Overview

I am a medical geneticist, and my research bridges clinical genetics and basic science. Our work is focused in three major areas:

Application of advanced genomic technology to identifying the causes of mental retardation;

Using genetic epidemiology - statistical analysis of large collections of clinical and genetic data and various other methods - to understand the disease processes in people with neurofibromatosis 1, a common genetic condition that leads to the development of benign and malignant tumours, cardiovascular disease and osteoporosis; and

Development and dissemination of authoritative information on human teratogenic risks (risks to embryonic or fetal development) resulting from maternal treatment with various medications during pregnancy.

Publications

Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery
Human Genetics
Luca, S. and Clausen, M. and Shaw, A. and Lee, W. and Krishnapillai, S. and Adi-Wauran, E. and Faghfoury, H. and Costain, G. and Jobling, R. and Aronson, M. and Liston, E. and Silver, J. and Shuman, C. and Chad, L. and Hayeems, R.Z. and Bombard, Y. and Bernier, F. and Brudno, M. and Carroll, J.C. and Cohn, R. and Dhalla, I. and Friedman, J. and Hewson, S. and Jamieson, T. and Kodida, R. and Laberge, A.-M. and Lerner-Ellis, J. and Mamdani, M. and Marshall, C.R. and Osmond, M. and Pham, Q. and Reble, E. and Rudzicz, F. and Seto, E. and Shastri-Estrada, S. and Smith, M. and Thorpe, K. and Ungar, W.J.
DOI: 10.1007/s00439-022-02512-2
2023

Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study
Journal of Telemedicine and Telecare
DOI: 10.1177/1357633X20982737
2023

Workforce Implications of Increased Referrals to Hereditary Cancer Services in Canada: A Scenario-Based Analysis
Current Oncology
DOI: 10.3390/curroncol30080525
2023

Genetics and genomics of cerebral palsy
Neurodevelopmental Pediatrics: Genetic and Environmental Influences
DOI: 10.1007/978-3-031-20792-1_35
2023

COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis
Genetics in Medicine
Banerjee, J. and Friedman, J.M. and Klesse, L.J. and Yohay, K.H. and Jordan, J.T. and Plotkin, S.R. and Allaway, R.J. and Blakeley, J.O.
DOI: 10.1016/j.gim.2022.10.007
2023

Bob Brent: Medical expert, expert medical witness, and expert on medical expert witnessing
Birth Defects Research
Friedman, J.M.
DOI: 10.1002/bdr2.2150
2023

Novel CIC variants identified in individuals with neurodevelopmental phenotypes
Human Mutation
Sharma, S. and Hourigan, B. and Patel, Z. and Rosenfeld, J.A. and Chan, K.M. and Wangler, M.F. and Yi, J.S. and Lehman, A. and Horvath, G. and Cloos, P.A. and Tan, Q. and Adam, S. and Du Souich, C. and Elliott, A. and Mwenifumbo, J. and Nelson, T. and Van Karnebeek, C. and Friedman, J.
DOI: 10.1002/humu.24346
2022

COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis
medRxiv
DOI: 10.1101/2022.03.31.22273208
2022

A personalized genomic results e-booklet, co-designed and pilot-tested by families
PEC Innovation
DOI: 10.1016/j.pecinn.2022.100039
2022

REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
Genome Medicine
Dolzhenko, E. and Weisburd, B. and Iba{\~n}ez, K. and Rajan-Babu, I.-S. and Anyansi, C. and Bennett, M.F. and Billingsley, K. and Carroll, A. and Clamons, S. and Danzi, M.C. and Deshpande, V. and Ding, J. and Fazal, S. and Halman, A. and Jadhav, B. and Qiu, Y. and Richmond, P.A. and Saunders, C.T. and Scheffler, K. and van Vugt, J.J.F.A. and Zwamborn, R.R.A.J. and Chong, S.S. and Friedman, J.M. and Tucci, A. and Rehm, H.L. and Eberle, M.A.
DOI: 10.1186/s13073-022-01085-z
2022

The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit
Genetics in Medicine
Rodriguez Llorian, E. and Dragojlovic, N. and Campbell, T.M. and Friedman, J.M. and Osiovich, H. and Candido, T. and Christilaw, J. and Souich, C.D. and Elliott, A.M. and Evans, D.M. and Farrer, M.J. and Guella, I. and Lehman, A. and Lynd, L.D. and Tooman, L.
DOI: 10.1016/j.gim.2022.04.014
2022

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
Human Genetics and Genomics Advances
Elliott, A.M. and Adam, S. and du Souich, C. and Lehman, A. and Nelson, T.N. and van Karnebeek, C. and Alderman, E. and Armstrong, L. and Aubertin, G. and Blood, K. and Boelman, C. and Boerkoel, C. and Bretherick, K. and Brown, L. and Chijiwa, C. and Clarke, L. and Couse, M. and Creighton, S. and Watts-Dickens, A. and Gibson, W.T. and Gill, H. and Tarailo-Graovac, M. and Hamilton, S. and Heran, H. and Horvath, G. and Huang, L. and Hulait, G.K. and Koehn, D. and Lee, H.K. and Lewis, S. and Lopez, E. and Louie, K. and Niederhoffer, K. and Matthews, A. and Meagher, K. and Peng, J.J. and Patel, M.S. and Race, S. and Richmond, P. and Rupps, R. and Salvarinova, R. and Seath, K. and Selby, K. and Steinraths, M. and Stockler, S. and Tang, K. and Tyson, C. and van Allen, M. and Wasserman, W. and Mwenifumbo, J. and Friedman, J.M.
DOI: 10.1016/j.xhgg.2022.100108
2022

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
Genetics in Medicine
Plotkin, S.R. and Messiaen, L. and Legius, E. and Pancza, P. and Avery, R.A. and Blakeley, J.O. and Babovic-Vuksanovic, D. and Ferner, R. and Fisher, M.J. and Friedman, J.M. and Giovannini, M. and Gutmann, D.H. and Hanemann, C.O. and Kalamarides, M. and Kehrer-Sawatzki, H. and Korf, B.R. and Mautner, V.-F. and MacCollin, M. and Papi, L. and Rauen, K.A. and Riccardi, V. and Schorry, E. and Smith, M.J. and Stemmer-Rachamimov, A. and Stevenson, D.A. and Ullrich, N.J. and Viskochil, D. and Wimmer, K. and Yohay, K. and Anten, M. and Aylsworth, A. and Baralle, D. and Barbarot, S. and Barker, F. and Ben-Shachar, S. and Bergner, A. and Bessis, D. and Blanco, I. and Cassiman, C. and Ciavarelli, P. and Clementi, M. and Fr{\'e}bourg, T. and Gomes, A. and Halliday, D. and Helen Hanson Arvid Heiberg, C.H. and Joly, P. and Jordan, J.T. and Karajannis, M. and Kroshinsky, D. and Larralde, M. and L{\'a}zaro, C. and Le, L. and Link, M. and Listernick, R. and Mallucci, C. and Merker, V.L. and Moertel, C. and Mueller, A. and Ngeow, J. and Oostenbrink, R. and Packer, R. and Parry, A. and Peltonen, J. and Pichard, D. and Poppe, B. and Rezende, N. and Rodrigues, L.O. and Rosser, T. and Ruggieri, M. and Serra, E. and Steinke-Lange, V. and Stivaros, S.M. and Taylor, A. and Toelen, J. and Tonsgard, J. and Trevisson, E. and Upadhyaya, M. and Varan, A. and Wilson, M. and Wu, H. and Zadeh, G. and Huson, S.M. and Wolkenstein, P. and Evans, D.G.
DOI: 10.1016/j.gim.2022.05.007
2022

Correction to: The stepwise process of integrating a genetic counsellor into primary care (European Journal of Human Genetics, (2022), 30, 7, (772-781), 10.1038/s41431-022-01040-x)
European Journal of Human Genetics
Slomp, C. and Morris, E. and Knoppers, B.M. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.H. and Price, M. and Elliott, A.M. and Austin, J.
DOI: 10.1038/s41431-022-01063-4
2022

The long-term impact of receiving incidental findings on parents undergoing genome-wide sequencing
Journal of Genetic Counseling
Cheung, F. and Birch, P. and Friedman, J.M. and Elliott, A.M. and Adam, S.
DOI: 10.1002/jgc4.1558
2022

Linked-read sequencing for detecting short tandem repeat expansions
Scientific Reports
Chiu, R. and Rajan-Babu, I.-S. and Birol, I. and Friedman, J.M.
DOI: 10.1038/s41598-022-13024-4
2022

The stepwise process of integrating a genetic counsellor into primary care
European Journal of Human Genetics
Slomp, C. and Morris, E. and Knoppers, B.M. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.H. and Price, M. and Elliott, A.M. and Austin, J.
DOI: 10.1038/s41431-022-01040-x
2022

Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward
Frontiers in Genetics
Rahimzadeh, V. and Friedman, J.M. and de Wert, G. and Knoppers, B.M.
DOI: 10.3389/fgene.2022.865400
2022

Where is genetic medicine headed? Exploring the perspectives of Canadian genetic professionals on future trends using the Delphi method
European Journal of Human Genetics
Borle, K. and Kopac, N. and Dragojlovic, N. and Rodriguez Llorian, E. and Friedman, J.M. and Elliott, A.M. and Lynd, L.D.
DOI: 10.1038/s41431-021-01017-2
2022

After genomic testing results: Parents’ long-term views
Journal of Genetic Counseling
Liang, N.S.Y. and Adam, S. and Elliott, A.M. and Siemens, A. and du Souich, C. and Friedman, J.M. and Birch, P.
DOI: 10.1002/jgc4.1454
2022

Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies
Molecular Genetics and Metabolism
Friedman, J.M. and van Essen, P. and van Karnebeek, C.D.M.
DOI: 10.1016/j.ymgme.2021.11.001
2022

White matter is increased in the brains of adults with neurofibromatosis 1
Orphanet Journal of Rare Diseases
Wang, S. and Friedman, J.M. and Suppa, P. and Buchert, R. and Mautner, V.-F.
DOI: 10.1186/s13023-022-02273-1
2022

Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences
Genome Biology
Chiu, R. and Rajan-Babu, I.-S. and Friedman, J.M. and Birol, I.
DOI: 10.1186/s13059-021-02447-3
2021

Toward the diagnosis of rare childhood genetic diseases: what do parents value most?
European Journal of Human Genetics
Pollard, S. and Weymann, D. and Dunne, J. and Mayanloo, F. and Buckell, J. and Buchanan, J. and Wordsworth, S. and Friedman, J.M. and Stockler-Ipsiroglu, S. and Dragojlovic, N. and Elliott, A.E. and Harrison, M. and Lynd, L.D. and Regier, D.A.
DOI: 10.1038/s41431-021-00882-1
2021

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy
European Journal of Human Genetics
McTiernan, N. and Gill, H. and Prada, C.E. and Pachajoa, H. and Lores, J. and Arnesen, T. and Adam, S. and Du Souich, C. and Elliott, A. and Lehman, A. and Mwenifumbo, J. and Nelson, T. and Van Karnebeek, C. and Friedman, J.
DOI: 10.1038/s41431-020-00728-2
2021

Integration of genetic counsellors in genomic testing triage: Outcomes of a Genomic Consultation Service in British Columbia, Canada
European Journal of Medical Genetics
Cook, C.B. and Dragojlovic, N. and Siemens, A. and Adam, S. and du Souich, C. and van Karnebeek, C. and Lehman, A. and Nelson, T.N. and Friedman, J. and Lynd, L.D. and Elliott, A.M.
DOI: 10.1016/j.ejmg.2020.104024
2021

Rapid genome-wide sequencing in a neonatal intensive care unit: A retrospective qualitative exploration of parental experiences
Journal of Genetic Counseling
Aldridge, C.E. and Osiovich, H. and Siden, H. and Elliott, A.M. and Candido, T. and Christilaw, J. and Dragojlovic, N. and du Souich, C. and Evans, D.M. and Farrer, M.J. and Friedman, J.M. and Guella, I. and Lehman, A. and Lynd, L. and Tooman, L. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.
DOI: 10.1002/jgc4.1353
2021

Utilization and uptake of clinical genetics services in high-income countries: A scoping review
Health Policy
Dragojlovic, N. and Kopac, N. and Borle, K. and Tandun, R. and Salmasi, S. and Ellis, U. and Birch, P. and Adam, S. and Friedman, J.M. and Elliott, A.M. and Lynd, L.D.
DOI: 10.1016/j.healthpol.2021.04.010
2021

Alterations in brain morphology by MRI in adults with neurofibromatosis 1
Orphanet Journal of Rare Diseases
DOI: 10.1186/s13023-021-02097-5
2021

White matter is increased in the brains of adults with neurofibromatosis 1
medRxiv
DOI: 10.1101/2021.06.13.21258853
2021

REViewer: Haplotype-resolved visualization of read alignments in and around tandem repeats
bioRxiv
DOI: 10.1101/2021.10.20.465046
2021

Alterations in Brain Morphology by MRI in Adults with Neurofibromatosis 1
Research Square
DOI: 10.21203/rs.3.rs-711404/v1
2021

White Matter is Increased in the Brains of Adults With Neurofibromatosis 1
Research Square
DOI: 10.21203/rs.3.rs-898452/v1
2021

White Matter is Increased in the Brains of Adults With Neurofibromatosis 1
ResearchSquare
Wang, S. and Friedman, J.M. and Suppa, P. and Buchert, R. and Mautner, V.-F.
DOI: 10.21203/rs.3.rs-898452
2021

Alterations in Brain Morphology by MRI in Adults with Neurofibromatosis 1
ResearchSquare
Wang, S. and Mautner, V.-F. and Buchert, R. and Flibotte, S. and Suppa, P. and Friedman, J.M. and Heran, M.K.S.
DOI: 10.21203/rs.3.rs-711404
2021

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Genetics in Medicine
Legius, E. and Messiaen, L. and Wolkenstein, P. and Pancza, P. and Avery, R.A. and Berman, Y. and Blakeley, J. and Babovic-Vuksanovic, D. and Cunha, K.S. and Ferner, R. and Fisher, M.J. and Friedman, J.M. and Gutmann, D.H. and Kehrer-Sawatzki, H. and Korf, B.R. and Mautner, V.-F. and Peltonen, S. and Rauen, K.A. and Riccardi, V. and Schorry, E. and Stemmer-Rachamimov, A. and Stevenson, D.A. and Tadini, G. and Ullrich, N.J. and Viskochil, D. and Wimmer, K. and Yohay, K. and Gomes, A. and Jordan, J.T. and Mautner, V. and Merker, V.L. and Smith, M.J. and Stevenson, D. and Anten, M. and Aylsworth, A. and Baralle, D. and Barbarot, S. and Barker, F. and Ben-Shachar, S. and Bergner, A. and Bessis, D. and Blanco, I. and Cassiman, C. and Ciavarelli, P. and Clementi, M. and Frébourg, T. and Giovannini, M. and Halliday, D. and Hammond, C. and Hanemann, C.O. and Hanson, H. and Heiberg, A. and Joly, P. and Kalamarides, M. and Karajannis, M. and Kroshinsky, D. and Larralde, M. and Lázaro, C. and Le, L. and Link, M. and Listernick, R. and MacCollin, M. and Mallucci, C. and Moertel, C. and Mueller, A. and Ngeow, J. and Oostenbrink, R. and Packer, R. and Papi, L. and Parry, A. and Peltonen, J. and Pichard, D. and Poppe, B. and Rezende, N. and Rodrigues, L.O. and Rosser, T. and Ruggieri, M. and Serra, E. and Steinke-Lange, V. and Stivaros, S.M. and Taylor, A. and Toelen, J. and Tonsgard, J. and Trevisson, E. and Upadhyaya, M. and Varan, A. and Wilson, M. and Wu, H. and Zadeh, G. and Huson, S.M. and Evans, D.G. and Plotkin, S.R.
DOI: 10.1038/s41436-021-01170-5
2021

Correction to: Toward the diagnosis of rare childhood genetic diseases: what do parents value most? (European Journal of Human Genetics, (2021), 29, 10, (1491-1501), 10.1038/s41431-021-00882-1)
European Journal of Human Genetics
Pollard, S. and Weymann, D. and Dunne, J. and Mayanloo, F. and Buckell, J. and Buchanan, J. and Wordsworth, S. and Friedman, J.M. and Stockler-Ipsiroglu, S. and Dragojlovic, N. and Elliott, A.M. and Harrison, M. and Lynd, L.D. and Regier, D.A.
DOI: 10.1038/s41431-021-00925-7
2021

Far and wide: Exploring provider utilization of remote service provision for genome-wide sequencing in Canada
Molecular Genetics and Genomic Medicine
Enns, E.A. and Wainstein, T. and Dragojlovic, N. and Kopac, N. and Lynd, L.D. and Elliott, A.M. and Austin, J. and Knoppers, B. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.
DOI: 10.1002/mgg3.1784
2021

Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications
Cold Spring Harbor Molecular Case Studies
Cook, C.B. and Armstrong, L. and Boerkoel, C.F. and Clarke, L.A. and du Souich, C. and Demos, M.K. and Gibson, W.T. and Gill, H. and Lopez, E. and Patel, M.S. and Selby, K. and Abu-Sharar, Z. and Elliott, A.M. and Friedman, J.M.
DOI: 10.1101/mcs.a006125
2021

Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions
Genome Medicine
Rajan-Babu, I.-S. and Peng, J.J. and Chiu, R. and Adam, S. and Souich, C.D. and Elliott, A. and Lehman, A. and Mwenifumbo, J. and Nelson, T. and van Karnebeek, C. and Friedman, J. and Birch, P. and Couse, M. and Guimond, C. and Mwenifumbo, J. and van Karnebeek, C. and Friedman, J. and Li, C. and Mohajeri, A. and Dolzhenko, E. and Eberle, M.A. and Birol, I. and Friedman, J.M.
DOI: 10.1186/s13073-021-00932-9
2021

Out-of-pocket and private pay in clinical genetic testing: A scoping review
Clinical Genetics
Grant, P. and Langlois, S. and Lynd, L.D. and Austin, J.C. and Elliott, A.M. and Dragojlovic, N. and Knoppers, B. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, Z.
DOI: 10.1111/cge.14006
2021

Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects
Neurogenetics
van Karnebeek, C.D. and Blydt-Hansen, I. and Matthews, A.M. and Avramovic, V. and Price, M. and Drogemoller, B. and Shyr, C. and Lee, J. and Mwenifumbo, J. and Ghani, A. and Stockler, S. and Friedman, J.M. and Lehman, A. and Ross, C.J. and Wasserman, W.W. and Tarailo-Graovac, M. and Horvath, G.A.
DOI: 10.1007/s10048-021-00652-7
2021

Genetic counseling research and COVID-19: A lesson in resiliency
Journal of Genetic Counseling
Borle, K. and Dey, A. and Carrion, P. and Austin, J. and Elliott, A.M. and Knoppers, B. and Lynd, L.D. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M. and Myers, M.
DOI: 10.1002/jgc4.1502
2021

Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions (Genome Medicine, (2021), 13, 1, (126), 10.1186/s13073-021-00932-9)
Genome Medicine
Rajan-Babu, I.-S. and Peng, J.J. and Chiu, R. and Birch, P. and Couse, M. and Guimond, C. and Lehman, A. and Mwenifumbo, J. and van Karnebeek, C. and Friedman, J. and Adam, S. and Du Souich, C. and Elliott, A. and Lehman, A. and Mwenifumbo, J. and Nelson, T. and van Karnebeek, C. and Rajan-Babu and Friedman, J. and Li, C. and Mohajeri, A. and Dolzhenko, E. and Eberle, M.A. and Birol, I. and Friedman, J.M.
DOI: 10.1186/s13073-021-00961-4
2021

Prescription opioid use during pregnancy and risk for preterm birth or term low birthweight
Journal of Opioid Management
Interrante, J.D. and Scroggs, S.L.P. and Hogue, C.J. and Friedman, J.M. and Reefhuis, J. and Jann, M.W. and Broussard, C.S.
DOI: 10.5055/JOM.2021.0632
2021

Genetic counselors and legal recognition: A made-for-Canada approach
Journal of Genetic Counseling
Lambert, D.M. and Patrinos, D. and Knoppers, B.M. and Zawati, M.H. and Elliott, A.M. and Austin, J. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Pullman, D. and Virani, A. and Wasserman, W.
DOI: 10.1002/jgc4.1468
2021

A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
Human molecular genetics
Al-Shekaili HH and Petkau TL and Pena I and Lengyell TC and Verhoeven-Duif NM and Ciapaite J and Bosma M and van Faassen M and Kema IP and Horvath G and Ross C and Simpson EM and Leavitt BR
DOI: 10.1093/hmg/ddaa202
PubMed: 32969477
11/2020

Correction: The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review.
Genetics in medicine : official journal of the American College of Medical Genetics
Dragojlovic N and Borle K and Kopac N and Ellis U and Birch P and Adam S and Friedman JM and Nisselle A and GenCOUNSEL Study and Elliott AM and Lynd LD
DOI: 10.1038/s41436-020-0903-5
PubMed: 32651549
09/2020

MRI based volumetric measurements of vestibular schwannomas in patients with neurofibromatosis type 2: comparison of three different software tools.
Scientific reports
Kollmann P and Mautner VF and Koeppen J and Wenzel R and Friedman JM and Salamon J and Farschtschi S
DOI: 10.1038/s41598-020-68489-y
PubMed: 32665659
07/2020

Exome Sequencing and Clinical Diagnosis.
JAMA
Friedman JM and Jones KL and Carey JC
DOI: 10.1001/jama.2020.11126
PubMed: 32735311
07/2020

The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review.
Genetics in medicine : official journal of the American College of Medical Genetics
Dragojlovic N and Borle K and Kopac N and Ellis U and Birch P and Adam S and Friedman JM and Nisselle A and GenCOUNSEL Study and Elliott AM and Lynd LD
DOI: 10.1038/s41436-020-0825-2
PubMed: 32576987
06/2020

Genome-Wide Sequencing as a First-Tier Screening Test for Short Tandem Repeat Expansions
Rajan-Babu I and Peng J and Chiu R and Mohajeri A and Dolzhenko E and Eberle MA and Birol I and Friedman JM and IMAGINE Study and CAUSES Study
DOI: 10.1101/2020.06.06.137356
06/2020

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
European journal of human genetics : EJHG
Nambot S and Faivre L and Mirzaa G and Thevenon J and Bruel AL and Mosca-Boidron AL and Masurel-Paulet A and Goldenberg A and Le Meur N and Charollais A and Mignot C and Petit F and Thauvin-Robinet C
DOI: 10.1038/s41431-020-0571-6
PubMed: 32005960
01/2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain : a journal of neurology
Mak CCY and Doherty D and Lin AE and Vegas N and Cho MT and Viot G and Dimartino C and Weisfeld-Adams JD and Lessel D and Joss S and Li C and Gonzaga-Jauregui C and Zarate YA and Ehmke N and Gordon CT
DOI: 10.1093/brain/awz379
PubMed: 31834374
01/2020

Exome Sequencing as Part of a Multidisciplinary Approach to Diagnosis-Reply
JAMA - Journal of the American Medical Association
Friedman, J.M. and Jones, K.L. and Carey, J.C.
DOI: 10.1001/jama.2020.21521
2020

Atypical antipsychotic use during pregnancy and birth defect risk: National Birth Defects Prevention Study, 1997–2011
Schizophrenia Research
Anderson, K.N. and Ailes, E.C. and Lind, J.N. and Broussard, C.S. and Bitsko, R.H. and Friedman, J.M. and Bobo, W.V. and Reefhuis, J. and Tinker, S.C.
DOI: 10.1016/j.schres.2019.11.019
2020

The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders
Genetics in Medicine
Dragojlovic, N. and van Karnebeek, C.D.M. and Ghani, A. and Genereaux, D. and Kim, E. and Birch, P. and Adam, S. and Dragojlovic, N. and du Souich, C. and Elliott, A.M. and Lehman, A. and Lynd, L. and Mwenifumbo, J. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Elliott, A.M. and Friedman, J.M. and Lynd, L.D.
DOI: 10.1038/s41436-019-0635-6
2020

Renpenning syndrome in a female
American Journal of Medical Genetics, Part A
Cho, R.Y. and Peñaherrera, M.S. and Du Souich, C. and Huang, L. and Mwenifumbo, J. and Nelson, T.N. and Elliott, A.M. and Adam, S. and Eydoux, P. and Yang, G.X. and Chijiwa, C. and Van Allen, M.I. and Friedman, J.M. and Robinson, W.P. and Lehman, A.
DOI: 10.1002/ajmg.a.61451
2020

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation
Molecular Genetics and Metabolism
Hanneke A. Haijes and Monique G.M. de Sain-van der Velden and Hubertus C.M.T. Prinsen and Anke P. Willems and Maria van der Ham and Johan Gerrits and Madeline H. Couse and Jan M. Friedman and Clara D.M. van Karnebeek and Kathryn A. Selby and Peter M. van Hasselt and Nanda M. Verhoeven-Duif and Judith J.M. Jans
DOI: 10.1016/j.ymgme.2019.07.001
07/2019

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges
European Journal of Pediatrics
Alison M. Elliott and Christèle du Souich and Anna Lehman and Ilaria Guella and Daniel M. Evans and Tara Candido and Leah Tooman and Linlea Armstrong and Lorne Clarke and William Gibson and Harinder Gill and Pascal M. Lavoie and Suzanne Lewis and Margaret L. McKinnon and Sarah M. Nikkel and Millan Patel and Alfonso Solimano and Anne Synnes and Joseph Ting and Margot van Allen and Jan Christilaw and Matthew J. Farrer and Jan M. Friedman and Horacio Osiovich
DOI: 10.1007/s00431-019-03399-4
06/2019

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy
Translational Research
Andreas Brodehl and Saman Rezazadeh and Tatjana Williams and Nicole M. Munsie and Daniel Liedtke and Tracey Oh and Raechel Ferrier and Yaoqing Shen and Steven J.M. Jones and Amy L. Stiegler and Titus J. Boggon and Henry J. Duff and Jan M. Friedman and William T. Gibson and Sarah J. Childs and Brenda Gerull
DOI: 10.1016/j.trsl.2019.02.004
06/2019

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
Brain
DOI: 10.1093/brain/awy346
03/2019

Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?
Genetics in Medicine
DOI: 10.1038/s41436-018-0055-z
02/2019

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8
Journal of Human Genetics
Heba Yasin and William T. Gibson and Sylvie Langlois and Robert M. Stowe and Erica S. Tsang and Leora Lee and Jenny Poon and Grant Tran and Christine Tyson and Chi Kin Wong and Marco A. Marra and Jan M. Friedman and Farah R. Zahir
DOI: 10.1038/s10038-019-0561-0
01/2019

Alterations in brain morphology by MRI in adults with neurofibromatosis 1
medRxiv
Wang, S. and Mautner, V.-F. and Buchert, R. and Flibotte, S. and Suppa, P. and Friedman, J.M. and Heran, M.K.S.
DOI: 10.1101/2019.12.19.19015255
2019

Assessing Shared Decision-Making Clinical Behaviors Among Genetic Counsellors
Journal of Genetic Counseling
Birch, P.H. and Adam, S. and Coe, R.R. and Port, A.V. and Vortel, M. and Friedman, J.M. and Légaré, F.
DOI: 10.1007/s10897-018-0285-x
2019

Strabismus in Children With Intellectual Disability: Part of a Broader Motor Control Phenotype?
Pediatric Neurology
Ye, X.C. and van der Lee, R. and Wasserman, W.W. and CAUSES Study and Friedman, J.M. and Lehman, A.
DOI: 10.1016/j.pediatrneurol.2019.04.002
2019

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy
Molecular Genetics and Genomic Medicine
Tarailo-Graovac, M. and Zahir, F.R. and Zivkovic, I. and Moksa, M. and Selby, K. and Sinha, S. and Nislow, C. and Stockler-Ipsiroglu, S.G. and Sheffer, R. and Saada-Reisch, A. and Friedman, J.M. and van Karnebeek, C.D.M. and Horvath, G.A.
DOI: 10.1002/mgg3.961
2019

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions
Journal of Genetic Counseling
Adam, S. and Birch, P.H. and Coe, R.R. and Bansback, N. and Jones, A.L. and Connolly, M.B. and Demos, M.K. and Toyota, E.B. and Farrer, M.J. and Friedman, J.M.
DOI: 10.1007/s10897-018-0281-1
2019

The importance of genetic counselling in genome-wide sequencing
Nature Reviews Genetics
Alison M. Elliott and Jan M. Friedman
DOI: 10.1038/s41576-018-0057-3
10/2018

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study
Genetics in Medicine
DOI: 10.1038/gim.2017.226
09/2018

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia
Molecular Genetics & Genomic Medicine
DOI: 10.1002/mgg3.410
07/2018

Neurofibromatosis 1
PubMed: 20301288
05/2018

Key Implications of Data Sharing in Pediatric Genomics
JAMA Pediatrics
DOI: 10.1001/jamapediatrics.2017.5500
05/2018

Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1
Orphanet Journal of Rare Diseases
Laura Sellmer and Said Farschtschi and Marco Marangoni and Manraj K. S. Heran and Patricia Birch and Ralph Wenzel and Victor-Felix Mautner and Jan M. Friedman
DOI: 10.1186/s13023-018-0811-9
04/2018

Evaluating the use of parental reports to estimate health care resource utilization in children with suspected genetic disorders.
Journal of evaluation in clinical practice
DOI: 10.1111/jep.12876
PubMed: 29603523
04/2018

Mutations in Kv7.5 Channels Associated with Intellectual Disability or Epileptic Encephalopathy
Biophysical Journal
Anna Lehman and Samrat Thouta and Grazia M.S. Mancini and Marjon van Slegtenhorst and Sakkubai Naidu and Sonal Desai and Kirsty McWalter and Richard Person and Jill Mwenifumbo and Ramona Salvarinova and Ilaria Guella and Marna B. McKenzie and Matthew J. Farrer and Anita Datta and Mary B. Connolly and Michelle Demos and Somayeh Mojard Kalkhoran and Damon Poburko and Jan M. Friedman and Thomas Claydon
DOI: 10.1016/j.bpj.2017.11.702
02/2018

Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1
PLOS ONE
Harleen Chohan and Mitra Esfandiarei and Darian Arman and Catherine D. Van Raamsdonk and Cornelis van Breemen and Jan M. Friedman and Kimberly A. Jett
DOI: 10.1371/journal.pone.0208835
2018

Data sharing as a national quality improvement program: Reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)
Genetics in Medicine
Lebo, M.S. and Zakoor, K.-R. and Chun, K. and Speevak, M.D. and Waye, J.S. and McCready, E. and Parboosingh, J.S. and Lamont, R.E. and Feilotter, H. and Bosdet, I. and Tucker, T. and Young, S. and Karsan, A. and Charames, G.S. and Agatep, R. and Spriggs, E.L. and Chisholm, C. and Vasli, N. and Daoud, H. and Jarinova, O. and Tomaszewski, R. and Hume, S. and Taylor, S. and Akbari, M.R. and Lerner-Ellis, J. and Ainsworth, P. and Aronson, M. and Basran, R. and Blavier, A. and Blumenthal, A. and Boycott, K. and Brudno, M. and Buckley, K. and Campbell, J. and Campeau, P.M. and Care, M. and Carson, N. and Carter, R. and Chitayat, D. and Chong, G. and Chouinard, E. and Craddock, K.J. and Docking, R. and Eisen, A. and Faghfoury, H. and Farrell, S. and Fernandez, B. and Fiume, M. and Forster-Gibson, C. and Friedman, J. and Foulkes, W. and Goodhand, P. and Gu, J. and Hegele, R. and Holter, S. and Horsburgh, S. and Hughes, L. and Jewett, F. and Junker, A. and Khalouei, S. and Knoll, J. and Kolomeitz, E. and Knoppers, B. and Maire, G. and Marshall, C. and Mitchell, G. and Moorhouse, M.J. and Morel, C. and Nelson, T. and Noor, A. and O'Connor, B. and O'Rielly, D. and Ouellette, F. and Racher, H. and Ray, P. and Rehm, H. and Riddell, C. and Riviere, J.-B. and Rosenblatt, D.S. and Rouleau, G. and Ruchon, A. and Sabatini, P. and Sadikovic, B. and Semotiuk, K. and Scherer, S.W. and Shuman, C. and Silver, J. and Siminovitch, K. and Solomon-Izsak, L. and Soucy, J.-F. and Stavropoulos, J. and Stein, L. and Tannenbaum, R. and Terespolsky, D. and Wintle, R.F. and Wong, B. and Wong, N. and Wang, M. and Watkins, N. and White, S. and Woods, M.O. and Wyatt, P.
DOI: 10.1038/gim.2017.80
2018

Clinical teratology
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications
Alwan, S. and Friedman, J.M.
DOI: 10.1016/B978-0-12-812536-6.00002-X
2018

Assessment of case reports and clinical series
Handbook of Developmental Neurotoxicology
Friedman, J.M.
DOI: 10.1016/B978-0-12-809405-1.00034-1
2018

Introduction
Handbook of Developmental Neurotoxicology
Friedman, J.M.
DOI: 10.1016/B978-0-12-809405-1.00054-7
2018

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
The American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2017.11.006
12/2017

Controversy and debate on clinical genomics sequencing—paper 4: clinical genome-wide sequencing: response to Wilson, Miller, and Rousseau
Journal of Clinical Epidemiology
DOI: 10.1016/j.jclinepi.2017.09.019
12/2017

Editorial In Bed with The Devil: Recognizing Human Teratogenic Exposures
Birth Defects Research
Jan M. Friedman
DOI: 10.1002/bdr2.1134
11/2017

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
Human molecular genetics
DOI: 10.1093/hmg/ddx316
PubMed: 28973161
11/2017

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy
American Journal of Medical Genetics Part A
My Linh Thibodeau and Colin H. Peters and Katelin N. Townsend and Yaoqing Shen and Glenda Hendson and Shelin Adam and Kathryn Selby and Patrick M. Macleod and Cynthia Gershome and Peter Ruben and Steven J. M. Jones and Jan M. Friedman and William T. Gibson and Gabriella A. Horvath and the FORGE Canada Consortium
DOI: 10.1002/ajmg.a.38400
09/2017

Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!
Journal of clinical epidemiology
DOI: 10.1016/j.jclinepi.2017.08.020
PubMed: 28916491
09/2017

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
The American Journal of Human Genetics
Anna Lehman and Samrat Thouta and Grazia M.S. Mancini and Sakkubai Naidu and Marjon van Slegtenhorst and Kirsty McWalter and Richard Person and Jill Mwenifumbo and Ramona Salvarinova and Ilaria Guella and Marna B. McKenzie and Anita Datta and Mary B. Connolly and Somayeh Mojard Kalkhoran and Damon Poburko and Jan M. Friedman and Matthew J. Farrer and Michelle Demos and Sonal Desai and Thomas Claydon and Shelin Adam and Christèle du Souich and Alison M. Elliott and Anna Lehman and Jill Mwenifumbo and Tanya N. Nelson and Clara van Karnebeek and Jan M. Friedman and Shelin Adam and Cyrus Boelman and Corneliu Bolbocean and Sarah E. Buerki and Tara Candido and Patrice Eydoux and Daniel M. Evans and William Gibson and Gabriella Horvath and Linda Huh and Tanya N. Nelson and Graham Sinclair and Tamsin Tarling and Eric B. Toyota and Katelin N. Townsend and Margot I. Van Allen and Clara van Karnebeek and Suzanne Vercauteren
DOI: 10.1016/j.ajhg.2017.05.016
07/2017

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
BMC Genomics
Farah R. Zahir and Jill C. Mwenifumbo and Hye-Jung E. Chun and Emilia L. Lim and Clara D. M. Van Karnebeek and Madeline Couse and Karen L. Mungall and Leora Lee and Nancy Makela and Linlea Armstrong and Cornelius F. Boerkoel and Sylvie L. Langlois and Barbara M. McGillivray and Steven J. M. Jones and Jan M. Friedman and Marco A. Marra
DOI: 10.1186/s12864-017-3671-0
05/2017

A case of splenomegaly in CBL syndrome.
European journal of medical genetics
DOI: 10.1016/j.ejmg.2017.04.009
PubMed: 28414188
04/2017

Non-optic glioma in adults and children with neurofibromatosis 1
Orphanet Journal of Rare Diseases
Laura Sellmer and Said Farschtschi and Marco Marangoni and Manraj K. S. Heran and Patricia Birch and Ralph Wenzel and Jan M. Friedman and Victor-Felix Mautner
DOI: 10.1186/s13023-017-0588-2
02/2017

Genomic newborn screening: public health policy considerations and recommendations.
BMC medical genomics
DOI: 10.1186/s12920-017-0247-4
PubMed: 28222731
02/2017

Creation of an international registry to support discovery in schwannomatosis
American Journal of Medical Genetics, Part A
Ostrow, K.L. and Bergner, A.L. and Blakeley, J. and Evans, D.G. and Ferner, R. and Friedman, J.M. and Harris, G.J. and Jordan, J.T. and Korf, B. and Langmead, S. and Leschziner, G. and Mautner, V. and Merker, V.L. and Papi, L. and Plotkin, S.R. and Slopis, J.M. and Smith, M.J. and Stemmer-Rachamimov, A. and Yohay, K. and Belzberg, A.J.
DOI: 10.1002/ajmg.a.38024
2017

Comparing the ability of OPTION12 and OPTION5 to assess shared decision-making in genetic counselling.
Patient Education and Counseling
Martina A. Vortel and Shelin Adam and Ashley V. Port-Thompson and Jan M. Friedman and Stuart W. Grande and Patricia H. Birch
DOI: 10.1016/j.pec.2016.03.024
10/2016

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes
American Journal of Medical Genetics Part A
Farah R. Zahir and Tracy Tucker and Sonia Mayo and Carolyn J. Brown and Emilia L. Lim and Jonathan Taylor and Marco A. Marra and Fadi F. Hamdan and Jacques L. Michaud and Jan M. Friedman
DOI: 10.1002/ajmg.a.37669
10/2016

Safety of Selective Serotonin Reuptake Inhibitors in Pregnancy: A Review of Current Evidence
CNS Drugs
Sura Alwan and Jan M. Friedman and Christina Chambers
DOI: 10.1007/s40263-016-0338-3
05/2016

Exome Sequencing and the Management of Neurometabolic Disorders.
The New England journal of medicine
DOI: 10.1056/NEJMoa1515792
PubMed: 27276562
05/2016

DECIDE: a Decision Support Tool to Facilitate Parents’ Choices Regarding Genome-Wide Sequencing
Journal of Genetic Counseling
Patricia Birch and S. Adam and N. Bansback and R. R. Coe and J. Hicklin and A. Lehman and K. C. Li and J. M. Friedman
DOI: 10.1007/s10897-016-9971-8
05/2016

Parents’ Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing
Journal of Nursing Scholarship
Karen C. Li and Patricia H. Birch and Bernard M. Garrett and Maura MacPhee and Shelin Adam and Jan M. Friedman
DOI: 10.1111/jnu.12207
04/2016

Low risk of solid tumors in persons with Down syndrome
Genetics in Medicine
Henrik Hasle and Jan M. Friedman and Jørgen H. Olsen and Sonja A. Rasmussen
DOI: 10.1038/gim.2016.23
03/2016

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
Human mutation
DOI: 10.1002/humu.22942
PubMed: 26666891
01/2016

Growth in neurofibromatosis 1 microdeletion patients
Clinical Genetics
Ning, X. and Farschtschi, S. and Jones, A. and Kehrer-Sawatzki, H. and Mautner, V.-F. and Friedman, J.M.
DOI: 10.1111/cge.12632
2016

Current controversies in prenatal diagnosis 2: Should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?
Prenatal Diagnosis
Chitty, L.S. and Friedman, J.M. and Langlois, S.
DOI: 10.1002/pd.4718
2016

Individual DNA samples and health information sold by 23andMe
Genetics in Medicine
Adam, S. and Friedman, J.M.
DOI: 10.1038/gim.2015.82
2016

Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients
Journal of Medical Genetics
Adam Hexter and Adrian Jones and Harry Joe and Laura Heap and Miriam J Smith and Andrew J Wallace and Dorothy Halliday and Allyson Parry and Amy Taylor and Lucy Raymond and Adam Shaw and Shazia Afridi and Rupert Obholzer and Patrick Axon and Andrew T King and Jan M Friedman and D Gareth R Evans and The English Specialist NF2 Research Group
DOI: 10.1136/jmedgenet-2015-103290
08/2015

Specific SSRIs and birth defects: bayesian analysis to interpret new data in the context of previous reports
BMJ
Jennita Reefhuis and Owen Devine and Jan M Friedman and Carol Louik and Margaret A Honein
DOI: 10.1136/bmj.h3190
07/2015

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists
Journal of Medical Genetics
Kym Boycott and Taila Hartley and Shelin Adam and Francois Bernier and Karen Chong and Bridget A Fernandez and Jan M Friedman and Michael T Geraghty and Stacey Hume and Bartha M Knoppers and Anne-Marie Laberge and Jacek Majewski and Roberto Mendoza-Londono and M Stephen Meyn and Jacques L Michaud and Tanya N Nelson and Julie Richer and Bekim Sadikovic and David L Skidmore and Tracy Stockley and Sherry Taylor and Clara van Karnebeek and Ma'n H Zawati and Julie Lauzon and Christine M Armour
DOI: 10.1136/jmedgenet-2015-103144
05/2015

Genetic Mosaics and the Germ Line Lineage
Genes
Mark Samuels and Jan Friedman
DOI: 10.3390/genes6020216
04/2015

Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1
American Journal of Medical Genetics Part A
Kimberly Jett and Rosa Nguyen and Darian Arman and Patricia Birch and Harleen Chohan and Said Farschtschi and Carsten Fuensterer and Lan Kluwe and Jan M. Friedman and Victor F. Mautner
DOI: 10.1002/ajmg.a.37068
04/2015

Antineoplastic drugs
Drugs During Pregnancy and Lactation
Jan M. Friedman and Corinna Weber-Schöndorfer
DOI: 10.1016/b978-0-12-408078-2.00014-7
2015

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype
Cancer Discovery
Sawyer, S.L. and Tian, L. and Kähkönen, M. and Schwartzentruber, J. and Kircher, M. and Majewski, J. and Dyment, D.A. and Innes, A.M. and Boycott, K.M. and Moreau, L.A. and Moilanen, J.S. and Greenberg, R.A. and Boycott, K. and Friedman, J. and Michaud, J. and Bernier, F. and Brudno, M. and Fernandez, B. and Knoppers, B. and Samuels, M. and Scherer, S.
DOI: 10.1158/2159-8290.CD-14-1156
2015

Exome sequencing for gene discovery in lethal fetal disorders - harnessing the value of extreme phenotypes
Prenatal Diagnosis
Filges, I. and Friedman, J.M.
DOI: 10.1002/pd.4464
2015

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues
Clinical Genetics
Chardon, J.W. and Smith, A.C. and Woulfe, J. and Pena, E. and Rakhra, K. and Dennie, C. and Beaulieu, C. and Huang, L. and Schwartzentruber, J. and Hawkins, C. and Harms, M.B. and Dojeiji, S. and Zhang, M. and Majewski, J. and Bulman, D.E. and Boycott, K.M. and Dyment, D.A. and Boycott, K. and Friedman, J. and Michaud, J. and Bernier, F. and Brudno, M. and Fernandez, B. and Knoppers, B. and Samuels, M. and Scherer, S.
DOI: 10.1111/cge.12561
2015

A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: A case series
CMAJ
Rousseau-Nepton, I. and Okubo, M. and Grabs, R. and Boycott, K. and Friedman, J. and Michaud, J. and Bernier, F. and Brudno, M. and Fernandez, B. and Knoppers, B. and Samuels, M. and Scherer, S. and Mitchell, J. and Polychronakos, C. and Rodd, C.
DOI: 10.1503/cmaj.140840
2015

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: Case report and review of the literature
BMC Medical Genetics
Frosk, P. and Chodirker, B. and Simard, L. and El-Matary, W. and Hanlon-Dearman, A. and Schwartzentruber, J. and Majewski, J. and Boycott, K. and Friedman, J. and Michaud, J. and Bernier, F. and Brudno, M. and Fernandez, B. and Knoppers, B. and Samuels, M. and Scherer, S. and Rockman-Greenberg, C.
DOI: 10.1186/s12881-015-0175-0
2015

Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing
American Journal of Medical Genetics, Part A
Liu, H. and Sawyer, S.L. and Gos, M. and Grynspan, D. and Issa, K. and Ramphal, R. and Rotaru, C. and Boycott, K. and Friedman, J. and Michaud, J. and Bernier, F. and Brudno, M. and Fernandez, B. and Knoppers, B. and Samuels, M. and Scherer, S. and Majewski, J. and Boycott, K.M. and Graham, G. and Bromwich, M.
DOI: 10.1002/ajmg.a.36969
2015

Antineoplastic drugs
Drugs During Pregnancy and Lactation: Treatment Options and Risk Assessment: Third Edition
Friedman, J.M. and Weber-Schöndorfer, C.
DOI: 10.1016/B978-0-12-408078-2.00014-7
2015

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
The American Journal of Human Genetics
Chandree L. Beaulieu and Jacek Majewski and Jeremy Schwartzentruber and Mark E. Samuels and Bridget A. Fernandez and Francois P. Bernier and Michael Brudno and Bartha Knoppers and Janet Marcadier and David Dyment and Shelin Adam and Dennis E. Bulman and Steve J.M. Jones and Denise Avard and Minh Thu Nguyen and Francois Rousseau and Christian Marshall and Richard F. Wintle and Yaoqing Shen and Stephen W. Scherer and Jan M. Friedman and Jacques L. Michaud and Kym M. Boycott
DOI: 10.1016/j.ajhg.2014.05.003
06/2014

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
Orphanet Journal of Rare Diseases
Michelle K Demos and Clara DM van Karnebeek and Colin JD Ross and Shelin Adam and Yaoqing Shen and Shing Hei Zhan and Casper Shyr and Gabriella Horvath and Mohnish Suri and Alan Fryer and Steven JM Jones and Jan M Friedman and the FORGE Canada Consortium
DOI: 10.1186/1750-1172-9-15
2014

Incidental findings from clinical genome-wide sequencing: A review
Journal of Genetic Counseling
Lohn, Z. and Adam, S. and Birch, P.H. and Friedman, J.M.
DOI: 10.1007/s10897-013-9604-4
2014

Novel SACS mutation deviates from the French Canadian ARSACS phenotype
Canadian Journal of Neurological Sciences
McKenzie, E.D. and Sharma, P.N. and Parboosingh, J.S. and Suchowersky, O. and Boycott, K. and Friedman, J. and Michaud, J. and Bernier, F. and Brudno, M. and Fernandez, B. and Knoppers, B. and Samuels, M. and Scherer, S.
DOI: 10.1017/S0317167100016334
2014

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes
European Journal of Human Genetics
Tucker, T. and Zahir, F.R. and Griffith, M. and Delaney, A. and Chai, D. and Tsang, E. and Lemyre, E. and Dobrzeniecka, S. and Marra, M. and Eydoux, P. and Langlois, S. and Hamdan, F.F. and Michaud, J.L. and Friedman, J.M.
DOI: 10.1038/ejhg.2013.248
2014

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype
Clinical Genetics
Filges, I. and Nosova, E. and Bruder, E. and Tercanli, S. and Townsend, K. and Gibson, W.T. and Röthlisberger, B. and Heinimann, K. and Hall, J.G. and Gregory-Evans, C.Y. and Wasserman, W.W. and Miny, P. and Friedman, J.M.
DOI: 10.1111/cge.12301
2014

Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia
Epilepsia
Farhan, S.M.K. and Murphy, L.M. and Robinson, J.F. and Wang, J. and Siu, V.M. and Rupar, C.A. and Prasad, A.N. and Boycott, K. and Friedman, J. and Michaud, J. and Bernier, F. and Brudno, M. and Fernandez, B. and Knoppers, B. and Samuels, M. and Scherer, S. and Hegele, R.A.
DOI: 10.1111/epi.12730
2014

OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium
Journal of Medical Genetics
Vincent, A. and Forster, N. and Maynes, J.T. and Paton, T.A. and Billingsley, G. and Roslin, N.M. and Ali, A. and Sutherland, J. and Wright, T. and Westall, C.A. and Paterson, A.D. and Marshall, C.R. and Héon, E. and Boycott, K. and Friedman, J. and Michaud, J. and Bernier, F. and Brudno, M. and Fernandez, B. and Knoppers, B. and Samuels, M. and Scherer, S.
DOI: 10.1136/jmedgenet-2014-102620
2014

Management of multiple sclerosis during pregnancy and the reproductive years
Obstetrics and Gynecology
Bove, R. and Alwan, S. and Friedman, J.M. and Hellwig, K. and Houtchens, M. and Koren, G. and Lu, E. and McElrath, T.F. and Smyth, P. and Tremlett, H. and Sadovnick, A.D. and Centre of Excellence in Reproduction and Child Health (MS-CERCH)
DOI: 10.1097/AOG.0000000000000541
2014

Exposure-based validation list for developmental toxicity screening assays
Birth Defects Research Part B - Developmental and Reproductive Toxicology
Daston, G.P. and Beyer, B.K. and Carney, E.W. and Chapin, R.E. and Friedman, J.M. and Piersma, A.H. and Rogers, J.M. and Scialli, A.R.
DOI: 10.1002/bdrb.21132
2014

Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect
Canadian Journal of Cardiology
Greenway, S.C. and McLeod, R. and Hume, S. and Roslin, N.M. and Alvarez, N. and Giuffre, M. and Zhan, S.H. and Shen, Y. and Preuss, C. and Andelfinger, G. and Jones, S.J.M. and Gerull, B. and Boycott, K. and Friedman, J. and Michaud, J. and Bernier, F. and Brudno, M. and Fernandez, B. and Knoppers, B. and Samuels, M. and Scherer, S.
DOI: 10.1016/j.cjca.2013.12.003
2014

Combined immunodeficiency associated with homozygous MALT1 mutations
Journal of Allergy and Clinical Immunology
McKinnon, M.L. and Rozmus, J. and Fung, S.-Y. and Hirschfeld, A.F. and Del Bel, K.L. and Thomas, L. and Marr, N. and Martin, S.D. and Marwaha, A.K. and Priatel, J.J. and Tan, R. and Senger, C. and Tsang, A. and Prendiville, J. and Junker, A.K. and Seear, M. and Schultz, K.R. and Sly, L.M. and Holt, R.A. and Patel, M.S. and Friedman, J.M. and Turvey, S.E.
DOI: 10.1016/j.jaci.2013.10.045
2014

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Nature Genetics
Mirzaa, G.M. and Parry, D.A. and Fry, A.E. and Giamanco, K.A. and Schwartzentruber, J. and Vanstone, M. and Logan, C.V. and Roberts, N. and Johnson, C.A. and Singh, S. and Kholmanskikh, S.S. and Adams, C. and Hodge, R.D. and Hevner, R.F. and Bonthron, D.T. and Braun, K.P.J. and Faivre, L. and Rivière, J.-B. and St-Onge, J. and Gripp, K.W. and Mancini, G.M.S. and Pang, K. and Sweeney, E. and Van Esch, H. and Verbeek, N. and Wieczorek, D. and Steinraths, M. and Majewski, J. and Boycott, K.M. and Pilz, D.T. and Ross, M.E. and Dobyns, W.B. and Sheridan, E.G. and Friedman, J. and Michaud, J. and Bernier, F. and Brudno, M. and Fernandez, B. and Knoppers, B. and Samuels, M. and Scherer, S.
DOI: 10.1038/ng.2948
2014

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with leigh syndrome
Human Mutation
Schwartzentruber, J. and Buhas, D. and Majewski, J. and Sasarman, F. and Papillon-Cavanagh, S. and Thiffaut, I. and Sheldon, K.M. and Massicotte, C. and Patry, L. and Simon, M. and Zare, A.S. and McKernan, K.J. and Boycott, K. and Friedman, J. and Michaud, J. and Bernier, F. and Brudno, M. and Fernandez, B. and Knoppers, B. and Samuels, M. and Scherer, S. and Boles, R.G. and Deal, C.L. and Desilets, V. and Shoubridge, E.A. and Samuels, M.E.
DOI: 10.1002/humu.22629
2014

Benign whole body tumor volume is a risk factor for malignant peripheral nerve sheath tumors in neurofibromatosis type 1
Journal of Neuro-Oncology
Nguyen, R. and Jett, K. and Harris, G.J. and Cai, W. and Friedman, J.M. and Mautner, V.-F.
DOI: 10.1007/s11060-013-1293-1
2014

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review
American Journal of Medical Genetics, Part A
Au, P.Y.B. and Racher, H.E. and Graham, J.M. and Kramer, N. and Lowry, R.B. and Parboosingh, J.S. and Innes, A.M. and Boycott, K. and Friedman, J. and Michaud, J. and Bernier, F. and Brudno, M. and Fernandez, B. and Knoppers, B. and Samuels, M. and Scherer, S.
DOI: 10.1002/ajmg.a.36340
2014

Autonomy and the patient's right 'not to know' in clinical whole-genomic sequencing
European Journal of Human Genetics
Townsend, A. and Rousseau, F. and Friedman, J. and Adam, S. and Lohn, Z. and Birch, P.
DOI: 10.1038/ejhg.2013.94
2014

Update from the 2013 international neurofibromatosis conference
American Journal of Medical Genetics, Part A
Plotkin, S.R. and Albers, A.C. and Babovic-Vuksanovic, D. and Blakeley, J.O. and Breakefield, X.O. and Dunn, C.M. and Evans, D.G. and Fisher, M.J. and Friedman, J.M. and Giovannini, M. and Gutmann, D.H. and Kalamarides, M. and Mcclatchey, A.I. and Messiaen, L. and Morrison, H. and Parkinson, D.B. and Stemmer-Rachamimov, A.O. and Van Raamsdonk, C.D. and Riccardi, V.M. and Rosser, T. and Schindeler, A. and Smith, M.J. and Stevenson, D.A. and Ullrich, N.J. and van der Vaart, T. and Weiss, B. and Widemann, B.C. and Zhu, Y. and Bakker, A.C. and Lloyd, A.C.
DOI: 10.1002/ajmg.a.36754
2014

Recurrent triploidy due to a failure to complete maternal meiosis II: Wholeexome sequencing reveals candidate variants
Molecular Human Reproduction
Filges, I. and Manokhina, I. and Peñaherrera, M.S. and McFadden, D.E. and Louie, K. and Nosova, E. and Friedman, J.M. and Robinson, W.P.
DOI: 10.1093/molehr/gau112
2014

Management of Multiple Sclerosis During Pregnancy and the Reproductive Years
Obstetrics & Gynecology
Riley Bove and Sura Alwan and Jan M. Friedman and Kerstin Hellwig and Maria Houtchens and Gideon Koren and Ellen Lu and Thomas F. McElrath and Penelope Smyth and Helen Tremlett and A. Dessa Sadovnick
DOI: 10.1097/aog.0000000000000541
2014

Clinical Teratology
Reference Module in Biomedical Sciences
DOI: 10.1016/b978-0-12-383834-6.00044-6
2014

Clinical Teratology
Reference Module in Biomedical Sciences
J.M. Friedman and J.W. Hanson
DOI: 10.1016/b978-0-12-801238-3.05509-4
2014

Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard
Genetics in Medicine
Anne Townsend and Shelin Adam and Patricia H. Birch and Jan M. Friedman
DOI: 10.1038/gim.2013.105
09/2013

Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns
Molecular Genetics & Genomic Medicine
Tracy Tucker and Sylvie Giroux and Valérie Clément and Sylvie Langlois and Jan M. Friedman and François Rousseau
DOI: 10.1002/mgg3.12
05/2013

Effect of vitamin D3 treatment on bone density in neurofibromatosis 1 patients: A retrospective clinical study
Joint Bone Spine
Claudia Schnabel and Kimberly Jett and Jan M. Friedman and Isolde Frieling and Hans-Peter Kruse and Victor Mautner
DOI: 10.1016/j.jbspin.2012.07.010
05/2013

The generalized bone phenotype in children with neurofibromatosis 1: A sibling matched case-control study
American Journal of Medical Genetics Part A
Linlea Armstrong and Kimberly Jett and Patricia Birch and David L. Kendler and Heather McKay and Erica Tsang and David A. Stevenson and David A. Hanley and Deetria Egeli and Melonie Burrows and J.M. Friedman
DOI: 10.1002/ajmg.a.36001
05/2013

Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists
Genetics in Medicine
Emily Morris and Angela Inglis and Jan Friedman and Jehannine Austin
DOI: 10.1038/gim.2013.31
04/2013

Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing
American Journal of Medical Genetics Part A
Zoe Lohn and Shelin Adam and Patricia Birch and Anne Townsend and Jan Friedman
DOI: 10.1002/ajmg.a.35794
02/2013

Hospitalizations among people with Down syndrome: A nationwide population-based study in Denmark
American Journal of Medical Genetics Part A
Jin Liang Zhu and Henrik Hasle and Adolfo Correa and Diana Schendel and J.M. Friedman and Jørn Olsen and Sonja A. Rasmussen
DOI: 10.1002/ajmg.a.35711
02/2013

Medications in the first trimester of pregnancy: Most common exposures and critical gaps in understanding fetal risk
Pharmacoepidemiology and Drug Safety
Thorpe, P.G. and Gilboa, S.M. and Hernandez-Diaz, S. and Lind, J. and Cragan, J.D. and Briggs, G. and Kweder, S. and Friedman, J.M. and Mitchell, A.A. and Honein, M.A.
DOI: 10.1002/pds.3495
2013

Clinical Teratology
Emery and Rimoin's Principles and Practice of Medical Genetics
Friedman, J.M. and Hanson, J.W.
DOI: 10.1016/B978-0-12-383834-6.00044-6
2013

Survival among people with Down syndrome: A nationwide population-based study in Denmark
Genetics in Medicine
Zhu, J.L. and Hasle, H. and Correa, A. and Schendel, D. and Friedman, J.M. and Olsen, J?. and Rasmussen, S.A.
DOI: 10.1038/gim.2012.93
2013

Approaches to treating NF1 tibial pseudarthrosis: Consensus from the children's tumor foundation NF1 bone abnormalities consortium
Journal of Pediatric Orthopaedics
Stevenson, D.A. and Little, D. and Armstrong, L. and Crawford, A.H. and Eastwood, D. and Friedman, J.M. and Greggi, T. and Gutierrez, G. and Hunter-Schaedle, K. and Kendler, D.L. and Kolanczyk, M. and Monsell, F. and Oetgen, M. and Richards, B.S. and Schindeler, A. and Schorry, E.K. and Wilkes, D. and Viskochil, D.H. and Yang, F.-C. and Elefteriou, F.
DOI: 10.1097/BPO.0b013e31828121b8
2013

Effect of vitamin D3 on bone density among patients with a neurofibromatosis type 1: A retrospective clinical study,Effet de la vitamine D3 sur la densité osseuse chez les patients porteurs d'une neurofibromatose 1: Une étude clinique rétrospective
Revue du Rhumatisme (Edition Francaise)
Schnabel, C. and Jett, K. and Friedman, J.M. and Frieling, I. and Kruse, H.-P. and Mautner, V.
DOI: 10.1016/j.rhum.2012.09.011
2013

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation
European Journal of Human Genetics
Dias, C. and McDonald, A. and Sincan, M. and Rupps, R. and Markello, T. and Salvarinova, R. and Santos, R.F. and Menghrajani, K. and Ahaghotu, C. and Sutherland, D.P. and Fortuno, E.S. and Kollmann, T.R. and Demos, M. and Friedman, J.M. and Speert, D.P. and Gahl, W.A. and Boerkoel, C.F.
DOI: 10.1038/ejhg.2013.20
2013

Safe lists for medications in pregnancy: Inadequate evidence base and inconsistent guidance from Web-based information, 2011
Pharmacoepidemiology and Drug Safety
Peters, S.L. and Lind, J.N. and Humphrey, J.R. and Friedman, J.M. and Honein, M.A. and Tassinari, M.S. and Moore, C.A. and Mathis, L.L. and Broussard, C.S.
DOI: 10.1002/pds.3410
2013

Approaches to Treating NF1 Tibial Pseudarthrosis
Journal of Pediatric Orthopaedics
David A. Stevenson and David Little and Linlea Armstrong and Alvin H. Crawford and Deborah Eastwood and Jan M. Friedman and Tiziana Greggi and Gloria Gutierrez and Kim Hunter-Schaedle and David L. Kendler and Mateusz Kolanczyk and Fergal Monsell and Matthew Oetgen and B. Stephens Richards and Aaron Schindeler and Elizabeth K. Schorry and David Wilkes and David H. Viskochil and Feng-Chun Yang and Florent Elefteriou
DOI: 10.1097/bpo.0b013e31828121b8
2013

Quality of Life in NF1
Neurofibromatosis Type 1
DOI: 10.1007/978-3-642-32864-0_8
11/2012

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
The American Journal of Human Genetics
M. Chiara Manzini and Dimira E. Tambunan and R. Sean Hill and Tim W. Yu and Thomas M. Maynard and Erin L. Heinzen and Kevin V. Shianna and Christine R. Stevens and Jennifer N. Partlow and Brenda J. Barry and Jacqueline Rodriguez and Vandana A. Gupta and Abdel-Karim Al-Qudah and Wafaa M. Eyaid and Jan M. Friedman and Mustafa A. Salih and Robin Clark and Isabella Moroni and Marina Mora and Alan H. Beggs and Stacey B. Gabriel and Christopher A. Walsh
DOI: 10.1016/j.ajhg.2012.07.009
09/2012

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome
American Journal of Medical Genetics Part A
Erica Tsang and Rosemarie Rupps and Barbara McGillivray and Patrice Eydoux and Marco Marra and Laura Arbour and Sylvie Langlois and Jan M. Friedman and Farah R. Zahir
DOI: 10.1002/ajmg.a.35568
08/2012

“I want to know what's in Pandora's box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing
American Journal of Medical Genetics Part A
Anne Townsend and Shelin Adam and Patricia H. Birch and Zoe Lohn and Francois Rousseau and Jan M. Friedman
DOI: 10.1002/ajmg.a.35554
08/2012

OTIS special issue preface
Birth Defects Research Part A: Clinical and Molecular Teratology
Christina Chambers and Jan M. Friedman
DOI: 10.1002/bdra.23069
07/2012

ABCDXXX: The obscenity of postmarketing surveillance for teratogenic effects
Birth Defects Research Part A: Clinical and Molecular Teratology
Jan M. Friedman
DOI: 10.1002/bdra.23043
07/2012

Prospective study of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of all-cause and cardiovascular disease mortality among 6000 US adults
The American Journal of Clinical Nutrition
Quanhe Yang and Lynn Bailey and Robert Clarke and W Dana Flanders and Tiebin Liu and Ajay Yesupriya and Muin J Khoury and Jan M Friedman
DOI: 10.3945/ajcn.111.022384
04/2012

Beyond the patient: The broader impact of genetic discrimination among individuals at risk of Huntington disease
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Yvonne Bombard and JoAnne Palin and Jan M. Friedman and Gerry Veenstra and Susan Creighton and Joan L. Bottorff and Michael R. Hayden and The Canadian Respond-HD Collaborative Research Group
DOI: 10.1002/ajmg.b.32016
01/2012

Molecular Basis of Cardiovascular Abnormalities in NF1
Neurofibromatosis Type 1
Brian K. Stansfield and David A. Ingram and Simon J. Conway and Jan M. Friedman
DOI: 10.1007/978-3-642-32864-0_23
2012

Valuing gene testing in children with possible neurofibromatosis 1
Clinical Genetics
Tsang, E. and Birch, P. and Friedman, J.M.
DOI: 10.1111/j.1399-0004.2011.01801.x
2012

Massively Parallel Sequencing
Molecular Analysis and Genome Discovery: Second Edition
Tucker, T. and Marra, M. and Friedman, J.M.
DOI: 10.1002/9781119977438.ch6
2012

Growth dynamics of plexiform neurofibromas: A retrospective cohort study of 201 patients with neurofibromatosis 1
Orphanet Journal of Rare Diseases
Nguyen, R. and Dombi, E. and Widemann, B.C. and Solomon, J. and Fuensterer, C. and Kluwe, L. and Friedman, J.M. and Mautner, V.-F.
DOI: 10.1186/1750-1172-7-75
2012

Using genomics for birth defects epidemiology: Can epigenetics cut the GxE gordian knot?
Birth Defects Research Part A: Clinical and Molecular Teratology
DOI: 10.1002/bdra.22875
12/2011

Reply
American Journal of Obstetrics and Gynecology
Cheryl S. Broussard and Sonja A. Rasmussen and Jan M. Friedman
DOI: 10.1016/j.ajog.2011.04.027
09/2011

Emerging issues in teratology: An introduction
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Sonja A. Rasmussen and Jan M. Friedman
DOI: 10.1002/ajmg.c.30305
07/2011

Evolving knowledge of the teratogenicity of medications in human pregnancy
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Margaret P. Adam and Janine E. Polifka and J.M. Friedman
DOI: 10.1002/ajmg.c.30313
07/2011

How do we know if an exposure is actually teratogenic in humans?
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
J.M. Friedman
DOI: 10.1002/ajmg.c.30302
07/2011

S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas
Journal of Neuroscience Research
Tracy Tucker and Vincent M. Riccardi and Carolyn Brown and John Fee and Margaret Sutcliffe and Juergen Vielkind and Janine Wechsler and Pierre Wolkenstein and Jan M. Friedman
DOI: 10.1002/jnr.22654
06/2011

The Sensitivity of Massively Parallel Sequencing for Detecting Candidate Infectious Agents Associated with Human Tissue
PLoS ONE
Richard A. Moore and René L. Warren and J. Douglas Freeman and Julia A. Gustavsen and Caroline Chénard and Jan M. Friedman and Curtis A. Suttle and Yongjun Zhao and Robert A. Holt
DOI: 10.1371/journal.pone.0019838
05/2011

Different Patterns of Mast Cells Distinguish Diffuse from Encapsulated Neurofibromas in Patients with Neurofibromatosis 1
Journal of Histochemistry & Cytochemistry
Tracy Tucker and Vincent M. Riccardi and Margaret Sutcliffe and Juergen Vielkind and Janine Wechsler and Pierre Wolkenstein and Jan M. Friedman
DOI: 10.1369/0022155411407340
04/2011

Maternal treatment with opioid analgesics and risk for birth defects
American Journal of Obstetrics and Gynecology
Cheryl S. Broussard and Sonja A. Rasmussen and Jennita Reefhuis and Jan M. Friedman and Michael W. Jann and Tiffany Riehle-Colarusso and Margaret A. Honein
DOI: 10.1016/j.ajog.2010.12.039
04/2011

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation
BMC Medical Genomics
Tracy Tucker and Alexandre Montpetit and David Chai and Susanna Chan and Sébastien Chénier and Bradley P Coe and Allen Delaney and Patrice Eydoux and Wan L Lam and Sylvie Langlois and Emmanuelle Lemyre and Marco Marra and Hong Qian and Guy A Rouleau and David Vincent and Jacques L Michaud and Jan M Friedman
DOI: 10.1186/1755-8794-4-25
03/2011

Empirical development of improved diagnostic criteria for neurofibromatosis 2
Genetics in Medicine
Michael E Baser and Jan M Friedman and Harry Joe and Andrew Shenton and Andrew J Wallace and Richard T Ramsden and D Gareth R Evans
DOI: 10.1097/gim.0b013e318211faa9
03/2011

Patterns of Antidepressant Medication Use Among Pregnant Women in a United States Population
The Journal of Clinical Pharmacology
Sura Alwan and Jennita Reefhuis and Sonja A. Rasmussen and Jan M. Friedman and National Birth Defects Prevention Study
DOI: 10.1177/0091270010373928
02/2011

Factors associated with experiences of genetic discrimination among individuals at risk for huntington disease
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Bombard, Y. and Palin, J.A. and Friedman, J.M. and Veenstra, G. and Creighton, S. and Paulsen, J.S. and Bottorff, J.L. and Hayden, M.R. and Guttman, M. and Giambattista, C. and Ludman, M. and Murphy, J. and Babineau-Sturk, T. and MacLeod, P. and Rice, J. and Martin, W. and Wieler, M. and Meschino, W. and Gibbons, C. and Raymond, L. and Decolongon, J. and Suchowersky, O. and Klimek, M.-L.
DOI: 10.1002/ajmg.b.31130
2011

Cerebrovasculopathy in NF1 associated with ocular and scalp defects
American Journal of Medical Genetics, Part A
Smith, M. and Heran, M.K. and Connolly, M.B. and Heran, H.K. and Friedman, J.M. and Jett, K. and Lyons, C.J. and Steinbok, P. and Armstrong, L.
DOI: 10.1002/ajmg.a.33788
2011

Empirical development of improved diagnostic criteria for neurofibromatosis 2
Genetics in Medicine
Baser, M.E. and Friedman, J.M. and Joe, H. and Shenton, A. and Wallace, A.J. and Ramsden, R.T. and Evans, D.G.R.
DOI: 10.1097/GIM.0b013e318211faa9
2011

A different approach to validating screening assays for developmental toxicity
Birth Defects Research Part B: Developmental and Reproductive Toxicology
George P. Daston and Robert E. Chapin and Anthony R. Scialli and Aldert H. Piersma and Edward W. Carney and John M. Rogers and Jan M. Friedman
DOI: 10.1002/bdrb.20276
11/2010

The principles of teratology: Are they still true?
Birth Defects Research Part A: Clinical and Molecular Teratology
Jan M. Friedman
DOI: 10.1002/bdra.20697
08/2010

Maternal use of bupropion and risk for congenital heart defects
American Journal of Obstetrics and Gynecology
Sura Alwan and Jennita Reefhuis and Lorenzo D. Botto and Sonja A. Rasmussen and Adolfo Correa and Jan M. Friedman
DOI: 10.1016/j.ajog.2010.02.015
07/2010

Value for Money? Array Genomic Hybridization for Diagnostic Testing for Genetic Causes of Intellectual Disability
The American Journal of Human Genetics
Dean A. Regier and Jan M. Friedman and Carlo A. Marra
DOI: 10.1016/j.ajhg.2010.03.009
05/2010

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2010.04.006
PubMed: PMC2869000
05/2010

Prevalence of dental caries in children with neurofibromatosis 1
Clinical Oral Investigations
Erica S. Tsang and Patricia Birch and Jan M. Friedman and Douglas Johnston and Tracy Tucker and Linlea Armstrong
DOI: 10.1007/s00784-009-0361-6
01/2010

Impact of BRCA mutations on female fertility and offspring sex ratio
American Journal of Human Biology
Moslehi, R. and Singh, R. and Lessner, L. and Friedman, J.M.
DOI: 10.1002/ajhb.20978
2010

Clinical and genetic aspects of neurofibromatosis 1
Genetics in Medicine
Jett, K. and Friedman, J.M.
DOI: 10.1097/GIM.0b013e3181bf15e3
2010

Duplications of the critical Rubinstein - Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome
Journal of Medical Genetics
Thienpont, B. and Béna, F. and Breckpot, J. and Philip, N. and Menten, B. and Van Esch, H. and Scalais, E. and Salamone, J.M. and Fong, C.-T. and Kussmann, J.L. and Grange, D.K. and Gorski, J.L. and Zahir, F. and Yong, S.L. and Morris, M.M. and Gimelli, S. and Fryns, J.-P. and Mortier, G. and Friedman, J.M. and Villard, L. and Bottani, A. and Vermeesch, J.R. and Cheung, S.W. and Devriendt, K.
DOI: 10.1136/jmg.2009.070573
2010

Parental perceived value of a diagnosis for intellectual disability (ID): A qualitative comparison of families with and without a diagnosis for their child's ID
American Journal of Medical Genetics Part A
Nancy L. Makela and Patricia H. Birch and Jan M. Friedman and Carlo A. Marra
DOI: 10.1002/ajmg.a.33050
11/2009

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
BMC Genomics
DOI: 10.1186/1471-2164-10-526
11/2009

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7
European Journal of Medical Genetics
Anna M. Lehman and Jan M. Friedman and David Chai and Farah R. Zahir and Marco A. Marra and Larraine Prisman and Erica Tsang and Patrice Eydoux and Linlea Armstrong
DOI: 10.1016/j.ejmg.2009.09.006
11/2009

Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options
American Journal of Medical Genetics Part A
Florent Elefteriou and Mateusz Kolanczyk and Aaron Schindeler and David H. Viskochil and Janet M. Hock and Elizabeth K. Schorry and Alvin H. Crawford and Jan M. Friedman and David Little and Juha Peltonen and John C. Carey and David Feldman and Xijie Yu and Linlea Armstrong and Patricia Birch and David L. Kendler and Stefan Mundlos and Feng-Chun Yang and Gina Agiostratidou and Kim Hunter-Schaedle and David A. Stevenson
DOI: 10.1002/ajmg.a.33045
10/2009

Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine
The American Journal of Human Genetics
Tracy Tucker and Marco Marra and Jan M. Friedman
DOI: 10.1016/j.ajhg.2009.06.022
08/2009

Clinical and genetic aspects of neurofibromatosis 1
Genetics in Medicine
DOI: 10.1097/gim.0b013e3181bf15e3
08/2009

Big risks in small groups: The difference between epidemiology and counselling
Birth Defects Research Part A: Clinical and Molecular Teratology
J. M. Friedman
DOI: 10.1002/bdra.20606
07/2009

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies
American Journal of Medical Genetics Part A
Farah R. Zahir and Sylvie Langlois and Kim Gall and Patrice Eydoux and Marco A. Marra and Jan M. Friedman
DOI: 10.1002/ajmg.a.32827
06/2009

Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey
BMJ
Y. Bombard and G. Veenstra and J. M Friedman and S. Creighton and L. Currie and J. S Paulsen and J. L Bottorff and M. R Hayden and the Canadian Respond-HD Collaborative Research Group
DOI: 10.1136/bmj.b2175
06/2009

Valuing the benefit of diagnostic testing for genetic causes of idiopathic developmental disability: willingness to pay from families of affected children
Clinical Genetics
DA Regier and JM Friedman and N Makela and M Ryan and CA Marra
DOI: 10.1111/j.1399-0004.2009.01193.x
06/2009

Safety of Selective Serotonin Reuptake Inhibitors in Pregnancy
CNS Drugs
Sura Alwan and Jan M. Friedman
DOI: 10.2165/00023210-200923060-00004
05/2009

Serum Folate and Cancer Mortality Among U.S. Adults: Findings from the Third National Health and Nutritional Examination Survey Linked Mortality File
Cancer Epidemiology Biomarkers & Prevention
Q. Yang and R. M. Bostick and J.M. Friedman and W. D. Flanders
DOI: 10.1158/1055-9965.epi-08-0908
05/2009

High-resolution array genomic hybridization in prenatal diagnosis
Prenatal Diagnosis
J. M. Friedman
DOI: 10.1002/pd.2129
01/2009

Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas
Journal of Medical Genetics
Tucker, T. and Friedman, J.M. and Friedrich, R.E. and Wenzel, R. and Fünsterer, C. and Mautner, V.-F.
DOI: 10.1136/jmg.2008.061051
2009

Serum folate and cancer mortality among U.S. adults: Findings from the third national health and nutritional examination survey linked mortality file
Cancer Epidemiology Biomarkers and Prevention
Yang, Q. and Bostick, R.M. and Friedman, J.M. and Flanders, W.D.
DOI: 10.1158/1055-9965.EPI-08-0908
2009

Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1)
Journal of Medical Genetics
Tucker, T. and Schnabel, C. and Hartmann, M. and Friedrich, R.E. and Frieling, I. and Kruse, H.-P. and Mautner, V.-F. and Friedman, J.M.
DOI: 10.1136/jmg.2008.061895
2009

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients
Human Mutation
Clelia Prattichizzo and Marina Macca and Valeria Novelli and Giovanna Giorgio and Adriano Barra and Brunella Franco and Oral-Facial-Digital Type I (OFDI) Collaborative Group
DOI: 10.1002/humu.20792
10/2008

Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1
Neuro-Oncology
Victor-F. Mautner and Florence A. Asuagbor and Eva Dombi and Carsten Fu¨nsterer and Lan Kluwe and Ralf Wenzel and Brigitte C. Widemann and Jan M. Friedman
DOI: 10.1215/15228517-2008-011
08/2008

Prevalence and effects of gene-gene and gene-nutrient interactions on serum folate and serum total homocysteine concentrations in the United States: findings from the third National Health and Nutrition Examination Survey DNA Bank
The American Journal of Clinical Nutrition
Quan-He Yang and Lorenzo D Botto and Margaret Gallagher and JM Friedman and Christopher L Sanders and Deborah Koontz and Stanimila Nikolova and J David Erickson and Karen Steinberg
DOI: 10.1093/ajcn/88.1.232
07/2008

Kallmann syndrome associated with choanal atresia
Clinical Genetics
Victor R. Klein and Jan M. Friedman and Gail S. Brookshire and Orval E. Brown and Clare D. Edman
DOI: 10.1111/j.1399-0004.1987.tb02800.x
06/2008

A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints
Psychiatric Genetics
DOI: 10.1097/ypg.0b013e3282f97df7
06/2008

Binary developmental commitments in normal and abnormal human morphogenesis
Clinical Genetics
J. M. Friedman
DOI: 10.1111/j.1399-0004.1980.tb01362.x
04/2008

An unusual connective tissue disease in mother and son: A “new” type of Ehlers-Danlos syndrome?
Clinical Genetics
J. M. Friedman and M. J. E. Harrod
DOI: 10.1111/j.1399-0004.1982.tb00958.x
04/2008

Familial carcinoma of the pancreas
Clinical Genetics
DOI: 10.1111/j.1399-0004.1976.tb01598.x
04/2008

Umbilical dysmorphology. The importance of contemplating the Belly Button
Clinical Genetics
J. M. Friedman
DOI: 10.1111/j.1399-0004.1985.tb00408.x
04/2008

Genetic counseling for autosomal dominant diseases with a negative family history
Clinical Genetics
J. M. Friedman
DOI: 10.1111/j.1399-0004.1985.tb00186.x
04/2008

The use of probability trees in genetic counselling
Clinical Genetics
J. M. Friedman and R. David Fish
DOI: 10.1111/j.1399-0004.1980.tb01784.x
04/2008

Structural Variation of Chromosomes in Autism Spectrum Disorder
The American Journal of Human Genetics
Christian R. Marshall and Abdul Noor and John B. Vincent and Anath C. Lionel and Lars Feuk and Jennifer Skaug and Mary Shago and Rainald Moessner and Dalila Pinto and Yan Ren and Bhooma Thiruvahindrapduram and Andreas Fiebig and Stefan Schreiber and Jan Friedman and Cees E.J. Ketelaars and Yvonne J. Vos and Can Ficicioglu and Susan Kirkpatrick and Rob Nicolson and Leon Sloman and Anne Summers and Clare A. Gibbons and Ahmad Teebi and David Chitayat and Rosanna Weksberg and Ann Thompson and Cathy Vardy and Vicki Crosbie and Sandra Luscombe and Rebecca Baatjes and Lonnie Zwaigenbaum and Wendy Roberts and Bridget Fernandez and Peter Szatmari and Stephen W. Scherer
DOI: 10.1016/j.ajhg.2007.12.009
02/2008

Drug safety in pregnant women and their babies: Ignorance not bliss
Clinical Pharmacology and Therapeutics
Chambers, C.D. and Polifka, J.E. and Friedman, J.M.
DOI: 10.1038/sj.clpt.6100448
2008

A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: Localization and identification of candidate genes at the breakpoints
Psychiatric Genetics
Vincent, J.B. and Choufani, S. and Horike, S.-I. and Stachowiak, B. and Li, M. and Dill, F.J. and Marshall, C. and Hrynchak, M. and Pewsey, E. and Ukadike, K.C. and Friedman, J.M. and Srivastava, A.K. and Scherer, S.W.
DOI: 10.1097/YPG.0b013e3282f97df7
2008

Use of affymetrix mapping arrays in the diagnosis of gene copy number variation
Current Protocols in Human Genetics
Delaney, A.D. and Qian, H. and Friedman, J.M. and Marra, M.A.
DOI: 10.1002/0471142905.hg0813s59
2008

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1a
Journal of Medical Genetics
Zahir, F.R. and Baross, A. and Delaney, A.D. and Eydoux, P. and Fernandes, N.D. and Pugh, T. and Marra, M.A. and Friedman, J.M.
DOI: 10.1136/jmg.2007.054437
2008

Immunogenetic studies of juvenile dermatomyositis
Tissue Antigens
J. M. Friedman and L. M. Pachman and M. L. Maryjowski and O. Jonasson and N. D. Battles and W. E. Crowe and C. W. Fink and V. Hanson and J. E. Levinson and C. H. Spencer and D. B. Sullivan
DOI: 10.1111/j.1399-0039.1983.tb00371.x
2008

Pregnancy and postnatal outcome of mosaic isochromosome 20q
Prenatal Diagnosis
DOI: 10.1002/pd.1636
12/2007

Early primary tooth eruption in neurofibromatosis 1 individuals
European Journal of Oral Sciences
Marga Lammert and Reinhard E. Friedrich and Jan M. Friedman and Victor-Felix Mautner and Tracy Tucker
DOI: 10.1111/j.1600-0722.2007.00474.x
10/2007

Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data
BMC Bioinformatics
DOI: 10.1186/1471-2105-8-368
10/2007

Increased dental caries in people with neurofibromatosis 1
Clinical Genetics
T Tucker and P Birch and DM Savoy and JM Friedman
DOI: 10.1111/j.1399-0004.2007.00886.x
08/2007

The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility
Clinical Genetics
F Zahir and JM Friedman
DOI: 10.1111/j.1399-0004.2007.00847.x
08/2007

The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1
Genetics in Medicine
David A Stevenson and David H Viskochil and Elizabeth K Schorry and Alvin H Crawford and Jacques D'Astous and Kathleen A Murray and J M Friedman and Linlea Armstrong and John C Carey
DOI: 10.1097/gim.0b013e3180986e05
07/2007

Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility
Fertility and Sterility
Rosanna Weksberg and Cheryl Shuman and Louise Wilkins-Haug and Mellissa Mann and Mary Croughan and Donna Stewart and Catherine Rakowsky and Arthur Leader and Judith Hall and J.M. Friedman and Joe Leigh Simpson and Lewis Holmes and Claire Infante-Rivard
DOI: 10.1016/j.fertnstert.2006.11.114
07/2007

Use of Selective Serotonin-Reuptake Inhibitors in Pregnancy and the Risk of Birth Defects
New England Journal of Medicine
Sura Alwan and Jennita Reefhuis and Sonja A. Rasmussen and Richard S. Olney and Jan M. Friedman
DOI: 10.1056/nejmoa066584
06/2007

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
Journal of Medical Genetics
F. Zahir and H. V Firth and A. Baross and A. D Delaney and P. Eydoux and W. T Gibson and S. Langlois and H. Martin and L. Willatt and M. A Marra and J. M Friedman
DOI: 10.1136/jmg.2007.050823
05/2007

Associations of osseous abnormalities in Neurofibromatosis 1
American Journal of Medical Genetics Part A
DOI: 10.1002/ajmg.a.31754
05/2007

Race-ethnicity differences in folic acid intake in women of childbearing age in the United States after folic acid fortification: findings from the National Health and Nutrition Examination Survey, 2001–2002
The American Journal of Clinical Nutrition
Quan-He Yang and Heather K Carter and Joseph Mulinare and RJ Berry and JM Friedman and J David Erickson
DOI: 10.1093/ajcn/85.5.1409
05/2007

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
Journal of Medical Genetics
B. Menten and K. Buysse and F. Zahir and J. Hellemans and S. J Hamilton and T. Costa and C. Fagerstrom and G. Anadiotis and D. Kingsbury and B. C McGillivray and M. A Marra and J. M Friedman and F. Speleman and G. Mortier
DOI: 10.1136/jmg.2006.047860
04/2007

Use of selective serotonin-reuptake inhibitors in pregnancy and the risk of birth defects
New England Journal of Medicine
Alwan, S. and Reefhuis, J. and Rasmussen, S.A. and Olney, R.S. and Friedman, J.M.
DOI: 10.1056/NEJMoa066584
2007

The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1
Genetics in Medicine
Stevenson, D.A. and Viskochil, D.H. and Schorry, E.K. and Crawford, A.H. and D'Astous, J. and Murray, K.A. and Friedman, J.M. and Armstrong, L. and Carey, J.C.
DOI: 10.1097/GIM.0b013e3180986e05
2007

Trends and racial disparities in muscular dystrophy deaths in the United States, 1983–1998: An analysis of multiple cause mortality data
American Journal of Medical Genetics Part A
DOI: 10.1002/ajmg.a.31437
10/2006

Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation
American Journal of Human Genetics
DOI: 10.1086/507471
PubMed: PMC1559542
09/2006

Ensuring the Safe and Effective Use of Medications During Pregnancy: Planning and Prevention Through Preconception Care
Maternal and Child Health Journal
Janet D. Cragan and J. M. Friedman and Lewis B. Holmes and Kathleen Uhl and Nancy S. Green and Laura Riley
DOI: 10.1007/s10995-006-0102-2
07/2006

Survival in infants with Down syndrome, Metropolitan Atlanta, 1979-1998
The Journal of Pediatrics
Sonja A. Rasmussen and Lee-Yang Wong and Adolfo Correa and Don Gambrell and J.M. Friedman
DOI: 10.1016/j.jpeds.2006.01.010
06/2006

Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1
Journal of Medical Genetics
M Lammert and J M Friedman and H J Roth and R E Friedrich and L Kluwe and D Atkins and T Schooler and V-F Mautner
DOI: 10.1136/jmg.2006.041095
03/2006

Improvement in Stroke Mortality in Canada and the United States, 1990 to 2002
Circulation
Q. Yang
DOI: 10.1161/circulationaha.105.570846
03/2006

Increasing the specificity of diagnostic criteria for schwannomatosis
Neurology
M. E. Baser and J. M. Friedman and D. G. R. Evans
DOI: 10.1212/01.wnl.0000201190.89751.41
03/2006

Authors' response to a refinement to 'how many genes underlie the occurrence of common complex diseases in the population?' by Ramal Moonesinghe [9]
International Journal of Epidemiology
Yang, Q. and Khoury, M.J. and Friedman, J.M. and Little, J. and Flanders, W.D.
DOI: 10.1093/ije/dyi289
2006

Selective serotonin-reuptake inhibitors and persistent pulmonary hypertension of the newborn [12]
New England Journal of Medicine
Reefhuis, J. and Rasmussen, S.A. and Friedman, J.M.
DOI: 10.1056/NEJMc060602
2006

ACE inhibitors and congenital anomalies
New England Journal of Medicine
Friedman, J.M.
DOI: 10.1056/NEJMe068089
2006

Improvement in stroke mortality in Canada and the United States, 1990 to 2002
Circulation
Yang, Q. and Botto, L.D. and Erickson, J.D. and Berry, R.J. and Sambell, C. and Johansen, H. and Friedman, J.M.
DOI: 10.1161/CIRCULATIONAHA.105.570846
2006

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH
American Journal of Medical Genetics Part A
DOI: 10.1002/ajmg.a.31015
11/2005

Analysis of NF1 transcriptional regulatory elements
American Journal of Medical Genetics Part A
DOI: 10.1002/ajmg.a.30699
07/2005

Reproduction and Transplantation: Report on the AST Consensus Conference on Reproductive Issues and Transplantation
American Journal of Transplantation
Dianne B. McKay and Michelle A. Josephson
DOI: 10.1111/j.1600-6143.2005.00969.x
07/2005

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2
Journal of Medical Genetics
M E Baser
DOI: 10.1136/jmg.2004.029504
07/2005

Association between benign and malignant peripheral nerve sheath tumors in NF1
Neurology
T. Tucker and P. Wolkenstein and J. Revuz and J. Zeller and J. M. Friedman
DOI: 10.1212/01.wnl.0000168830.79997.13
07/2005

How many genes underlie the occurrence of common complex diseases in the population?
International Journal of Epidemiology
Quanhe Yang and Muin J Khoury and JM Friedman and Julian Little and W Dana Flanders
DOI: 10.1093/ije/dyi130
07/2005

Decreased bone mineral density in patients with neurofibromatosis 1
Osteoporosis International
Marga Lammert and Martin Kappler and Victor-Felix Mautner and Kurt Lammert and Stephan Störkel and Jan M. Friedman and Derek Atkins
DOI: 10.1007/s00198-005-1940-2
06/2005

Diagnostic criteria for schwannomatosis
Neurology
M. MacCollin and E. A. Chiocca and D. G. Evans and J. M. Friedman and R. Horvitz and D. Jaramillo and M. Lev and V. F. Mautner and M. Niimura and S. R. Plotkin and C. N. Sang and A. Stemmer-Rachamimov and E. S. Roach
DOI: 10.1212/01.wnl.0000163982.78900.ad
06/2005

Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?
Clinical Genetics
S Alwan and SJ Tredwell and JM Friedman
DOI: 10.1111/j.1399-0004.2005.00410.x
03/2005

Angiotensin II receptor antagonist treatment during pregnancy
Birth Defects Research Part A: Clinical and Molecular Teratology
S. Alwan and J.E. Polifka and J.M. Friedman
DOI: 10.1002/bdra.20102
02/2005

Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients
American Journal of Medical Genetics Part A
Kiarash Khosrotehrani and Sylvie Bastuji-Garin and Vincent M. Riccardi and Patricia Birch and Jan M. Friedman and Pierre Wolkenstein
DOI: 10.1002/ajmg.a.30394
01/2005

Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment
Archives of Dermatology
Marga Lammert and Jan M. Friedman and Lan Kluwe and Victor F. Mautner
DOI: 10.1001/archderm.141.1.71
01/2005

Addendum: Sartan treatment during pregnancy
Birth Defects Research Part A - Clinical and Molecular Teratology
Alwan, S. and Polifka, J.E. and Friedman, J.M.
DOI: 10.1002/bdra.20194
2005

Diagnostic criteria for schwannomatosis
Neurology
MacCollin, M. and Chiocca, E.A. and Evans, D.G. and Friedman, J.M. and Horvitz, R. and Jaramillo, D. and Lev, M. and Mautner, V.F. and Niimura, M. and Plotkin, S.R. and Sang, C.N. and Stemmer-Rachamimov, A. and Roach, E.S.
DOI: 10.1212/01.WNL.0000163982.78900.AD
2005

Genotype-Phenotype Correlations for Nervous System Tumors in Neurofibromatosis 2: A Population-Based Study
The American Journal of Human Genetics
Michael E. Baser and Lisa Kuramoto and Harry Joe and J.M. Friedman and Andrew J. Wallace and James E. Gillespie and Richard T. Ramsden and D. Gareth R. Evans
DOI: 10.1086/422700
08/2004

Revisiting the Clinical Validity of Multiplex Genetic Testing in Complex Diseases: Reply to Janssens et al.
The American Journal of Human Genetics
Quanhe Yang and Muin J. Khoury and Lorenzo Botto and J.M. Friedman and W. Dana Flanders
DOI: 10.1086/382054
03/2004

Utility and limitations of genetic disease databases in clinical genetics research: A neurofibromatosis 1 database example
American Journal of Medical Genetics
DOI: 10.1002/ajmg.c.30007
01/2004

Communicating Risks during Pregnancy: A Workshop on the Use of Data from Animal Developmental Toxicity Studies in Pregnancy Labels for Drugs
Birth Defects Research Part A - Clinical and Molecular Teratology
Scialli, A.R. and Buelke-Sam, J.L. and Chambers, C.D. and Friedman, J.M. and Kimmel, C.A. and Polifka, J.E. and Tassinari, M.S.
DOI: 10.1002/bdra.10150
2004

Analysis of neurofibromatosis 1 (NF1) lesions by body segment
American Journal of Medical Genetics
Chana Palmer and Jacek Szudek and Harry Joe and Vincent M. Riccardi and J.M. Friedman
DOI: 10.1002/ajmg.a.20354
2004

Analysis of Neurofibromatosis 1 (NF1) Lesions by Body Segment
American Journal of Medical Genetics
Palmer, C. and Szudek, J. and Joe, H. and Riccardi, V.M. and Friedman, J.M.
2004

Evaluating chemical and other agent exosures for reproductive and developmental toxicity
Journal of Toxicology and Environmental Health - Part A
Mitchell, A.E. and Bakshi, K.S. and Kimmel, C.A. and Buck, G.M. and Feuston, M.H. and Foster, P.M.D. and Friedman, J.M. and Holson, J.F. and Hughes, C.L. and Moore, J.A. and Schwetz, B.A. and Scialli, A.R. and Scott, W.J. and Vorhees, C.V. and Zirkin, B.R.
DOI: 10.1080/15287390490460994
2004

Genotype-phenotype correlations for cataracts in neurofibromatosis 2
Journal of Medical Genetics
M E Baser
DOI: 10.1136/jmg.40.10.758
10/2003

ConstitutionalNF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors
Human Mutation
Lan Kluwe and Reinhard E. Friedrich and Matthias Peiper and Jan Friedman and Victor-F. Mautner
DOI: 10.1002/humu.9193
09/2003

Exploring the “two-hit hypothesis” in NF2: Tests of two-hit and three-hit models of vestibular schwannoma development
Genetic Epidemiology
Ryan Woods and J. M. Friedman and D. Gareth R Evans and Michael E. Baser and Harry Joe
DOI: 10.1002/gepi.10238
05/2003

Population-Based Analyses of Mortality in Trisomy 13 and Trisomy 18
PEDIATRICS
S. A. Rasmussen and L.-Y. C. Wong and Q. Yang and K. M. May and J. M. Friedman
DOI: 10.1542/peds.111.4.777
04/2003

Human Chromosome 7: DNA Sequence and Biology
Science
S. W. Scherer
DOI: 10.1126/science.1083423
04/2003

On the Use of Population Attributable Fraction to Determine Sample Size for Case-Control Studies of Gene-Environment Interaction
Epidemiology
Quanhe Yang and Muin J. Khoury and J. M. Friedman and W. Dana Flanders
DOI: 10.1097/01.ede.0000040256.22618.12
03/2003

Improving the Prediction of Complex Diseases by Testing for Multiple Disease-Susceptibility Genes
The American Journal of Human Genetics
Quanhe Yang and Muin J. Khoury and Lorenzo Botto and J.M. Friedman and W. Dana Flanders
DOI: 10.1086/367923
03/2003

Patterns of associations of clinical features in neurofibromatosis 1 (NF1)
Human Genetics
Szudek, J. and Evans, D.G. and Friedman, J.M.
2003

Patterns of associations of clinical features in neurofibromatosis 1 (NF1)
Human Genetics
DOI: 10.1007/s00439-002-0871-7
2003

On the use of population attributable fraction to determine sample size for case-control studies of gene-environment interaction
Epidemiology
Yang, Q. and Khoury, M.J. and Friedman, J.M. and Flanders, W.D.
DOI: 10.1097/00001648-200303000-00009
2003

Implications of research in male-mediated developmental toxicity to clinical counsellors, regulators, and occupational safety officers
Advances in Experimental Medicine and Biology
Friedman, J.M.
DOI: 10.1007/978-1-4419-9190-4_19
2003

Developmental toxicity of ribavirin/IFa combination therapy: Is the label more dangerous than the drugs?
Birth Defects Research Part A - Clinical and Molecular Teratology
Polifka, J.E. and Friedman, J.M.
DOI: 10.1002/bdra.10020
2003

Pathogenesis of hereditary tumors: beyond the “two-hit” hypothesis
Clinical Genetics
T Tucker and JM Friedman
DOI: 10.1034/j.1399-0004.2002.620501.x
11/2002

Predictors of the Risk of Mortality in Neurofibromatosis 2
The American Journal of Human Genetics
Michael E. Baser and J.M. Friedman and Dana Aeschliman and Harry Joe and Andrew J. Wallace and Richard T. Ramsden and D. Gareth R. Evans
DOI: 10.1086/342716
10/2002

Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2)
Genetic Epidemiology
Y. Zhao and R.A. Kumar and M.E. Baser and D.G.R. Evans and A. Wallace and L. Kluwe and V.F. Mautner and D.M. Parry and G.A. Rouleau and H. Joe and J.M. Friedman
DOI: 10.1002/gepi.10181
10/2002

Teratogenicity of Recently Introduced Medications in Human Pregnancy
Obstetrics & Gynecology
W. Y. Lo and J. M. Friedman
DOI: 10.1097/00006250-200209000-00012
09/2002

Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1)
Neurology
D. H. Gutmann and S. A. Rasmussen and P. Wolkenstein and M. M. MacCollin and A. Guha and P. D. Inskip and K. N. North and M. Poyhonen and P. H. Birch and J. M. Friedman
DOI: 10.1212/wnl.59.5.759
09/2002

Unidentified bright objects associated with features of neurofibromatosis 1
Pediatric Neurology
Jacek Szudek and J.M Friedman
DOI: 10.1016/s0887-8994(02)00403-4
08/2002

Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1)
Genetic Epidemiology
J. Szudek and H. Joe and J.M. Friedman
DOI: 10.1002/gepi.1129
08/2002

Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force
Genetics in Medicine
J M Friedman and Jack Arbiser and Jonathan A Epstein and David H Gutmann and Stephen J Huot and Angela E Lin and Bruce Mcmanus and Bruce R Korf
DOI: 10.1097/00125817-200205000-00002
06/2002

Vertebral scalloping in neurofibromatosis 1: A quantitative approach
Canadian Journal of Surgery
PubMed: PMC3686947
06/2002

Teratogen update: Azathioprine and 6-mercaptopurine
Teratology
Janine E. Polifka and J.M. Friedman
DOI: 10.1002/tera.10043
04/2002

Update on new developments in the study of human teratogens
Teratology
T.H. Shepard and R.L. Brent and J.M. Friedman and K.L. Jones and R.K. Miller and C.A. Moore and J.E. Polifka
DOI: 10.1002/tera.10032
03/2002

Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study
The Lancet
Quanhe Yang and Sonja A Rasmussen and JM Friedman
DOI: 10.1016/s0140-6736(02)08092-3
03/2002

Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study
Journal of Neurosurgery
Victor-Felix Mautner and Michael E. Baser and Sarang D. Thakkar and Urs M. Feigen and J. M. Friedman and Lan Kluwe
DOI: 10.3171/jns.2002.96.2.0223
02/2002

Medical genetics: 1. Clinical teratology in the age of genomics
CMAJ. Canadian Medical Association Journal
Polifka, J.E. and Friedman, J.M.
2002

Mortality associated with Down's syndrome in the USA from 1983 to 1997: A population-based study
Lancet
Yang, Q. and Rasmussen, S.A. and Friedman, J.M.
DOI: 10.1016/S0140-6736(02)08092-3
2002

Baseline MRI characteristics of patients at high risk for multiple sclerosis: Results from the CHAMPS trial
Multiple Sclerosis
Simon, J. and O'Connor, P. and Fleming, P. and Gray, T. and Jacobs, L. and Miller, C. and Munschauer, F. and Kinkel, R.P. and Bolibrush, D. and Cohen, J. and Freedman, M. and Webb, U. and Rabinowicz, H. and Metz, L. and Davis, A. and Patry, D. and Hashimoto, S. and Morrison, W. and Oger, J. and Panitch, H. and Costello, K. and Bever, C. and Stuart, W. and Court, D. and Stuart, D. and Tornatore, C. and Barlett, D. and Richert, J. and Duquette, P. and Dubois, R. and Bernier, G. and Scott, T. and Pappert, L. and Brillman, J. and Fenton III, W. and Anderson, T. and Astruc, J. and Rose, J. and Kline, J. and Burns, J. and Murray, T. and Weldon, P. and Bhan, F. and Wall, M. and Vining, L. and Grabowski, T. and Apatoff, B. and Arapello, K. and Friedman, J. and Galetta, S. and Pfohl, D. and Liu, G. and Rice, G. and Bental, T. and Mandalfind, P. and Eggenberger, E. and Snider, D. and Kaufman, D. and Guarnaccia, J. and Lesser, R. and Goldstein, J. and Reiss, M. and Carter, E. and Glista, G. and Rolak, L. and Scheller, L. and Jacobson, D. and Goodman, A. and Petrie, M. and Mattson, D. and Karlin, K. and Wallin, A. and Stefoski, D. and Brod, S. and Cerretta, E. and Wolinsky, J. and Arnold, D. and Arnoutelis, R. and Durcan, L. and Kupersmith, M. and Cappolino, L. and Herbert, J. and Rosenberg, J. and McHugh, D. and Blumenfeld, A. and Smith, C. and Kuder, D. and Hamilton, S. and Thurston, S. and McGee, J. and O'Bannon, J. and Kaufman, M. and Butler, M. and Putnam, S. and Rammohan, K. and Stiffort, A. and Lynn, J. and Selhourst, J. and Holzemer, E.
DOI: 10.1191/1352458502ms819oa
2002

MRI predictors of early conversion to clinically definite MS in the CHAMPS placebo group
Neurology
Simon, J.H. and O'Connor, P. and Fleming, P. and Gray, T. and Jacobs, L. and Miller, C. and Munschauer, F. and Kinkel, R.P. and Bolibrush, D. and Cohen, J. and Freedman, M. and Webb, U. and Rabinowicz, H. and Metz, L.M. and Patry, D. and Yeung, M. and Peters, S. and Hashimoto, S. and Morrison, W. and Oger, J. and Panitch, H. and Costello, K. and Bever, C. and Stuart, W. and Court, D. and Stuart, D. and Tornatore, C. and Bartlett, D. and Richert, J. and Duquette, P. and Dubois, R. and Bernier, G. and Scott, T. and Pappert, L. and Brillman, J. and Felton III, W. and Anderson, T. and Astruc, J. and Rose, J. and Kline, J. and Burns, J. and Murray, T. and Weldon, P. and Bhan, V. and Maxner, C.E. and Wall, M. and Vining, L. and Grabowski, T. and Apatoff, B. and Orapello, C. and Friedman, J. and Galetta, S. and Pfohl, D. and Liu, G. and Rice, G. and Bental, T. and Mandalfino, P. and Eggenberger, E. and Snider, D. and Kaufman, D. and Guarnaccia, J. and Lesser, R. and Goldstein, J. and Reiss, M. and Carter, E. and Glista, G. and Rolak, L. and Scheller, L. and Jacobson, D. and Warner, J. and Goodman, A. and Petrie, M. and Mattson, D. and Karlin, K. and Wallin, A. and Stefoski, D. and Brod, S. and Cerretta, E. and Wolinsky, J. and Arnold, D. and Arnoutelis, R. and Durcan, L. and Kupersmith, M. and Cappolino, L. and Herbert, J. and Rosenberg, J. and McHugh, D. and Blumenfeld, A. and Smith, C. and Kuder, D. and Hamilton, S. and Thurston, S. and McGee, J. and O'Bannon, J. and Kaufman, M. and Butler, M. and Putnam, S. and Ramohan, K. and Siffort, A.
DOI: 10.1212/wnl.59.7.998
2002

Predictors of short-term disease activity following a first clinical demyelinating event: Analysis of the CHAMPS placebo group
Multiple Sclerosis
O'Connor, P. and Fleming, P. and Gray, T. and Jacobs, L. and Miller, C. and Munschauer, F. and Kinkel, R.P. and Bolibrush, D. and Cohen, J. and Freedman, M. and Webb, U. and Rabinowicz, H. and Metz, L.M. and Patry, D. and Yeung, M. and Peters, S. and Hashimoto, S. and Morrison, W. and Oger, J. and Panitch, H. and Costello, K. and Bever, C. and Stuart, W. and Court, D. and Stuart, D. and Tornatore, C. and Bartlett, D. and Richert, J. and Duquette, P. and Dubois, R. and Bernier, G. and Scott, T. and Pappert, L. and Brillman, J. and Felton, W. and Anderson, T. and Astruc, J. and Rose, J. and Kline, J. and Burns, J. and Murray, T. and Weldon, P. and Bhan, V. and Maxner, C.E. and Wall, M. and Vining, L. and Grabowski, T. and Apatoff, B. and Orapello, C. and Friedman, J. and Galetta, S. and Pfohl, D. and Liu, G. and Rice, G. and Bental, T. and Mandalfino, P. and Eggenberger, E. and Snider, D. and Kaufman, D. and Guarnaccia, J. and Shepard, M. and Goldstein, J. and Reiss, M. and Carter, E. and Glista, G. and Rolak, L. and Scheller, L. and Jacobson, D. and Warner, J. and Goodman, A. and Petrie, M. and Mattson, D. and Karlin, K. and Wallin, A. and Stefoski, D. and Brod, S. and Cerretta, E. and Wolinsky, J. and Arnold, D. and Arnoutelis, R. and Durcan, L. and Kupersmith, M. and Cappolino, L. and Herbert, J. and Rosenberg, J. and McHugh, D. and Blumenfeld, A. and Smith, C. and Kuder, D. and Hamilton, S. and Thurston, S. and McGee, J. and O'Bannon, J. and Kaufman, M. and Butler, M. and Putnam, S. and Rammohan, K. and Siffort, A. and Lynn, J. and Selhorst, J. and Holzemer, E. and Hayat, G. and Tselis, A. and Coon, C. and Lisak, R. and Wray, S. and Sexton, P. and Lehrich, J. and Cook, S. and Jotkowitz, A. and Bansil, S. and Newman, N. and Brown, J. and Pennell, P. and Gilmore, J. and Carter, J. and Buckner, J. and Caselli, R. and Kerson, L. and Camasso, M. and Donneief, G. and Cooper, J. and Richardson, B. and Kung, C. and Goodwin, J. and Johnson, T. and Gulati, A. and Hedges, T. and Yardley, C. and Tran, T. and Brown, W. and Ehrenberg, B. and Horowitz, S. and Bonnett, A. and Burger, R. and Javerbaum, J. and Griffin, C. and Whaley, R.J. and Jeffery, D. and Jackson, S.E. and Bastings, E. and Kasper, L. and Ryan, K. and Bernat, J. and Mass, M. and Cooper Hanel, S. and Bourdette, D. and Guy, J. and Wilson, M. and Greer, M. and Lucchinetti, C. and Botten, M. and Noseworthy, J. and Walker, A. and Muntz, B. and Tyor, W. and Simon, J. and Meyer, M. and Leek, R. and Gustafson, C. and Singel, D. and Quandt, B. and Miller, D.E. and Coombs, B. and Cajade-Law, A. and Lajaunie, M. and Escott, E. and Miller, A. and Vollmer, T. and Brownscheidle, C. and Murray, T.J. and Antel, J. and Myers, L. and Birnbaum, G. and Reingold, S. and Burde, R. and Sibley, W. and Ware, J. and Blanchard, N. and Lloyd, K. and Park, H. and Sandrock, A. and Simonian, N. and Slasor, P. and Votruba, F. and White, K. and Beck, R.W. and Chandler, D.L. and Cole, S.
DOI: 10.1191/1352458502ms825oa
2002

Vertebral scalloping in neurofibromatosis type 1: A quantitative approach
Canadian Journal of Surgery
Kwok, E.S.H. and Sawatzky, B. and Birch, P. and Friedman, J.M. and Tredwell, S.J.
2002

Evaluation of clinical diagnostic criteria for neurofibromatosis 2
Neurology
M. E. Baser and J. M. Friedman and A. J. Wallace and R. T. Ramsden and H. Joe and D. G.R. Evans
DOI: 10.1212/01.wnl.0000035638.74084.f4
2002

Teratogenicity of recently introduced medications in human pregnancy
Obstetrics and Gynecology
DOI: 10.1016/S0029-7844(02)02122-1
2002

The two sites of fusion of the neural folds and the two neuropores in the human embryo
Teratology
Shepard, T.H. and Brent, R.L. and Friedman, J.M. and Jones, K.L. and Miller, R.K. and Moore, C.A. and Polifka, J.E.
DOI: 10.1002/tera.10007
2002

Neurofibromatosis 1: Clinical manifestations and diagnostic criteria
Journal of Child Neurology
Friedman, J.M.
DOI: 10.1177/088307380201700802
2002

Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1)
Neurology
Gutmann, D.H. and Rasmussen, S.A. and Wolkenstein, P. and MacCollin, M.M. and Guha, A. and Inskip, P.D. and North, K.N. and Poyhonen, M. and Birch, P.H. and Friedman, J.M.
DOI: 10.1212/WNL.59.5.759
2002

Unidentified bright objects associated with features of neurofibromatosis 1
Pediatric Neurology
Szudek, J. and Friedman, J.M.
DOI: 10.1016/S0887-8994(02)00403-4
2002

Evaluation of clinical diagnostic criteria for neurofibromatosis 2
Neurology
Baser, M.E. and Friedman, J.M. and Wallace, A.J. and Ramsden, R.T. and Joe, H. and Evans, D.G.R.
DOI: 10.1212/01.WNL.0000035638.74084.F4
2002

Mortality in Neurofibromatosis 1: An Analysis Using U.S. Death Certificates
The American Journal of Human Genetics
Sonja A. Rasmussen and Quanhe Yang and J.M. Friedman
DOI: 10.1086/320121
05/2001

Maternal gene effect in neurofibromatosis 2: Fact or artefact? [4]
Journal of Medical Genetics
Baser, M.E. and Friedman, J.M. and Evans, D.G.R.
2001

Renal-coloboma syndrome: Prenatal detection and clinical spectrum in a large family
American Journal of Medical Genetics
Bryce Ford and Rosemarie Rupps and David Lirenman and Margot I. Van Allen and Duncan Farquharson and Christopher Lyons and J.M. Friedman
DOI: 10.1002/1096-8628(2000)9999:9993.0.co;2-f
2001

Cardiac findings in an individual with neurofibromatosis 1 and sudden death
American Journal of Medical Genetics
Sara J. Hamilton and Michael F. Allard and J.M. Friedman
DOI: 10.1002/1096-8628(20010422)100:23.0.co;2-t
2001

Insights into the pathogenesis of neurofibromatosis 1 vasculopathy
Clinical Genetics
SJ Hamilton and JM Friedman
DOI: 10.1034/j.1399-0004.2000.580501.x
2001

Do geneticists need Babel fish?
Genetics in Medicine
Friedman, J.M.
DOI: 10.1097/00125817-200107000-00001
2001

Renal-coloboma syndrome: Prenatal detection and clinical spectrum in a large family
American Journal of Medical Genetics
Ford, B. and Rupps, R. and Lirenman, D. and Van Allen, M.I. and Farquharson, D. and Lyons, C. and Friedman, J.M.
DOI: 10.1002/1096-8628(2000)9999:9993.0.CO;2-F
2001

Kabuki syndrome in a Haitian patient [2]
American Journal of Medical Genetics
Hamilton, S.J. and Allard, M.F. and Friedman, J.M.
DOI: 10.1002/1096-8628(20010422)100:23.0.CO;2-N
2001

Use of "unidentified bright objects" on MRI for diagnosis of neurofibromatosis 1 in children
Neurology
R. G. Curless and J. M. Friedman and J. Szudek
DOI: 10.1212/wnl.55.7.1067-a
10/2000

Growth charts for young children with neurofibromatosis 1 (NF1)
American Journal of Medical Genetics
Jacek Szudek and Patricia Birch and Jan M. Friedman
DOI: 10.1002/(sici)1096-8628(20000529)92:33.0.co;2-j
05/2000

BRCA1 and BRCA2 Mutation Analysis of 208 Ashkenazi Jewish Women with Ovarian Cancer
The American Journal of Human Genetics
Roxana Moslehi and William Chu and Beth Karlan and David Fishman and Harvey Risch and Abbie Fields and David Smotkin and Yehuda Ben-David and Jacalyn Rosenblatt and Donna Russo and Peter Schwartz and Nadine Tung and Ellen Warner and Barry Rosen and Jan Friedman and Jean-Sébastien Brunet and Steven A. Narod
DOI: 10.1086/302853
04/2000

Use of the National Institutes of Health Criteria for Diagnosis of Neurofibromatosis 1 in Children
Pediatrics
Kimberly DeBella and Jacek Szudek and Jan Marshall Friedman
DOI: 10.1542/peds.105.3.608
03/2000

NF1 Gene and Neurofibromatosis 1
American Journal of Epidemiology
S. A. Rasmussen and J. M. Friedman
DOI: 10.1093/oxfordjournals.aje.a010118
01/2000

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1
American Journal of Medical Genetics
Lin, A.E. and Birch, P.H. and Korf, B.R. and Tenconi, R. and Niimura, M. and Poyhonen, M. and Uhas, K.A. and Sigorini, M. and Virdis, R. and Romano, C. and Bonioli, E. and Wolkenstein, P. and Pivnick, E.K. and Lawrence, M. and Friedman, J.M.
DOI: 10.1002/1096-8628(20001113)95:23.0.CO;2-0
2000

Associations of clinical features in neurofibromatosis 1 (NF1)
Genetic Epidemiology
Szudek, J. and Birch, P. and Riccardi, V.M. and Evans, D.G. and Friedman, J.M.
DOI: 10.1002/1098-2272(200012)19:43.0.CO;2-N
2000

Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line
American Journal of Medical Genetics
Bru?re, H. and Rupps, R. and Kuchinka, B.D. and Friedman, J.M. and Robinson, W.P.
DOI: 10.1002/1096-8628(20000904)94:13.0.CO;2-9
2000

Growth charts for young children with neurofibromatosis 1 (NF1) (multiple letters)
American Journal of Medical Genetics
Szudek, J. and Birch, P. and Friedman, J.M.
DOI: 10.1002/(SICI)1096-8628(20000529)92:33.0.CO;2-J
2000

Use of 'unidentified bright objects' on MRI for diagnosis of neurofibromatosis 1 in children
Neurology
DeBella, K. and Poskitt, K. and Szudek, J. and Friedman, J.M.
2000

Use of 'unidentified bright objects' on MRI for diagnosis of neurofibromatosis 1 in children [3] (multiple letters)
Neurology
Friedman, J.M. and Szudek, J.
2000

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1
American Journal of Medical Genetics
Angela E. Lin and Patricia H. Birch and Bruce R. Korf and Romano Tenconi and Michihito Niimura and Minna Poyhonen and Kim Armfield Uhas and Mauro Sigorini and Raffaele Virdis and Corrado Romano and Eugenio Bonioli and Pierre Wolkenstein and Eniko K. Pivnick and Marcella Lawrence and J.M. Friedman and the NNFF International Database Participants
DOI: 10.1002/1096-8628(20001113)95:23.0.co;2-0
2000

Growth in North American white children with neurofibromatosis 1 (NF1)
Journal of Medical Genetics
J Szudek
DOI: 10.1136/jmg.37.12.933
2000

Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line
American Journal of Medical Genetics
H¿l¿ne Bruy¿re and Rosemarie Rupps and Brian D. Kuchinka and Jan M. Friedman and Wendy P. Robinson
DOI: 10.1002/1096-8628(20000904)94:13.0.co;2-9
2000

Associations of clinical features in neurofibromatosis 1 (NF1)
Genetic Epidemiology
J. Szudek and P. Birch and V.M. Riccardi and D.G. Evans and J.M. Friedman
DOI: 10.1002/1098-2272(200012)19:43.0.co;2-n
2000

Teratology society: Presentation to the FDA public meeting on safety issues associated with the use of dietary supplements during pregnancy
Teratology
Friedman, J.M.
DOI: 10.1002/1096-9926(200008)62:23.0.CO;2-D
2000

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1
American Journal of Medical Genetics
David A. Stevenson and Patricia H. Birch and J.M. Friedman and David H. Viskochil and Paolo Balestrazzi and Stefania Boni and Annegret Buske and Bruce R. Korf and Michihito Niimura and Eniko K. Pivnick and Elizabeth K. Schorry and M. Priscilla Short and Romano Tenconi and James H. Tonsgard and John C. Carey
DOI: 10.1002/(sici)1096-8628(19990611)84:53.0.co;2-1
06/1999

Association of superficial plexiform and paraspinal neurofibromas in neurofibromatosis 1 (NF1)
Neurology
M. E. Baser and P. H. Birch and D. G. R. Evans and J. M. Friedman and J. H. Tonsgard
DOI: 10.1212/wnl.52.7.1517-d
04/1999

Epidemiology of neurofibromatosis type 1
American Journal of Medical Genetics
J.M. Friedman
DOI: 10.1002/(sici)1096-8628(19990326)89:13.3.co;2-#
03/1999

Association of superficial plexiform and paraspinal neurofibromas in neurofibromatosis 1 (NF1) [5] (multiple letters)
Neurology
Baser, M.E. and Birch, P.H. and Evans, D.G.R. and Friedman, J.M. and Tonsgard, J.H.
1999

Duty to re-contact: A study of families at risk for fragile X
Genetic Counseling
DOI: 10.1023/A:1022878402764
1999

Clinical teratology: identifying teratogenic risks in humans
Clinical Genetics
Janine E Polifka and Jm Friedman
DOI: 10.1034/j.1399-0004.1999.560601.x
1999

Epidemiology of neurofibromatosis type 1
American Journal of Medical Genetics - Seminars in Medical Genetics
Friedman, J.M.
DOI: 10.1002/(SICI)1096-8628(19990326)89:13.0.CO;2-8
1999

Teratology Society 1998 Public Affairs Committee Symposium, San Diego, California, USA, 21 June 1998: The new thalidomide era: Dealing with the risks
Teratology
Friedman, J.M. and Kimmel, C.A. and Brinkrant, D. and Williams, B. and Fost, N. and Warren, R.
DOI: 10.1002/(sici)1096-9926(199902)59:23.3.co;2-o
1999

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1
American Journal of Medical Genetics
Stevenson, D.A. and Birch, P.H. and Friedman, J.M. and Viskochil, D.H. and Balestrazzi, P. and Boni, S. and Buske, A. and Korf, B.R. and Niimura, M. and Pivnick, E.K. and Schorry, E.K. and Short, M.P. and Tenconi, R. and Tonsgard, J.H. and Carey, J.C.
DOI: 10.1002/(SICI)1096-8628(19990611)84:53.0.CO;2-1
1999

Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree
American Journal of Medical Genetics
Roxana Moslehi and Sylvie Langlois and Irene Yam and J.M. Friedman
DOI: 10.1002/(sici)1096-8628(19980226)76:13.0.co;2-s
02/1998

One Fewer Worry for Survivors of Childhood Cancer
The American Journal of Human Genetics
J.M. Friedman
DOI: 10.1086/301693
01/1998

Metabolism of fatty acids and glucose [2] (multiple letters)
Circulation
Kessler, G. and Friedman, J. and Apstein, C.S. and Taegtmeyer, H.
1998

Clinical objectives in medical genetics for undergraduate medical students
Genetics in Medicine
DOI: 10.1097/00125817-199811000-00013
1998

Genetics in Medicine and informatics for the genetic clinician
Genetics in Medicine
Jan M Friedman
DOI: 10.1097/00125817-199811000-00011
1998

Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree
American Journal of Medical Genetics
Moslehi, R. and Langlois, S. and Yam, I. and Friedman, J.M.
DOI: 10.1002/(SICI)1096-8628(19980226)76:13.0.CO;2-S
1998

Association of professors of human or medical genetics: Second annual workshop summary
American Journal of Medical Genetics
J. M. Friedman
DOI: 10.1002/(sici)1096-8628(19971017)72:23.0.co;2-i
10/1997

Teratology society consensus statement on use of folic acid to reduce the risk of birth defects
Teratology
DOI: 10.1002/(sici)1096-9926(199706)55:63.3.co;2-3
06/1997

Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1,728 patients
American Journal of Medical Genetics
J. M. Friedman and Patricia H. Birch
DOI: 10.1002/(sici)1096-8628(19970516)70:23.0.co;2-u
05/1997

An Association Between Optic Glioma and Other Tumours of the Central Nervous System in Neurofibromatosis Type 1
Neuropediatrics
J. Friedman and P. Birch
DOI: 10.1055/s-2007-973687
04/1997

Genetics and epidemiology, congenital anomalies and cancer
American Journal of Human Genetics
PubMed: PMC1712517
03/1997

Teratology society consensus statement on use of folic acid to reduce the risk of birth defects
Teratology
Holmes, L. and Harris, J. and Oakley G.P., Jr. and Friedman, J.M.
DOI: 10.1002/(SICI)1096-9926(199706)55:63.0.CO;2-0
1997

Genetics and epidemiology, congenital anomalies and cancer
American Journal of Human Genetics
Friedman, J.M.
1997

Chromosome abnormalities in human beings
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
Deborah E McFadden and J.M Friedman
DOI: 10.1016/s0027-5107(97)00179-6
1997

Chromosome abnormalities in human beings
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
McFadden, D.E. and Friedman, J.M.
DOI: 10.1016/S0027-5107(97)00179-6
1997

Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1,728 patients
American Journal of Medical Genetics
Friedman, J.M. and Birch, P.H.
DOI: 10.1002/(SICI)1096-8628(19970516)70:23.0.CO;2-U
1997

Association of professors of human or medical genetics: Second annual workshop summary
American Journal of Medical Genetics
Friedman, J.M.
DOI: 10.1002/(SICI)1096-8628(19971017)72:23.0.CO;2-I
1997

Association of professors of human or medical genetics: Summary of first annual workshop
American Journal of Medical Genetics
J.M. Friedman
DOI: 10.1002/(sici)1096-8628(19961028)65:33.0.co;2-p
10/1996

Clinical teratology counseling and consultation report: High dose ß-carotene use during early pregnancy
Teratology
Janine E. Polifka and Cynthia R. Dolan and Michael A. Donlan and J. M. Friedman
DOI: 10.1002/(sici)1096-9926(199606)54:23.0.co;2-5
06/1996

Clinical teratology counseling and consultation report: High dose ß-carotene use during early pregnancy
Teratology
Polifka, J.E. and Dolan, C.R. and Donlan, M.A. and Friedman, J.M.
DOI: 10.1002/(SICI)1096-9926(199606)54:23.0.CO;2-5
1996

Aneuploidy in germ cells: Etiologies and risk factors
Environmental and Molecular Mutagenesis
Jack B. Bishop and Vicki L. Dellarco and Terry Hassold and Lynnette R. Ferguson and Andrew J. Wyrobek and J.M. Friedman
DOI: 10.1002/(sici)1098-2280(1996)28:33.3.co;2-z
1996

Therapeutic teratology: The 1996 teratology society public affairs symposium
Teratology
DOI: 10.1002/(sici)1096-9926(199612)54:63.0.co;2-z
1996

Aneuploidy in germ cells: Etiologies and risk factors
Environmental and Molecular Mutagenesis
DOI: 10.1002/(SICI)1098-2280(1996)28:33.0.CO;2-9
1996

Association of professors of human or medical genetics: Summary of first annual workshop
American Journal of Medical Genetics
Friedman, J.M.
DOI: 10.1002/(SICI)1096-8628(19961028)65:33.0.CO;2-P
1996

Report from the ASHG Information and Education Committee: Medical school core curriculum in genetics
American Journal of Human Genetics
Friedman, J.M. and Blitzer, M.G. and Davidson, R. and Elsas, L. and Fine, B.A. and Grant, J. and Gregory, P. and McInerney, J.D. and Moore, C.M. and Pagon, R.A.
1995

Medical school core curriculum in genetics [6]
American Journal of Human Genetics
Hayflick, S.J. and Friedman, J.M.
1995

Occurrence Of Chickenpox During Pregnancy In Women Seropositive For Varicella-Zoster Virus
Journal of Infectious Diseases
K. A. Martin and A. K. Junker and E. E. Thomas and M. I. Van Allen and J. M. Friedman
DOI: 10.1093/infdis/170.4.991
10/1994

FDA classification of drugs for teratogenic risk: Teratology society public affairs committee
Teratology
DOI: 10.1002/tera.1420490603
06/1994

A reevaluation of risk of in utero exposure to lithium
JAMA: The Journal of the American Medical Association
L. S. Cohen
DOI: 10.1001/jama.271.2.146
01/1994

A Reevaluation of Risk of In Utero Exposure to Lithium
JAMA: The Journal of the American Medical Association
Cohen, L.S. and Friedman, J.M. and Jefferson, J.W. and Johnson, E.M. and Weiner, M.L.
DOI: 10.1001/jama.1994.03510260078033
1994

Idiopathic fibrosing pancreatitis causing obstructive jaundice in young adults: Two case reports and literature review
American Journal of Gastroenterology
Barkin, J.S. and Stollman, N. and Friedman, J. and Willis, I. and Robbins, E.
1994

Physician and Patient Education
Male-Mediated Developmental Toxicity
DOI: 10.1007/978-1-4615-1877-8_24
1994

Recommendations on the use of folic acid supplementation to prevent the recurrence of neural tube defects
Canadian Medical Association Journal
11/1993

Evidence for multi-site closure of the neural tube in humans
American Journal of Medical Genetics
Margot I. Van Allen and Dagmar K. Kalousek and Gerold F. Chernoff and Diana Juriloff and Muriel Harris and Barbara C. McGillivray and Siu-Li Yong and Sylvie Langlois and Patrick M. Macleod and David Chitayat and Jan M. Friedman and R. Doug Wilson and Deborah McFadden and J. Pantzar and Susan Ritchie and Judith G. Hall
DOI: 10.1002/ajmg.1320470528
10/1993

Cardio-facio-cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7
American Journal of Medical Genetics
E. Lopez-Rangel and M. Hrynchak and J. M. Friedman
DOI: 10.1002/ajmg.1320470306
09/1993

Report of the Teratology Society Public Affairs Committee symposium on FDA classification of drugs
Teratology
J. M. Friedman
DOI: 10.1002/tera.1420480103
07/1993

Pattern of cardiac malformation in oculoauriculovertebral spectrum
American Journal of Medical Genetics
Anil Kumar and J. M. Friedman and Glenn P. Taylor and Michael W. H. Patterson
DOI: 10.1002/ajmg.1320460415
06/1993

National Neurofibromatosis Foundation International Database
American Journal of Medical Genetics
J. M. Friedman and Patricia Birch and Carol Greene and NNFF International Database Participants
DOI: 10.1002/ajmg.1320450121
01/1993

Recommendations on the use of folic acid supplementation to prevent the recurrence of neural tube defects
CMAJ
Van Allen, M.I. and Fraser, F.C. and Dallaire, L. and Allanson, J. and McLeod, D.R. and Andermann, E. and Friedman, J.M.
1993

Complementary duplication and deletion of 17 (pcen¿p11.2): A family with a supernumerary chromosome comprised of an interstitially deleted segment
American Journal of Medical Genetics
J. M. Friedman and M. J. E. Harrod and P. N. Howard-Peebles
DOI: 10.1002/ajmg.1320440109
09/1992

The gene responsible for X-linked cleft palate (CPX) in a British Columbia Native kindred is localized between PGK1 and DXYS1
American Journal of Human Genetics
PubMed: PMC1682621
05/1992

The use of dysmorphology in birth defects epidemiology
Teratology
J. M. Friedman
DOI: 10.1002/tera.1420450212
02/1992

Williams syndrome in adults
American Journal of Medical Genetics
Lopez-Rangel, E. and Maurice, M. and McGillivray, B. and Friedman, J.M.
DOI: 10.1002/ajmg.1320440605
1992

The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGKI and DXYSI
American Journal of Human Genetics
1992

Effects of drugs and other chemicals on fetal growth
Growth, Genetics and Hormones
1992

Teratogenic effects of "recreational" drugs
Canadian Family Physician
PubMed: PMC2145913
09/1991

Life-Threatening Status Asthmaticus at 12.5 Weeks’ Gestation
Chest
Dawna M. Gilchrist and Jan M. Friedman and Denise Werker
DOI: 10.1378/chest.100.1.285
07/1991

Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: New entity or variant of Walker-Warburg syndrome?
American Journal of Medical Genetics
David S. Wargowski and David Chitayat and R. Wes Tyson and Margaret G. Norman and J. M. Friedman
DOI: 10.1002/ajmg.1320390106
04/1991

Potential human teratogenicity of frequently prescribed drugs
International Journal of Gynecology & Obstetrics
JM Friedman and BB Little and RL Brent and JF Cordero and JW Hanson and TH Shepard
DOI: 10.1016/0020-7292(91)90546-h
01/1991

Congenital cataracts in mother, sister, and son of a patient with Hallermann-Streiff syndrome: Coincidence or clue?
American Journal of Medical Genetics
Harrod, M.J. and Friedman, J.M.
DOI: 10.1002/ajmg.1320410424
1991

Eugenics and the 'new genetics'
Perspectives in Biology and Medicine
Friedman, J.M.
DOI: 10.1353/pbm.1991.0001
1991

ASHG/NSGC activities related to education: Workshop on human genetics education
American Journal of Human Genetics
Friedman, J.M. and Blitzer, M.
1991

Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome
American Journal of Medical Genetics
David Chitayat and Avi Rothchild and Emily Ling and J. M. Friedman and Robert M. Couch and Siu-Li Yong and Virginia J. Baldwin and Judith G. Hall
DOI: 10.1002/ajmg.1320360412
08/1990

Maternal serum a-fetoprotein in pregnancy
American Journal of Obstetrics and Gynecology
DOI: 10.1016/0002-9378(90)91252-8
08/1990

Interpreting chromosomal abnormalities using Prolog
Computers and Biomedical Research
Glen Cooper and J.M. Friedman
DOI: 10.1016/0010-4809(90)90014-4
04/1990

Neuroblastoma in a child with Wiedemann-Beckwith syndrome
American Journal of Medical Genetics
David Chitayat and J. M. Friedman and James E. Dimmick
DOI: 10.1002/ajmg.1320350322
03/1990

Myelodysplasia and leukemia syndrome with monosomy 7: A genetic perspective
American Journal of Medical Genetics
D. M. Gilchrist and J. M. Friedman and P. C. J. Rogers and S. P. Creighton
DOI: 10.1002/ajmg.1320350323
03/1990

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences
American Journal of Medical Genetics
R. E. Magenis and S. Toth-Fejel and L. J. Allen and M. Black and M. G. Brown and S. Budden and R. Cohen and J. M. Friedman and D. Kalousek and J. Zonana and D. Lacy and S. Lafranchi and M. Lahr and J. Macfarlane and C. P. S. Williams
DOI: 10.1002/ajmg.1320350307
03/1990

Mild phenotypic abnormalities in combined del 9p2 and dup 3p2
American Journal of Medical Genetics
K. Game and J. M. Friedman and D. K. Kalousek
DOI: 10.1002/ajmg.1320350311
03/1990

Hypomelanosis of Ito—a nonspecific marker of somatic mosaicism: Report of case with trisomy 18 mosaicism
American Journal of Medical Genetics
David Chitayat and J. M. Friedman and Margaret M. Johnston
DOI: 10.1002/ajmg.1320350320
03/1990

Potential human teratogenicity of frequently prescribed drugs
Obstetrics and Gynecology
Friedman, J.M. and Little, B.B. and Brent, R.L. and Cordero, J.F. and Hanson, J.W. and Shepard, T.H.
1990

A practical approach to dysmorphology.
Pediatric annals
Friedman, J.M.
DOI: 10.3928/0090-4481-19900201-07
1990

Analysing rearrangement breakpoint distributions by means of binomial confidence intervals
Annals of Human Genetics
K. VASARHELYI and J.M. FRIEDMAN
DOI: 10.1111/j.1469-1809.1989.tb01805.x
10/1989

Fetal growth retardation, hydrocephalus, hypoplastic multilobed lungs, and other anomalies in 4 sibs
American Journal of Medical Genetics
K. Game and J. M. Friedman and B. Paradice and M. G. Norman
DOI: 10.1002/ajmg.1320330226
06/1989

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome
American Journal of Medical Genetics
J. Stephen Bamforth and Claire O. Leonard and Bernard N. Chodirker and David Chitayat and Hilda L. Gritter and Jane A. Evans and Beth Keena and Tapio Pantzar and Jan M. Friedman and Judith G. Hall and John M. Opitz and James F. Reynolds
DOI: 10.1002/ajmg.1320320120
01/1989

Teratogenesis and IV cyclophosphamide
Journal of Rheumatology
Gilchrist, D.M. and Friedman, J.M. and Kirshon, B.
1989

Encephalocraniocutaneous lipomatosis: Two case reports and a review of the literature
Neurofibromatosis
PubMed: 2699567
1989

Teratogens and IV cyclophosphamide
Journal of Rheumatology
1989

Clinical, genetic and epidemiological factors in neural tube defects
American Journal of Human Genetics
PubMed: PMC1715625
12/1988

Biochemical abnormalities in rhizomelic chondrodysplasia punctata
The Journal of Pediatrics
Gerald Hoefler and Sigrid Hoefler and Paul A. Watkins and Winston W. Chen and Ann Moser and Virginia Baldwin and B. McGillivary and Joel Charrow and J.M. Friedman and Lane Rutledge and Takashi Hashimoto and Hugo W. Moser
DOI: 10.1016/s0022-3476(88)80689-9
05/1988

Anesthetic agents
Teratology
J. M. Friedman
DOI: 10.1002/tera.1420370111
01/1988

Hepatocellular carcinoma in a child with familial Russell-Silver syndrome
American Journal of Medical Genetics
Chitayat, D. and Friedman, J.M. and Anderson, L. and Dimmick, J.E.
DOI: 10.1002/ajmg.1320310425
1988

Clinical, genetic, and epidemiological factors in neural tube defects
American Journal of Human Genetics
Hall, J.G. and Friedman, J.M. and Kenna, B.A. and Popkin, J. and Jawanda, M. and Arnold, W.
1988

Biochemical abnormalities in rhizomelic chondrodysplasia punctata
The Journal of Pediatrics
Hoefler, G. and Hoefler, S. and Watkins, P.A. and Chen, W.W. and Moser, A. and Baldwin, V. and McGillivary, B. and Charrow, J. and Friedman, J.M. and Rutledge, L. and Hashimoto, T. and Moser, H.W.
DOI: 10.1016/S0022-3476(88)80689-9
1988

Fetal karyotype following ascertainment of fetal anomalies by ultrasound
Prenatal Diagnosis
Catherine G. Palmer and Judith H. Miles and Patricia N. Howard-Peebles and R. Ellen Magenis and Shivanand Patil and Jan M. Friedman
DOI: 10.1002/pd.1970070804
10/1987

ReCAP: The registry of cytogenetic abnormalities and phenylketonuria
American Journal of Medical Genetics
J. M. Friedman and Janet P. Smith and Barbara N. Lerner and Jean S. Helgeson and Patricia N. Howard-Peebles and Charles E. Mize and Susan G. Mize and William L. Singleton and M. Eileen Smith and John M. Opitz and James F. Reynolds
DOI: 10.1002/ajmg.1320270211
06/1987

Teratogens and growth
Growth, Genetics and Hormones
1987

PREVALENCE OF COXSACKIE B VIRUS ANTIBODIES IN PATIENTS WITH JUVENILE DERMATOMYOSITIS
Arthritis & Rheumatism
MARY L. Christensen and Lauren M. Pachman and Richard Schneiderman and Devendrakumar C. Patel and Jan M. Friedman
DOI: 10.1002/art.1780291109
11/1986

Severe craniofacial sclerosis with multiple anomalies in a boy and his mother
Pediatric Radiology
G. Currarino and J. M. Friedman
DOI: 10.1007/bf02387953
09/1986

Del(20p) with manifestations of arteriohepatic dysplasia
American Journal of Medical Genetics
J. L. B. Byrne and M. J. E. Harrod and J. M. Friedman and P. N. Howard-Peebles and John M. Opitz and James F. Reynolds
DOI: 10.1002/ajmg.1320240411
08/1986

Anatomic correlates of ultrasonographic prenatal diagnosis
Prenatal Diagnosis
Joe C. Rutledge and Arthur G. Weinberg and Jan M. Friedman and Mary Jo Harrod and Rigoberto Santos-Ramos
DOI: 10.1002/pd.1970060108
01/1986

Inheritance of fragile X syndrome: An hypothesis
American Journal of Medical Genetics
J. M. Friedman and Patricia N. Howard-Peebles and John M. Opitz and James F. Reynolds
DOI: 10.1002/ajmg.1320230161
01/1986

A severe form of congenital contractural arachnodactyly in two newborn infants
American Journal of Medical Genetics
Currarino, G. and Friedman, J.M.
DOI: 10.1002/ajmg.1320250414
1986

Severe craniofacial sclerosis with multiple anomalies in a boy and his mother
Pediatric Radiology
Currarino, G. and Friedman, J.M.
DOI: 10.1007/BF02387953
1986

Unaffected carrier males in families with fragile X syndrome
American Journal of Human Genetics
PubMed: PMC1684698
09/1985

Wolf-hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation
American Journal of Medical Genetics
Kristine Bauer and Patricia N. Howard-Peebles and Doman Keele and J. M. Friedman and John M. Opitz and James F. Reynolds
DOI: 10.1002/ajmg.1320210218
06/1985

Immunogenetic studies of juvenile dermatomyositis. III. Study of antibody to organ-specific and nuclear antigens
Arthritis & Rheumatism
Lauren M. Pachman and Jan M. Friedman and Mona L. Maryjowski-Sweeney and Olga Jonnason and Ruta M. Radvany and Gordon C. Sharp and Mike A. Cobb and Norma D. Battles and William E. Crowe and Chester W. Fink and Virgil Hanson and Joseph E. Levinson and Charles H. Spencer and Donita B. Sullivan
DOI: 10.1002/art.1780280208
02/1985

Unaffected carrier males in families with fragile X syndrome
American Journal of Human Genetics
Howard-Peebles, P.N. and Friedman, J.M.
1985

Neonatal alloimmune thrombocytopenic purpura and congenital porencephaly in two siblings associated with a "new" maternal antiplatelet antibody
Blood
1985

Neonatal alloimmune thrombocytopenic purpura and congenital porencephaly in two siblings associated with a 'new' maternal antiplatelet antibody
Blood
Friedman, J.M. and Aster, R.H.
DOI: 10.1182/blood.v65.6.1412.bloodjournal6561412
1985

REGISTRY OF CYTOGENETIC ABNORMALITIES AND PHENYLKETONURIA (RECAP) SYSTEM DESCRIPTION AND DATA INTEGRITY.
Proceedings - Annual Symposium on Computer Applications in Medical Care
Mize, Susan G. and Friedman, J.M. and Howard-Peebles, Patricia N. and Lerner, Barbara and Mize, Charles E. and Smith, Janet P.
1985

A “new” lethal multiple congenital anomaly syndrome: Joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations
American Journal of Medical Genetics
Joe C. Rutledge and J. M. Friedman and M. J. E. Harrod and G. Currarino and C. G. Wright and L. Pinckney and H. Chen
DOI: 10.1002/ajmg.1320190208
10/1984

Etiologic heterogeneity of fetal hydrocephalus diagnosed by ultrasound
American Journal of Obstetrics and Gynecology
M.J.E. Harrod and J.M. Friedman and R. Santos-Ramos and J. Rutledge and A. Weinberg
DOI: 10.1016/s0002-9378(84)80106-4
09/1984

Natural history of X-linked aqueductal stenosis in the second and third trimesters of pregnancy
American Journal of Obstetrics and Gynecology
J.M. Friedman and Rigoberto Santos-Ramos
DOI: 10.1016/s0002-9378(84)80123-4
09/1984

Genetic heterogeneity in spondyloepiphyseal dysplasia congenita
American Journal of Medical Genetics
Mary Jo E. Harrod and Jan M. Friedman and Guido Currarino and Richard M. Pauli and Leonard O. Langer and John M. Opitz
DOI: 10.1002/ajmg.1320180215
06/1984

Early prenatal ultrasonic findings in klippel—trenaunay—weber syndrome
Prenatal Diagnosis
Muhieddine Seoud and Rigoberto Santos-Ramos and J. M. Friedman
DOI: 10.1002/pd.1970040312
05/1984

Does agent orange cause birth defects?
Teratology
J. M. Friedman
DOI: 10.1002/tera.1420290208
04/1984

Etiologic heterogeneity of fetal hydrocephalus diagnosed by ultrasound
American Journal of Obstetrics and Gynecology
Harrod, M.J.E. and Friedman, J.M. and Santos-Ramos, R. and Rutledge, J. and Weinberg, A.
DOI: 10.1016/S0002-9378(84)80106-4
1984

Natural history of X-linked aqueductal stenosis in the second and third trimesters of pregnancy
American Journal of Obstetrics and Gynecology
Friedman, J.M. and Santos-Ramos, R.
DOI: 10.1016/S0002-9378(84)80123-4
1984

Immunogenetic studies of juvenile dermatomyositis: hla-dr antigen frequencies
Arthritis & Rheumatism
J. M. Friedman and L. M. Pachman and M. L. Maryjowski and R. M. Radvany and W. E. Crowe and V. Hanson and J. E. Levinson and C. H. Spencer
DOI: 10.1002/art.1780260216
02/1983

Can maternal alcohol ingestion cause neural tube defects?
The Journal of Pediatrics
J.M. Friedman
DOI: 10.1016/s0022-3476(82)80129-7
08/1982

Genetic Misconceptions
Southern Medical Journal
J. M. FRIEDMAN and MARY JO E. HARROD
DOI: 10.1097/00007611-198201000-00013
01/1982

Probable clonal origin of neurofibrosarcoma in a patient with hereditary neurofibromatosis
Journal of the National Cancer Institute
Friedman, J.M. and Fialkow, P.J. and Greene, C.L. and Weinberg, M.N.
1982

Prenatal diagnosis of birth defects and the "right to life"
Perinatology-Neonatology
1982

Probable Clonal Origin of Neurofibrosarcoma in a Patient With Hereditary Neurofibromatosis23
JNCI: Journal of the National Cancer Institute
DOI: 10.1093/jnci/69.6.1289
1982

Hemifacial microsomia in cri-du-chat (5p-) syndrome
Journal of Craniofacial Genetics and Developmental Biology
PubMed: 7183708
1982

Can maternal alcohol ingestion cause neural tube defects?
The Journal of Pediatrics
Friedman, J.M.
DOI: 10.1016/S0022-3476(82)80129-7
1982

Hemifacial microsomia in cri du chat (5p-) syndrome
Journal of Craniofacial Genetics and Developmental Biology
Neu, K.W. and Friedman, J.M. and Howard Peebles, P.N.
1982

Genetic disease in the offspring of "older" fathers
Obstetrics & Gynecology
PubMed: 7231827
06/1981

Genetic disease in the offspring of older fathers
Obstetrics and Gynecology
Friedman, J.M.
1981

The genetics of diabetes mellitus.
Progress in medical genetics
Friedman, J.M. and Fialkow, P.J.
1980

The genetics of diabetes mellitus
Progress in Medical Genetics
PubMed: 7003655
1980

Acute Nonlymphocytic Leukemia
New England Journal of Medicine
Philip J. Fialkow and Jack W. Singer and John W. Adamson and Roger L. Berkow and Jan M. Friedman and Robert J. Jacobson and John W. Moohr
DOI: 10.1056/nejm197907053010101
07/1979

Rapidly adhering amniotic-fluid cells and prenatal diagnosis of neural tube defects
The Lancet
DOI: 10.1016/s0140-6736(79)90150-8
07/1979

Acute Nonlymphocytic Leukemia: Expression in Cells Restricted to Granulocytic and Monocytic Differentiation
New England Journal of Medicine
Fialkow, P.J. and Singer, J.W. and Adamson, J.W. and Berkow, R.L. and Friedman, J.M. and Jacobson, R.J. and Moohr, J.W.
DOI: 10.1056/NEJM197907053010101
1979

RAPIDLY ADHERING AMNIOTIC-FLUID CELLS AND PRENATAL DIAGNOSIS OF NEURAL-TUBE DEFECTS
The Lancet
Harrod, M.J.E. and Friedman, J.M. and Jimenez, J. and Santos-Ramos, R. and Byrne, J.B. and Dev, V.G. and Weinberg, A.G.
DOI: 10.1016/S0140-6736(79)90150-8
1979

Neoplastic behavior of chromosomally abnormal clones in New Zealand black mice
International Journal of Cancer
J. M. Friedman and Philip J. Fialkow and Jean Bryant and A. L. Reddy and Armi C. Salo
DOI: 10.1002/ijc.2910220415
10/1978

Longitudinal studies of chromosomal abnomalities and reticulum cell proliferation in new zealand black mice
International Journal of Cancer
J. M. Friedman and Philip J. Fialkow and June East and Jean I. Bryant and Armi C. Salo
DOI: 10.1002/ijc.2910220414
10/1978

Studies of the HLA Complex in Families of Children with Congenital Heart Disease
Tissue Antigens
J. M. Friedman and M. H. Paul
DOI: 10.1111/j.1399-0039.1978.tb01288.x
05/1978

Specificity of acquired clonal chromosome abnormalities in new zealand black mice
International Journal of Cancer
Philip J. Fialkow and Jean I. Bryant and Jan M. Friedman
DOI: 10.1002/ijc.2910210417
04/1978

The genetics of Graves' disease
Clinics in Endocrinology and Metabolism
J.M. Friedman and Philip J. Fialkow
DOI: 10.1016/s0300-595x(78)80035-8
03/1978

The genetics of Graves' disease
Clinics in Endocrinology and Metabolism
DOI: 10.1016/S0300-595X(78)80035-8
1978

HLA-B8 IN JUVENILE DERMATOMYOSITIS
The Lancet
LaurenM Pachman and Olga Jonasson and RobertA Cannon and J.M Friedman
DOI: 10.1016/s0140-6736(77)90716-4
09/1977

Autoimmunity in the relatives of patients with immunodeficiency diseases
Clinical & Experimental Immunology
PubMed: PMC1541009
06/1977

Autoimmunity in the relatives of patients with immunodeficiency diseases
Clinical and Experimental Immunology
Friedman, J.M. and Fialkow, P.J. and Davis, S.D. and Ochs, H.D. and Wedgwood, R.J.
1977

Saethre-Chotzen syndrome: A broad and variable pattern of skeletal malformations
The Journal of Pediatrics
J.M. Friedman and James W. Hanson and C Benjamin Graham and David W. Smith
DOI: 10.1016/s0022-3476(77)80892-5
1977

Saethre-Chotzen syndrome: A broad and variable pattern of skeletal malformations
The Journal of Pediatrics
Friedman, J.M. and Hanson, J.W. and Graham, C.B. and Smith, D.W.
DOI: 10.1016/S0022-3476(77)80892-5
1977

HLA-B8 IN JUVENILE DERMATOMYOSITIS
The Lancet
Pachman, L. and Jonasson, O. and Cannon, R. and Friedman, J.M.
DOI: 10.1016/S0140-6736(77)90716-4
1977

INCREASED FREQUENCY OF HLA-B8 IN JUVENILE DERMATOMYOSITIS
The Lancet
Pachman, L. and Jonasson, O. and Cannon, R. and Friedman, J.M.
DOI: 10.1016/S0140-6736(77)90487-1
1977

Saethre-Chotzen syndrome: a broad and variable malformation pattern
Birth Defects: Original Article Series
Friedman, J.M. and Hanson, J.W. and Smith, D.W.
1977

Cell Marker Studies of Human Tumorigenesis
Immunological Reviews
J. M. Friedman and Philip I. Fialkow
DOI: 10.1111/j.1600-065x.1976.tb00190.x
01/1976

Inheritance of susceptibility to histocompatibility associated disease
The Lancet
DOI: 10.1016/s0140-6736(76)92960-3
01/1976

Viral “Tumorigenesis” in man: Cell markers incondylomata acuminata
International Journal of Cancer
J. M. Friedman and Philip J. Fialkow
DOI: 10.1002/ijc.2910170109
01/1976

Carcinoma of the pancreas in four brothers
Birth Defects: Original Article Series
Friedman, J.M. and Fialkow, P.J.
1976

INHERITANCE OF SUSCEPTIBILITY TO HISTOCOMPATIBILITY-ASSOCIATED DISEASE
The Lancet
Friedman, J.M.
DOI: 10.1016/S0140-6736(76)92960-3
1976

Cell Marker Studies of Human Tumorigenesis
Immunological Reviews
Friedman, J.M. and Fialkow, P.I.
DOI: 10.1111/j.1600-065X.1976.tb00190.x
1976

Controlled family studies of immunodeficiency and autoimmunity
EXCERPTA MED.,AMSTERDAM,I.C.S.
Friedman, J.M. and Fialkow, P.J. and Davis, S.D.
1976

Jeune syndrome in an adult
Birth Defects: Original Article Series
Friedman, J.M. and Kaplan, H. and Hall, J.G.
1975

The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult
The American Journal of Medicine
Friedman, J.M. and Kaplan, H.G. and Hall, J.G.
DOI: 10.1016/0002-9343(75)90472-6
1975

Trisomy-21 in mother and child: Report of a case
Obstetrics and gynecology
12/1970

Developmental Toxicology and Teratology
Protocols for High-Risk Pregnancies
James W. Hanson and Jan M. Friedman
DOI: 10.1002/9781444312904.ch2

Research

Current Project
Prescription medications are not tested for safety in human pregnancy before they are approved for marketing, and the passive adverse event reporting schemes required after regulatory approval have proven to be inefficient means of identifying maternal drug treatments that can harm the embryo or fetus. As a consequence, the average time required to recognize that a newly marketed drug can harm the developing embryo or fetus is more than 7 years, and the fetal risk or safety of more than 90% of prescription drugs approved for clinical use since 1980 is unknown. We are doing studies of various maternal treatments during pregnancy and birth defect risk in the children using data from a large US study in collaboration with the Centers for Disease Control and Prevention in Atlanta, GA.

Current Projects
People with neurofibromatosis 1 often develop large numbers of benign tumours throughout their bodies, and some of these tumours may become malignant. Debilitating skeletal abnormalities and a characteristic vascular disorder, which may cause stroke, heart disease, or death in early adulthood, may also occur. We are conducting clinical, epidemiological and laboratory studies of these and other manifestations of neurofibromatosis to determine their frequency, natural history, and pathogenesis in affected patients.

Current Project
For 50 years, we have known that chromosomal abnormalities, which produce gain or loss of genomic material, are a major cause of mental retardation. Recent studies have shown that mental retardation in some children is caused by genomic imbalance that is much too small to detect by conventional chromosomal analysis. We are using newly developed technologies such as array genomic hybridization and high-throughput DNA sequencing to identify, characterize and understand the clinical consequences of the genomic alterations that cause at least 25% of all mental retardation.

Honours & Awards

Fellow of the Canadian Academy of Health Sciences

2012 Distinguished Medical Research Lecturer Award, Faculty of Medicine, University of British Columbia

UBC Killam Teaching Award – Faculty of Medicine, 2010

Research Group Members

Shelin Adam, Investigator and Research Genetic Counsellor, BC Children's Hospital
Taghrid Aloraini, Graduate Research Assistant
Sura Alwan, Bilingual Arabic-speaking Research Coordinator
Patricia Birch, Investigator, Research Manager and Research Nurse, BC Children's Hospital
Iris Caglayan, Research Assistant
Colleen Guimond, Genetic Counsellor
Jessica Ha
Kyle Jenkins, Masters Student
Liza Mak, Administrative Coordinator
Jill Mwenifumbo, Genome Analyst
Jasmine Peng, Research Assistant
Lauren T Piers, Research Genetic Counsellor
Indhu Rajan Babu, Research Associate
Riya Saju, Graduate Research Assistant
Andrew Sherrard, PhD Student
Ada Tsui
Shanik Vij, Research Assistant