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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Genetic counseling research and COVID-19: A lesson in resiliency
Journal of Genetic Counseling
DOI: 10.1002/jgc4.1502
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

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

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

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

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

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

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

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

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

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

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

A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency
Human Molecular Genetics
Al-Shekaili, H.H. and Petkau, T.L. and Pena, I. and Lengyell, T.C. and Verhoeven-Duif, N.M. and Ciapaite, J. and Bosma, M. and Van Faassen, M. and Kema, I.P. and Horvath, G. and Ross, C. and Simpson, E.M. and Friedman, J.M. and Van Karnebeek, C. and Leavitt, B.R.
DOI: 10.1093/hmg/ddaa202
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

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
Nambot, S. and Faivre, L. and Mirzaa, G. and Thevenon, J. and Bruel, A.-L. and Mosca-Boidron, A.-L. and Masurel-Paulet, A. and Goldenberg, A. and Le Meur, N. and Charollais, A. and Mignot, C. and Petit, F. and Rossi, M. and Metreau, J. and Layet, V. and Amram, D. and Boute-Bénéjean, O. and Bhoj, E. and Cousin, M.A. and Kruisselbrink, T.M. and Lanpher, B.C. and Klee, E.W. and Fiala, E. and Grange, D.K. and Meschino, W.S. and Hiatt, S.M. and Cooper, G.M. and Olivié, H. and Smith, W.E. and Dumas, M. and Lehman, A. and Adam, S. and du Souich, C. and Elliott, A.M. and Mwenifumbo, J. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Inglese, C. and Nizon, M. and Guerrini, R. and Vetro, A. and Kaplan, E.S. and Miramar, D. and Van Gils, J. and Fergelot, P. and Bodamer, O. and Herkert, J.C. and Pajusalu, S. and Õunap, K. and Filiano, J.J. and Smol, T. and Piton, A. and Gérard, B. and Chantot-Bastaraud, S. and Bienvenu, T. and Li, D. and Juusola, J. and Devriendt, K. and Bilan, F. and Poé, C. and Chevarin, M. and Jouan, T. and Tisserant, E. and Rivière, J.-B. and Tran Mau-Them, F. and Philippe, C. and Duffourd, Y. and Dobyns, W.B. and Thauvin-Robinet, C. and Thauvin-Robinet, C.
DOI: 10.1038/s41431-020-0571-6
2020

The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review
Genetics in Medicine
Dragojlovic, N. and Borle, K. and Kopac, N. and Ellis, U. and Birch, P. and Adam, S. and Friedman, J.M. and Nisselle, A. and Elliott, A.M. and Lynd, L.D.
DOI: 10.1038/s41436-020-0825-2
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

Correction: The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review (Genetics in Medicine, (2020), 22, 9, (1437-1449), 10.1038/s41436-020-0825-2)
Genetics in Medicine
Dragojlovic, N. and Borle, K. and Kopac, N. and Ellis, U. and Birch, P. and Adam, S. and Friedman, J.M. and Nisselle, A. and Elliott, A.M. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Bansback, N. and Clarke, L. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.
DOI: 10.1038/s41436-020-0903-5
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

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, V.-F. and Koeppen, J. and Wenzel, R. and Friedman, J.M. and Salamon, J. and Farschtschi, S.
DOI: 10.1038/s41598-020-68489-y
2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Brain
Mak, C.C.Y. and Doherty, D. and Lin, A.E. and Vegas, N. and Cho, M.T. and Viot, G. and Dimartino, C. and Weisfeld-Adams, J.D. and Lessel, D. and Joss, S. and Li, C. and Gonzaga-Jauregui, C. and Zarate, Y.A. and Ehmke, N. and Horn, D. and Troyer, C. and Kant, S.G. and Lee, Y. and Ishak, G.E. and Leung, G. and Barone Pritchard, A. and Yang, S. and Bend, E.G. and Filippini, F. and Roadhouse, C. and Lebrun, N. and Mehaffey, M.G. and Martin, P.-M. and Apple, B. and Millan, F. and Puk, O. and Hoffer, M.J.V. and Henderson, L.B. and McGowan, R. and Wentzensen, I.M. and Pei, S. and Zahir, F.R. and Yu, M. and Gibson, W.T. and Seman, A. and Steeves, M. and Murrell, J.R. and Luettgen, S. and Francisco, E. and Strom, T.M. and Amlie-Wolf, L. and Kaindl, A.M. and Wilson, W.G. and Halbach, S. and Basel-Salmon, L. and Lev-El, N. and Denecke, J. and Vissers, L.E.L.M. and Radtke, K. and Chelly, J. and Zackai, E. and Friedman, J.M. and Bamshad, M.J. and Nickerson, D.A. and Reid, R.R. and Devriendt, K. and Chae, J.-H. and Stolerman, E. and McDougall, C. and Powis, Z. and Bienvenu, T. and Tan, T.Y. and Orenstein, N. and Dobyns, W.B. and Shieh, J.T. and Choi, M. and Waggoner, D. and Gripp, K.W. and Parker, M.J. and Stoler, J. and Lyonnet, S. and Cormier-Daire, V. and Viskochil, D. and Hoffman, T.L. and Amiel, J. and Chung, B.H.Y. and Gordon, C.T.
DOI: 10.1093/brain/awz379
2020

Exome Sequencing and Clinical Diagnosis
JAMA - Journal of the American Medical Association
Friedman, J.M. and Jones, K.L. and Carey, J.C.
DOI: 10.1001/jama.2020.11126
2020

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

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

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8
Journal of Human Genetics
Yasin, H. and Gibson, W.T. and Langlois, S. and Stowe, R.M. and Tsang, E.S. and Lee, L. and Poon, J. and Tran, G. and Tyson, C. and Wong, C.K. and Marra, M.A. and Friedman, J.M. and Zahir, F.R.
DOI: 10.1038/s10038-019-0561-0
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

PLPHP deficiency: Clinical, genetic, biochemical, and mechanistic insights
Brain
Johnstone, D.L. and Al-Shekaili, H.H. and Tarailo-Graovac, M. and Wolf, N.I. and Ivy, A.S. and Demarest, S. and Roussel, Y. and Ciapaite, J. and Van Roermund, C.W.T. and Kernohan, K.D. and Kosuta, C. and Ban, K. and Ito, Y. and McBride, S. and Al-Thihli, K. and Abdelrahim, R.A. and Koul, R. and Al Futaisi, A. and Haaxma, C.A. and Olson, H. and Sigurdardottir, L.Y. and Arnold, G.L. and Gerkes, E.H. and Boon, M. and Heiner-Fokkema, M.R. and Noble, S. and Bosma, M. and Jans, J. and Koolen, D.A. and Kamsteeg, E.-J. and Drögemöller, B. and Ross, C.J. and Majewski, J. and Cho, M.T. and Begtrup, A. and Wasserman, W.W. and Bui, T. and Brimble, E. and Violante, S. and Houten, S.M. and Wevers, R.A. and Van Faassen, M. and Kema, I.P. and Lepage, N. and Lines, M.A. and Dyment, D.A. and Wanders, R.J.A. and Verhoeven-Duif, N. and Ekker, M. and Boycott, K.M. and Friedman, J.M. and Pena, I.A. and Van Karnebeek, C.D.M.
DOI: 10.1093/brain/awy346
2019

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges
European Journal of Pediatrics
Elliott, A.M. and du Souich, C. and Lehman, A. and Guella, I. and Evans, D.M. and Candido, T. and Tooman, L. and Armstrong, L. and Clarke, L. and Gibson, W. and Gill, H. and Lavoie, P.M. and Lewis, S. and McKinnon, M.L. and Nikkel, S.M. and Patel, M. and Solimano, A. and Synnes, A. and Ting, J. and van Allen, M. and Christilaw, J. and Farrer, M.J. and Friedman, J.M. and Osiovich, H.
DOI: 10.1007/s00431-019-03399-4
2019

Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?
Genetics in Medicine
Friedman, J.M. and Bombard, Y. and Cornel, M.C. and Fernandez, C.V. and Junker, A.K. and Plon, S.E. and Stark, Z. and Knoppers, B.M.
DOI: 10.1038/s41436-018-0055-z
2019

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy
Translational Research
Brodehl, A. and Rezazadeh, S. and Williams, T. and Munsie, N.M. and Liedtke, D. and Oh, T. and Ferrier, R. and Shen, Y. and Jones, S.J.M. and Stiegler, A.L. and Boggon, T.J. and Duff, H.J. and Friedman, J.M. and Gibson, W.T. and Childs, S.J. and Gerull, B.
DOI: 10.1016/j.trsl.2019.02.004
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

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation
Molecular Genetics and Metabolism
Haijes, H.A. and de Sain-van der Velden, M.G.M. and Prinsen, H.C.M.T. and Willems, A.P. and van der Ham, M. and Gerrits, J. and Couse, M.H. and Friedman, J.M. and van Karnebeek, C.D.M. and Selby, K.A. and van Hasselt, P.M. and Verhoeven-Duif, N.M. and Jans, J.J.M.
DOI: 10.1016/j.ymgme.2019.07.001
2019

Neurofibromatosis 1
PubMed: 20301288
05/2018

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
Chohan, H. and Esfandiarei, M. and Arman, D. and Van Raamsdonk, C.D. and Van Breemen, C. and Friedman, J.M. and Jett, K.A.
DOI: 10.1371/journal.pone.0208835
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

Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1
Orphanet Journal of Rare Diseases
Sellmer, L. and Farschtschi, S. and Marangoni, M. and Heran, M.K.S. and Birch, P. and Wenzel, R. and Mautner, V.-F. and Friedman, J.M.
DOI: 10.1186/s13023-018-0811-9
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
Dragojlovic, N. and Kim, E. and Elliott, A.M. and Friedman, J.M. and Lynd, L.D.
DOI: 10.1111/jep.12876
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

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia
Molecular Genetics and Genomic Medicine
Elliott, A.M. and du Souich, C. and Adam, S. and Dragojlovic, N. and van Karnebeek, C. and Nelson, T.N. and Lehman, A. and Lynd, L.D. and Friedman, J.M.
DOI: 10.1002/mgg3.410
2018

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study
Genetics in Medicine
Dragojlovic, N. and Elliott, A.M. and Adam, S. and van Karnebeek, C. and Lehman, A. and Mwenifumbo, J.C. and Nelson, T.N. and du Souich, C. and Friedman, J.M. and Lynd, L.D.
DOI: 10.1038/gim.2017.226
2018

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

Key implications of data sharing in pediatric genomics
JAMA Pediatrics
Rahimzadeh, V. and Schickhardt, C. and Knoppers, B.M. and Sénécal, K. and Vears, D.F. and Fernandez, C.V. and Pfister, S. and Plon, S. and Terry, S. and Williams, J. and Williams, M.S. and Cornel, M. and Friedman, J.M.
DOI: 10.1001/jamapediatrics.2017.5500
2018

Introduction
Handbook of Developmental Neurotoxicology
DOI: 10.1016/B978-0-12-809405-1.00054-7
2018

Genomic newborn screening: public health policy considerations and recommendations
BMC Medical Genomics
Friedman, J.M. and Cornel, M.C. and Goldenberg, A.J. and Lister, K.J. and Sénécal, K. and Vears, D.F.
DOI: 10.1186/s12920-017-0247-4
2017

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

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
BMC Genomics
Zahir, F.R. and Mwenifumbo, J.C. and Chun, H.-J.E. and Lim, E.L. and Van Karnebeek, C.D.M. and Couse, M. and Mungall, K.L. and Lee, L. and Makela, N. and Armstrong, L. and Boerkoel, C.F. and Langlois, S.L. and McGillivray, B.M. and Jones, S.J.M. and Friedman, J.M. and Marra, M.A.
DOI: 10.1186/s12864-017-3671-0
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
Thibodeau, M.L. and Peters, C.H. and Townsend, K.N. and Shen, Y. and Hendson, G. and Adam, S. and Selby, K. and Macleod, P.M. and Gershome, C. and Ruben, P. and Jones, S.J.M. and Friedman, J.M. and Gibson, W.T. and Horvath, G.A.
DOI: 10.1002/ajmg.a.38400
2017

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
American Journal of Human Genetics
Lehman, A. and Thouta, S. and Mancini, G.M.S. and Naidu, S. and van Slegtenhorst, M. and McWalter, K. and Person, R. and Mwenifumbo, J. and Salvarinova, R. and Adam, S. and du Souich, C. and Elliott, A.M. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Boelman, C. and Bolbocean, C. and Buerki, S.E. and Candido, T. and Eydoux, P. and Evans, D.M. and Gibson, W. and Horvath, G. and Huh, L. and Sinclair, G. and Tarling, T. and Toyota, E.B. and Townsend, K.N. and Van Allen, M.I. and Vercauteren, S. and Guella, I. and McKenzie, M.B. and Datta, A. and Connolly, M.B. and Kalkhoran, S.M. and Poburko, D. and Farrer, M.J. and Demos, M. and Desai, S. and Claydon, T.
DOI: 10.1016/j.ajhg.2017.05.016
2017

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy
Human Molecular Genetics
Farhan, S.M.K. and Nixon, K.C.J. and Everest, M. and Edwards, T.N. and Long, S. and Segal, D. and Knip, M.J. and Arts, H.H. and Chakrabarti, R. and Wang, J. and Robinson, J.F. and Lee, D. and Mirsattari, S.M. and Rupar, C.A. and Siu, V.M. and Poulter, M.O. and Hegele, R.A. and Kramer, J.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: 10.1093/hmg/ddx316
2017

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

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
Adam, S. and Friedman, J.M.
DOI: 10.1016/j.jclinepi.2017.08.020
2017

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
American Journal of Human Genetics
Cuvertino, S. and Stuart, H.M. and Chandler, K.E. and Roberts, N.A. and Armstrong, R. and Bernardini, L. and Bhaskar, S. and Callewaert, B. and Clayton-Smith, J. and Davalillo, C.H. and Deshpande, C. and Devriendt, K. and Digilio, M.C. and Dixit, A. and Edwards, M. and Friedman, J.M. and Gonzalez-Meneses, A. and Joss, S. and Kerr, B. and Lampe, A.K. and Langlois, S. and Lennon, R. and Loget, P. and Ma, D.Y.T. and McGowan, R. and Des Medt, M. and O'Sullivan, J. and Odent, S. and Parker, M.J. and Pebrel-Richard, C. and Petit, F. and Stark, Z. and Stockler-Ipsiroglu, S. and Tinschert, S. and Vasudevan, P. and Villa, O. and White, S.M. and Zahir, F.R. and Woolf, A.S. and Banka, S.
DOI: 10.1016/j.ajhg.2017.11.006
2017

Non-optic glioma in adults and children with neurofibromatosis 1
Orphanet Journal of Rare Diseases
Sellmer, L. and Farschtschi, S. and Marangoni, M. and Heran, M.K.S. and Birch, P. and Wenzel, R. and Friedman, J.M. and Mautner, V.-F.
DOI: 10.1186/s13023-017-0588-2
2017

A case of splenomegaly in CBL syndrome
European Journal of Medical Genetics
Coe, R.R. and McKinnon, M.L. and Tarailo-Graovac, M. and Ross, C.J. and Wasserman, W.W. and Friedman, J.M. and Rogers, P.C. and van Karnebeek, C.D.M.
DOI: 10.1016/j.ejmg.2017.04.009
2017

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

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes
American Journal of Medical Genetics, Part A
Zahir, F.R. and Tucker, T. and Mayo, S. and Brown, C.J. and Lim, E.L. and Taylor, J. and Marra, M.A. and Hamdan, F.F. and Michaud, J.L. and Friedman, J.M.
DOI: 10.1002/ajmg.a.37669
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

Safety of Selective Serotonin Reuptake Inhibitors in Pregnancy: A Review of Current Evidence
CNS Drugs
Alwan, S. and Friedman, J.M. and Chambers, C.
DOI: 10.1007/s40263-016-0338-3
2016

Low risk of solid tumors in persons with Down syndrome
Genetics in Medicine
Hasle, H. and Friedman, J.M. and Olsen, J?.H. and Rasmussen, S.A.
DOI: 10.1038/gim.2016.23
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

Exome sequencing and the management of neurometabolic disorders
New England Journal of Medicine
Tarailo-Graovac, M. and Shyr, C. and Ross, C.J. and Horvath, G.A. and Salvarinova, R. and Ye, X.C. and Zhang, L.-H. and Bhavsar, A.P. and Lee, J.J.Y. and Drögemöller, B.I. and Abdelsayed, M. and Alfadhel, M. and Armstrong, L. and Baumgartner, M.R. and Burda, P. and Connolly, M.B. and Cameron, J. and Demos, M. and Dewan, T. and Dionne, J. and Evans, A.M. and Friedman, J.M. and Garber, I. and Lewis, S. and Ling, J. and Mandal, R. and Mattman, A. and McKinnon, M. and Michoulas, A. and Metzger, D. and Ogunbayo, O.A. and Rakic, B. and Rozmus, J. and Ruben, P. and Sayson, B. and Santra, S. and Schultz, K.R. and Selby, K. and Shekel, P. and Sirrs, S. and Skrypnyk, C. and Superti-Furga, A. and Turvey, S.E. and Van Allen, M.I. and Wishart, D. and Wu, J. and Wu, J. and Zafeiriou, D. and Kluijtmans, L. and Wevers, R.A. and Eydoux, P. and Lehman, A.M. and Vallance, H. and Stockler-Ipsiroglu, S. and Sinclair, G. and Wasserman, W.W. and Van Karnebeek, C.D.
DOI: 10.1056/NEJMoa1515792
2016

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

Comparing the ability of OPTION¹² and OPTION⁵ to assess shared decision-making in genetic counselling.
Patient Education and Counseling
Vortel, M.A. and Adam, S. and Port-Thompson, A.V. and Friedman, J.M. and Grande, S.W. and Birch, P.H.
DOI: 10.1016/j.pec.2016.03.024
2016

Parents' Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing
Journal of Nursing Scholarship
Li, K.C. and Birch, P.H. and Garrett, B.M. and Macphee, M. and Adam, S. and Friedman, J.M.
DOI: 10.1111/jnu.12207
2016

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy
Human Mutation
Brodehl, A. and Ferrier, R.A. and Hamilton, S.J. and Greenway, S.C. and Brundler, M.-A. and Yu, W. and Gibson, W.T. and Mckinnon, M.L. and Mcgillivray, B. and Alvarez, N. and Giuffre, M. and Schwartzentruber, J. 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: 10.1002/humu.22942
2016

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

Antineoplastic drugs
Drugs During Pregnancy and Lactation: Treatment Options and Risk Assessment: Third Edition
DOI: 10.1016/B978-0-12-408078-2.00014-7
2015

Specific SSRIs and birth defects: Bayesian analysis to interpret new data in the context of previous reports
BMJ (Online)
Reefhuis, J. and Devine, O. and Friedman, J.M. and Louik, C. and Honein, M.A.
DOI: 10.1136/bmj.h3190
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

Genetic mosaics and the germ line lineage
Genes
Samuels, M.E. and Friedman, J.M.
DOI: 10.3390/genes6020216
2015

Clinical and molecular predictors of mortality in neurofibromatosis 2: A UK national analysis of 1192 patients
Journal of Medical Genetics
Hexter, A. and Jones, A. and Joe, H. and Heap, L. and Smith, M.J. and Wallace, A.J. and Halliday, D. and Parry, A. and Taylor, A. and Raymond, L. and Shaw, A. and Afridi, S. and Obholzer, R. and Axon, P. and King, A.T. and Friedman, J.M. and D Gareth R and Burnet, N. and Donnelly, N. and Durie-Gair, J. and English, M. and Folland, N. and Foweraker, K. and Harris, F. and Harris, F. and Heney, D. and Jeffries, S. and Jena, R. and Knight, R. and Lamb, T. and Macfarlane, R. and Mannion, R. and Nicholson, J. and Price, R. and Rands, E. and Sanghera, P. and Scoffings, D. and Tysome, J. and Ferner, R.E. and Hammond, C. and Lascelles, K. and Nunn, T. and Saeed, S. and Swampillai, A. and Thomson, S. and Walsh, D. and Williams, V. and Wood, S. and Anup, R. and Duff, C. and Evans, D.G. and Freeman, S.R. and Howie, E. and Huson, S.M. and Jarvis, N. and Kamaly-Asi, I. and King, A. and Kellett, M. and Kilday, J.-P. and Lloyd, S.K. and Malluci, C. and Mawman, D. and McBain, C. and Mills, S. and O'Driscoll, M. and Patel, S. and Perry, M. and Rutherford, S.A. and Scott-Kitching, V. and Stivaros, S.M. and Thomas, O. and Vassallo, G. and Ward, C.L. and Blesing, C. and Cogswell, L. and Dalton, L. and Dodridge, C. and Elston, J. and Giele, H. and Hanemann, C.O. and Howard, W. and Johnson, D. and Kerr, R. and Laws, A. and Lee, J. and Mace, E. and May, A. and Milford, C. and Pretorius, P. and Ramsden, J. and Redman, C. and Warner, N. and Wilson, S.
DOI: 10.1136/jmedgenet-2015-103290
2015

Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1
American Journal of Medical Genetics, Part A
Jett, K. and Nguyen, R. and Arman, D. and Birch, P. and Chohan, H. and Farschtschi, S. and Fuensterer, C. and Kluwe, L. and Friedman, J.M. and Mautner, V.F.
DOI: 10.1002/ajmg.a.37068
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

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

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
Boycott, K. and Hartley, T. and Adam, S. and Bernier, F. and Chong, K. and Fernandez, B.A. and Friedman, J.M. and Geraghty, M.T. and Hume, S. and Knoppers, B.M. and Laberge, A.-M. and Majewski, J. and Mendoza-Londono, R. and Meyn, M.S. and Michaud, J.L. and Nelson, T.N. and Richer, J. and Sadikovic, B. and Skidmore, D.L. and Stockley, T. and Taylor, S. and van Karnebeek, C. and Zawati, M.H. and Lauzon, J. and Armour, C.M.
DOI: 10.1136/jmedgenet-2015-103144
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

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

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

FORGE Canada consortium: Outcomes of a 2-year national rare-disease gene-discovery project
American Journal of Human Genetics
Beaulieu, C.L. and Majewski, J. and Schwartzentruber, J. and Samuels, M.E. and Fernandez, B.A. and Bernier, F.P. and Brudno, M. and Knoppers, B. and Marcadier, J. and Dyment, D. and Adam, S. and Bulman, D.E. and Jones, S.J.M. and Avard, D. and Nguyen, M.T. and Rousseau, F. and Marshall, C. and Wintle, R.F. and Shen, Y. and Scherer, S.W. and Friedman, J.M. and Michaud, J.L. and Boycott, K.M.
DOI: 10.1016/j.ajhg.2014.05.003
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

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

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

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

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

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

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

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

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

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 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

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

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

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
Orphanet Journal of Rare Diseases
Demos, M.K. and Van Karnebeek, C.D.M. and Ross, C.J.D. and Adam, S. and Shen, Y. and Zhan, S.H. and Shyr, C. and Horvath, G. and Suri, M. and Fryer, A. and Jones, S.J.M. and Friedman, J.M.
DOI: 10.1186/1750-1172-9-15
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

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

Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: An exploration of clinical practice among medical geneticists
Genetics in Medicine
Morris, E. and Inglis, A. and Friedman, J. and Austin, J.
DOI: 10.1038/gim.2013.31
2013

The generalized bone phenotype in children with neurofibromatosis 1: A sibling matched case-control study
American Journal of Medical Genetics, Part A
Armstrong, L. and Jett, K. and Birch, P. and Kendler, D.L. and Mckay, H. and Tsang, E. and Stevenson, D.A. and Hanley, D.A. and Egeli, D. and Burrows, M. and Friedman, J.M.
DOI: 10.1002/ajmg.a.36001
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

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
DOI: 10.1016/B978-0-12-383834-6.00044-6
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

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

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

Prevalence of selected genomic deletions and duplications in a french–canadian population-based sample of newborns
Molecular Genetics and Genomic Medicine
Tucker, T. and Giroux, S. and Clément, V. and Langlois, S. and Friedman, J.M. and Rousseau, F.
DOI: 10.1002/mgg3.12
2013

Paternalism and the ACMG recommendations on genomic incidental findings: Patients seen but not heard
Genetics in Medicine
Townsend, A. and Adam, S. and Birch, P.H. and Friedman, J.M.
DOI: 10.1038/gim.2013.105
2013

Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing
American Journal of Medical Genetics, Part A
Lohn, Z. and Adam, S. and Birch, P. and Townsend, A. and Friedman, J.
DOI: 10.1002/ajmg.a.35794
2013

Effect of vitamin D3 treatment on bone density in neurofibromatosis 1 patients: A retrospective clinical study
Joint Bone Spine
Schnabel, C. and Jett, K. and Friedman, J.M. and Frieling, I. and Kruse, H.-P. and Mautner, V.
DOI: 10.1016/j.jbspin.2012.07.010
2013

Hospitalizations among people with Down syndrome: A nationwide population-based study in Denmark
American Journal of Medical Genetics, Part A
Zhu, J.L. and Hasle, H. and Correa, A. and Schendel, D. and Friedman, J.M. and Olsen, J. and Rasmussen, S.A.
DOI: 10.1002/ajmg.a.35711
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

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

Prospective study of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of all-cause and cardiovascular disease mortality among 6000 US adults
American Journal of Clinical Nutrition
Yang, Q. and Bailey, L. and Clarke, R. and Flanders, W.D. and Liu, T. and Yesupriya, A. and Khoury, M.J. and Friedman, J.M.
DOI: 10.3945/ajcn.111.022384
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

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of walker-warburg syndrome
American Journal of Human Genetics
Manzini, M.C. and Tambunan, D.E. and Hill, R.S. and Yu, T.W. and Maynard, T.M. and Heinzen, E.L. and Shianna, K.V. and Stevens, C.R. and Partlow, J.N. and Barry, B.J. and Rodriguez, J. and Gupta, V.A. and Al-Qudah, A.-K. and Eyaid, W.M. and Friedman, J.M. and Salih, M.A. and Clark, R. and Moroni, I. and Mora, M. and Beggs, A.H. and Gabriel, S.B. and Walsh, C.A.
DOI: 10.1016/j.ajhg.2012.07.009
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
Bombard, Y. and Palin, J. and Friedman, J.M. and Veenstra, G. and Creighton, 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.32016
2012

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome
American Journal of Medical Genetics, Part A
Tsang, E. and Rupps, R. and Mcgillivray, B. and Eydoux, P. and Marra, M. and Arbour, L. and Langlois, S. and Friedman, J.M. and Zahir, F.R.
DOI: 10.1002/ajmg.a.35568
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
Townsend, A. and Adam, S. and Birch, P.H. and Lohn, Z. and Rousseau, F. and Friedman, J.M.
DOI: 10.1002/ajmg.a.35554
2012

OTIS special issue preface
Birth Defects Research Part A - Clinical and Molecular Teratology
Chambers, C. and Friedman, J.M.
DOI: 10.1002/bdra.23069
2012

Molecular basis of cardiovascular abnormalities in NF1
Neurofibromatosis Type 1: Molecular and Cellular Biology
DOI: 10.1007/978-3-642-32864-0_23
2012

Quality of life in NF1
Neurofibromatosis Type 1: Molecular and Cellular Biology
Birch, P. and Friedman, J.M.
DOI: 10.1007/978-3-642-32864-0_8
2012

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

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

Reply
American Journal of Obstetrics and Gynecology
Broussard, C.S. and Rasmussen, S.A. and Friedman, J.M.
DOI: 10.1016/j.ajog.2011.04.027
2011

Massively Parallel Sequencing
Molecular Analysis and Genome Discovery: Second Edition
DOI: 10.1002/9781119977438.ch6
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

Patterns of antidepressant medication use among pregnant women in a united states population
Journal of Clinical Pharmacology
Alwan, S. and Reefhuis, J. and Rasmussen, S.A. and Friedman, J.M.
DOI: 10.1177/0091270010373928
2011

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

The sensitivity of massively parallel sequencing for detecting candidate infectious agents associated with human tissue
PLoS ONE
Moore, R.A. and Warren, R.L. and Freeman, J.D. and Gustavsen, J.A. and Chénard, C. and Friedman, J.M. and Suttle, C.A. and Zhao, Y. and Holt, R.A.
DOI: 10.1371/journal.pone.0019838
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
Tucker, T. and Riccardi, V.M. and Brown, C. and Fee, J. and Sutcliffe, M. and Vielkind, J. and Wechsler, J. and Wolkenstein, P. and Friedman, J.M.
DOI: 10.1002/jnr.22654
2011

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

Different patterns of mast cells distinguish diffuse from encapsulated neurofibromas in patients with neurofibromatosis 1
Journal of Histochemistry and Cytochemistry
Tucker, T. and Riccardi, V.M. and Sutcliffe, M. and Vielkind, J. and Wechsler, J. and Wolkenstein, P. and Friedman, J.M.
DOI: 10.1369/0022155411407340
2011

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation
BMC Medical Genomics
Tucker, T. and Montpetit, A. and Chai, D. and Chan, S. and Chénier, S. and Coe, B.P. and Delaney, A. and Eydoux, P. and Lam, W.L. and Langlois, S. and Lemyre, E. and Marra, M. and Qian, H. and Rouleau, G.A. and Vincent, D. and Michaud, J.L. and Friedman, J.M.
DOI: 10.1186/1755-8794-4-25
2011

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

Maternal treatment with opioid analgesics and risk for birth defects
American Journal of Obstetrics and Gynecology
Broussard, C.S. and Rasmussen, S.A. and Reefhuis, J. and Friedman, J.M. and Jann, M.W. and Riehle-Colarusso, T. and Honein, M.A.
DOI: 10.1016/j.ajog.2010.12.039
2011

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
American Journal of Human Genetics
Miller, D.T. and Adam, M.P. and Aradhya, S. and Biesecker, L.G. and Brothman, A.R. and Carter, N.P. and Church, D.M. and Crolla, J.A. and Eichler, E.E. and Epstein, C.J. and Faucett, W.A. and Feuk, L. and Friedman, J.M. and Hamosh, A. and Jackson, L. and Kaminsky, E.B. and Kok, K. and Krantz, I.D. and Kuhn, R.M. and Lee, C. and Ostell, J.M. and Rosenberg, C. and Scherer, S.W. and Spinner, N.B. and Stavropoulos, D.J. and Tepperberg, J.H. and Thorland, E.C. and Vermeesch, J.R. and Waggoner, D.J. and Watson, M.S. and Martin, C.L. and Ledbetter, D.H.
DOI: 10.1016/j.ajhg.2010.04.006
2010

Maternal use of bupropion and risk for congenital heart defects
American Journal of Obstetrics and Gynecology
Alwan, S. and Reefhuis, J. and Botto, L.D. and Rasmussen, S.A. and Correa, A. and Friedman, J.M.
DOI: 10.1016/j.ajog.2010.02.015
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

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

The principles of teratology: are they still true?
Birth defects research. Part A, Clinical and molecular teratology
Friedman, J.M.
DOI: 10.1002/bdra.20697
2010

Prevalence of dental caries in children with neurofibromatosis 1
Clinical Oral Investigations
Tsang, E.S. and Birch, P. and Friedman, J.M. and Johnston, D. and Tucker, T. and Armstrong, L.
DOI: 10.1007/s00784-009-0361-6
2010

Value for Money? Array Genomic Hybridization for Diagnostic Testing for Genetic Causes of Intellectual Disability
American Journal of Human Genetics
Regier, D.A. and Friedman, J.M. and Marra, C.A.
DOI: 10.1016/j.ajhg.2010.03.009
2010

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

A different approach to validating screening assays for developmental toxicity
Birth Defects Research Part B - Developmental and Reproductive Toxicology
Daston, G.P. and Chapin, R.E. and Scialli, A.R. and Piersma, A.H. and Carney, E.W. and Rogers, J.M. and Friedman, J.M.
DOI: 10.1002/bdrb.20276
2010

Perceptions of genetic discrimination among people at risk for Huntington’s disease: A cross sectional survey
BMJ (Online)
Bombard, Y. and Veenstra, G. and Friedman, J.M. and Creighton, S. and Currie, L. 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: 10.1136/bmj.b2175
2009

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

High-resolution array genomic hybridization in prenatal diagnosis
Prenatal Diagnosis
DOI: 10.1002/pd.2129
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
Zahir, F.R. and Langlois, S. and Gall, K. and Eydoux, P. and Marra, M.A. and Friedman, J.M.
DOI: 10.1002/ajmg.a.32827
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

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

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
Makela, N.L. and Birch, P.H. and Friedman, J.M. and Marra, C.A.
DOI: 10.1002/ajmg.a.33050
2009

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
BMC Genomics
Friedman, J.M. and Adam, S. and Arbour, L. and Armstrong, L. and Baross, A. and Birch, P. and Boerkoel, C. and Chan, S. and Chai, D. and Delaney, A.D. and Flibotte, S. and Gibson, W.T. and Langlois, S. and Lemyre, E. and Li, H.I. and MacLeod, P. and Mathers, J. and Michaud, J.L. and McGillivray, B.C. and Patel, M.S. and Qian, H. and Rouleau, G.A. and Van Allen, M.I. and Yong, S. and Zahir, F.R. and Eydoux, P. and Marra, M.A.
DOI: 10.1186/1471-2164-10-526
2009

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

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7
European Journal of Medical Genetics
Lehman, A.M. and Friedman, J.M. and Chai, D. and Zahir, F.R. and Marra, M.A. and Prisman, L. and Tsang, E. and Eydoux, P. and Armstrong, L.
DOI: 10.1016/j.ejmg.2009.09.006
2009

Safety of selective serotonin reuptake inhibitors in pregnancy
CNS Drugs
Alwan, S. and Friedman, J.M.
DOI: 10.2165/00023210-200923060-00004
2009

Valuing the benefit of diagnostic testing for genetic causes of idiopathic developmental disability: Willingness to pay from families of affected children
Clinical Genetics
Regier, D.A. and Friedman, J.M. and Makela, N. and Ryan, M. and Marra, C.A.
DOI: 10.1111/j.1399-0004.2009.01193.x
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

Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options
American Journal of Medical Genetics, Part A
Elefteriou, F. and Kolanczyk, M. and Schindeler, A. and Viskochil, D.H. and Hock, J.M. and Schorry, E.K. and Crawford, A.H. and Friedman, J.M. and Little, D. and Peltonen, J. and Carey, J.C. and Feldman, D. and Yu, X. and Armstrong, L. and Birch, P. and Kendler, D.L. and Mundlos, S. and Yang, F.-C. and Agiostratidou, G. and Hunter-Schaedle, K. and Stevenson, D.A.
DOI: 10.1002/ajmg.a.33045
2009

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

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

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

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

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
American Journal of Clinical Nutrition
Yang, Q.-H. and Botto, L.D. and Gallagher, M. and Friedman, J.M. and Sanders, C.L. and Koontz, D. and Nikolova, S. and Erickson, J.D. and Steinberg, K.
DOI: 10.1093/ajcn/88.1.232
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

Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1
Neuro-Oncology
Mautner, V.-F. and Asuagbor, F.A. and Dombi, E. and Fünsterer, C. and Kluwe, L. and Wenzel, R. and Widemann, B.C. and Friedman, J.M.
DOI: 10.1215/15228517-2008-011
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

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 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

Structural Variation of Chromosomes in Autism Spectrum Disorder
American Journal of Human Genetics
Marshall, C.R. and Noor, A. and Vincent, J.B. and Lionel, A.C. and Feuk, L. and Skaug, J. and Shago, M. and Moessner, R. and Pinto, D. and Ren, Y. and Thiruvahindrapduram, B. and Fiebig, A. and Schreiber, S. and Friedman, J. and Ketelaars, C.E.J. and Vos, Y.J. and Ficicioglu, C. and Kirkpatrick, S. and Nicolson, R. and Sloman, L. and Summers, A. and Gibbons, C.A. and Teebi, A. and Chitayat, D. and Weksberg, R. and Thompson, A. and Vardy, C. and Crosbie, V. and Luscombe, S. and Baatjes, R. and Zwaigenbaum, L. and Roberts, W. and Fernandez, B. and Szatmari, P. and Scherer, S.W.
DOI: 10.1016/j.ajhg.2007.12.009
2008

Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients
Human Mutation
Prattichizzo, C. and Macca, M. and Novelli, V. and Giorgio, G. and Barra, A. and Franco, B. and Abdulla, F. and Abramowicz, M. and Amy, S. and Schafer, I. and Bankier, A. and White, S. and Barcina, M.G. and Bartoshesky, L.E. and Jenny, K. and Beemer, F.A. and Benke, P. and Betz, R.C. and Bianchini, G. and Garavelli, L. and Bigoni, S. and Bird, L. and Chibuk, J. and Masser-Frye, D. and Brunetti, N. and Scarcella, A. and Brunner, H.G. and Burn, J. and Carmi, R. and Castellan, C. and Castelluccio, P. and Castle, B. and Chiong, M.A. and Cutiongco, E.M. and Collins, F. and Couchon, E. and Curry, A. and Pastore, M. and Curry, C. and Swenerton, A. and Treisman, T. and Dean, J. and Devriendt, K. and Matthijs, G. and Dunlap, J.W. and Shashi, V. and Elcioglu, N. and Farndon, P. and Ferrero, G.B. and Ferrier, R. and Foulds, N. and Friedman, J.M. and Gal, A. and Orth, U. and Gardner, M. and Gerola, O. and Gillessen-Kaesbach, G. and Giuliano, F. and Turc-Carel, C. and Gödde, E. and Graber, V. and Graham, G.E. and Gurrieri, F. and Harbour, L. and Henderson, A. and Jones, E. and Heran, H. and Homfray, T. and Taylor, R. and Iwarsson, E. and Jensen, P. and Jezela-Stanek, A. and Joss, S. and Taylor, G. and Keeling, S.L. and Klatt, R. and Teebi, A. and Klehr-Martinelli, M. and Kotzot, D. and Lees, M. and Loughlin, S. and Lhotta, K. and Macdonald, F. and Mari, F. and Renieri, A. and Marlin, S. and McGaughran, J. and McKenzie, F. and McLeod, D.R. and Megarbane, A. and Mota, C.R. and Mucke, J. and Tzschach, A. and Obersztyn, E. and Okhowat, R. and Shinzel, A. and Pfau, R. and Pober, B. and Raymond, F.L. and Reich, E. and Reimschisel, T. and Robertson, J. and Roggenbuck, J. and Sabato, A. and Sanchez Del Pozo, J. and Schell-Apacik, C. and Schwaab, E. and Selicorni, A. and Sell, S. and Smithson, S. and Stray-Pedersen, A. and Tan, T. and Thiese, H. and Tol, J. and Toprak, O. and Trump, D. and Whittaker, J. and Williams, D. and Zelante, L. and Zoll, B.
DOI: 10.1002/humu.20792
2008

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

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

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

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

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

Associations of osseous abnormalities in neurofibromatosis
American Journal of Medical Genetics, Part A
Alwan, S. and Armstrong, L. and Joe, H. and Birch, P.H. and Szudek, J. and Friedman, J.M.
DOI: 10.1002/ajmg.a.31754
2007

Early primary tooth eruption in neurofibromatosis 1 individuals: Letter to the Editor
European Journal of Oral Sciences
Lammert, M. and Friedrich, R.E. and Friedman, J.M. and Mautner, V.-F. and Tucker, T.
DOI: 10.1111/j.1600-0722.2007.00474.x
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
American Journal of Clinical Nutrition
Yang, Q.-H. and Carter, H.K. and Mulinare, J. and Berry, R.J. and Friedman, J.M. and Erickson, J.D.
DOI: 10.1093/ajcn/85.5.1409
2007

Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data
BMC Bioinformatics
Baross, ?. and Delaney, A.D. and Li, H.I. and Nayar, T. and Flibotte, S. and Qian, H. and Chan, S.Y. and Asano, J. and Ally, A. and Cao, M. and Birch, P. and Brown-John, M. and Fernandes, N. and Go, A. and Kennedy, G. and Langlois, S. and Eydoux, P. and Friedman, J.M. and Marra, M.A.
DOI: 10.1186/1471-2105-8-368
2007

Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility
Fertility and Sterility
Weksberg, R. and Shuman, C. and Wilkins-Haug, L. and Mann, M. and Croughan, M. and Stewart, D. and Rakowsky, C. and Leader, A. and Hall, J. and Friedman, J.M. and Simpson, J.L. and Holmes, L. and Infante-Rivard, C.
DOI: 10.1016/j.fertnstert.2006.11.114
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

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

Survival in infants with Down syndrome, Metropolitan Atlanta, 1979-1998
Journal of Pediatrics
Rasmussen, S.A. and Wong, L.-Y. and Correa, A. and Gambrell, D. and Friedman, J.M.
DOI: 10.1016/j.jpeds.2006.01.010
2006

Ensuring the safe and effective use of medications during pregnancy: Planning and prevention through preconception care
Maternal and Child Health Journal
Cragan, J.D. and Friedman, J.M. and Holmes, L.B. and Uhl, K. and Green, N.S. and Riley, L.
DOI: 10.1007/s10995-006-0102-2
2006

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

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
Kenneson, A. and Kolor, K. and Yang, Q. and Olney, R.S. and Rasmussen, S.A. and Friedman, J.M.
DOI: 10.1002/ajmg.a.31437
2006

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
American Journal of Human Genetics
Friedman, J.M. and Baross, ?. and Delaney, A.D. and Ally, A. and Arbour, L. and Asano, J. and Bailey, D.K. and Barber, S. and Birch, P. and Brown-John, M. and Cao, M. and Chan, S. and Charest, D.L. and Farnoud, N. and Fernandes, N. and Flibotte, S. and Go, A. and Gibson, W.T. and Holt, R.A. and Jones, S.J.M. and Kennedy, G.C. and Krzywinski, M. and Langlois, S. and Li, H.I. and McGillivray, B.C. and Nayar, T. and Pugh, T.J. and Rajcan-Separovic, E. and Schein, J.E. and Schnerch, A. and Siddiqui, A. and Van Allen, M.I. and Wilson, G. and Yong, S.-L. and Zahir, F. and Eydoux, P. and Marra, M.A.
DOI: 10.1086/507471
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

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

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

Angiotensin II receptor antagonist 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.20102
2005

Submicroscopic deletions and duplications in individuals with intellectual disability detected by Array-CGH
American Journal of Medical Genetics
Tyson, C. and Harvard, C. and Locker, R. and Friedman, J.M. and Langlois, S. and Lewis, M.E.S. and Van Allen, M. and Somerville, M. and Arbour, L. and Clarke, L. and McGilivray, B. and Yong, S.L. and Siegel-Bartel, J. and Rajcan-Separovic, E.
DOI: 10.1002/ajmg.a.31015
2005

Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients
American Journal of Medical Genetics
Khosrotehrani, K. and Bastuji-Garin, S. and Riccardi, V.M. and Birch, P. and Friedman, J.M. and Wolkenstein, P.
DOI: 10.1002/ajmg.a.30394
2005

Reproduction and transplantation: Report on the AST Consensus Conference on Reproductive Issues and Transplantation
American Journal of Transplantation
DOI: 10.1111/j.1600-6143.2005.00969.x
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

Analysis of NF1 transcriptional regulatory elements
American Journal of Medical Genetics
Lee, T.K. and Friedman, J.M.
DOI: 10.1002/ajmg.a.30699
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

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

Prevalence of neurofibromatosis 1 in German children at elementary school enrollment
Archives of Dermatology
Lammert, M. and Friedman, J.M. and Kluwe, L. and Mautner, V.F.
DOI: 10.1001/archderm.141.1.71
2005

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

Decreased bone mineral density in patients with neurofibromatosis 1
Osteoporosis International
Lammert, M. and Kappler, M. and Mautner, V.-F. and Lammert, K. and Störkel, S. and Friedman, J.M. and Atkins, D.
DOI: 10.1007/s00198-005-1940-2
2005

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2
Journal of Medical Genetics
Baser, M.E. and Kuramoto, L. and Woods, R. and Joe, H. and Friedman, J.M. and Wallace, A.J. and Ramsden, R.T. and Olschwang, S. and Bijlsma, E. and Kalamarides, M. and Papi, L. and Kato, R. and Carroll, J. and Lázaro, C. and Joncourt, F. and Parry, D.M. and Rouleau, G.A. and Evans, D.G.R.
DOI: 10.1136/jmg.2004.029504
2005

How many genes underlie the occurrence of common complex diseases in the population?
International Journal of Epidemiology
Yang, Q. and Khoury, M.J. and Friedman, J.M. and Little, J. and Flanders, D.W.
DOI: 10.1093/ije/dyi130
2005

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

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

Utility and Limitations of Genetic Disease Databases in Clinical Genetics Research: A Neurofibromatosis 1 Database Example
American Journal of Medical Genetics - Seminars in Medical Genetics
Birch, P. and Friedman, J.M.
DOI: 10.1002/ajmg.c.30007
2004

Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: A population-based study
American Journal of Human Genetics
Baser, M.E. and Kuramoto, L. and Joe, H. and Friedman, J.M. and Wallace, A.J. and Gillespie, J.E. and Ramsden, R.T. and Evans, D.G.R.
DOI: 10.1086/422700
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

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
DOI: 10.1002/bdra.10150
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

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

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

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

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

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

Human chromosome 7: DNA sequence and biology
Science
Scherer, S.W. and Cheung, J. and MacDonald, J.R. and Osborne, L.R. and Nakabayashi, K. and Herbrick, J.-A. and Carson, A.R. and Parker-Katiraee, L. and Skaug, J. and Khaja, R. and Zhang, J. and Hudek, A.K. and Li, M. and Haddad, M. and Duggan, G.E. and Fernandez, B.A. and Kanematsu, E. and Gentles, S. and Christopoulos, C.C. and Choufani, S. and Kwasnicka, D. and Zheng, X.H. and Lai, Z. and Nusskern, D. and Zhang, Q. and Gu, Z. and Lu, F. and Zeesman, S. and Nowaczyk, M.J. and Teshima, I. and Chitayat, D. and Shuman, C. and Weksberg, R. and Zackai, E.H. and Grebe, T.A. and Cox, S.R. and Kirkpatrick, S.J. and Rahman, N. and Friedman, J.M. and Heng, H.H.Q. and Pelicci, P.G. and Lo-Coco, F. and Belloni, E. and Shaffer, L.G. and Pober, B. and Morton, C.C. and Gusella, J.F. and Bruns, G.A.P. and Korf, B.R. and Quade, B.J. and Ligon, A.H. and Ferguson, H. and Higgins, A.W. and Leach, N.T. and Herrick, S.R. and Lemyre, E. and Farra, C.G. and Kim, H.-G. and Summers, A.M. and Gripp, K.W. and Roberts, W. and Szatmari, P. and Winsor, E.J.T. and Grzeschik, K.-H. and Teebi, A. and Minassian, B.A. and Kere, J. and Armengol, L. and Pujana, M.A. and Estivill, X. and Wilson, M.D. and Koop, B.F. and Tosi, S. and Moore, G.E. and Boright, A.P. and Zlotorynski, E. and Kerem, B. and Kroisel, P.M. and Petek, E. and Oscier, D.G. and Mould, S.J. and Döhner, H. and Döhner, K. and Rommens, J.M. and Vincent, J.B. and Venter, J.C. and Li, P.W. and Mural, R.J. and Adams, M.D. and Tsui, L.-C.
DOI: 10.1126/science.1083423
2003

Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors.
Human mutation
Kluwe, L. and Friedrich, R.E. and Peiper, M. and Friedman, J. and Mautner, V.F.
DOI: 10.1002/humu.9193
2003

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

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

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
Lancet
Yang, Q. and Rasmussen, S.A. and Friedman, J.M.
DOI: 10.1016/S0140-6736(02)08092-3
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

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

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

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

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

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

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

Vestibular schwannoma growth in patients with neurofibromatosis Type 2: A longitudinal study
Journal of Neurosurgery
Mautner, V.-F. and Baser, M.E. and Thakkar, S.D. and Feigen, U.M. and Friedman, J.M. and Kluwe, L.
DOI: 10.3171/jns.2002.96.2.0223
2002

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

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

Mortality in neurofibromatosis 1: An analysis using U.S. death certificates
American Journal of Human Genetics
Rasmussen, S.A. and Yang, Q. and Friedman, J.M.
DOI: 10.1086/320121
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

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

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

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

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
DeBella, K. and Szudek, J. and Friedman, J.M.
DOI: 10.1542/peds.105.3.608
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

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

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

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

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

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

NF1 gene and neurofibromatosis 1
American Journal of Epidemiology
Rasmussen, S.A. and Friedman, J.M.
DOI: 10.1093/oxfordjournals.aje.a010118
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

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

Teratology Society 1998 Public Affairs Committee Symposium, San Diego, California, USA, 21 June 1998: The new thalidomide era: Dealing with the risks
Teratology
DOI: 10.1002/(sici)1096-9926(199902)59:23.3.co;2-o
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

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

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

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

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

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

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

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
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

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

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

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
Friedman, J.M. and Birch, P. and Greene, C. and Berry, S. and King, R. and Burke, W. and Bennett, R. and De Campos, J.M. and Huson, S. and Korf, B. and Krause, W. and Armfield, K. and Niimura, M. and Inaba, Y. and North, K. and Ortenberg, J. and Der Kaloustian, V. and Poyhonen, M. and Rubenstein, A.
DOI: 10.1002/ajmg.1320450121
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

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

ASHG/NSGC activities related to education: Workshop on human genetics education
American Journal of Human Genetics
1991

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

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

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

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

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

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

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

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

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

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

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome
American Journal of Medical Genetics
Bamforth, J.S. and Leonard, C.O. and Chodirker, B.N. and Chitayat, D. and Gritter, H.L. and Evans, J.A. and Keena, B. and Pantzar, T. and Friedman, J.M. and Hall, J.G.
DOI: 10.1002/ajmg.1320320120
1989

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

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

Kallmann syndrome associated with choanal atresia
Clinical Genetics
Klein, V.R. and Friedman, J.M. and Brookshire, G.S. and Brown, O.E. and Edman, C.D.
DOI: 10.1111/j.1399-0004.1987.tb02800.x
1987

Teratogens and growth
Growth, Genetics and Hormones
1987

Prevalence of Coxsackie B virus antibodies in patients with juvenile dermatomyositis
Arthritis & Rheumatism
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

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

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

A severe form of congenital contractural arachnodactyly in two newborn infants
American Journal of Medical Genetics
Guido Currarino and J. M. Friedman and John M. Opitz and James F. Reynolds
DOI: 10.1002/ajmg.1320250414
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

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

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

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

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
Rutledge, J.C. and Friedman, J.M. and Harrod, M.J.E. and Currarino, G. and Wright, C.G. and Pinckney, L. and Chen, H.
DOI: 10.1002/ajmg.1320190208
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

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

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

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

Binary developmental commitments in normal and abnormal human morphogenesis
Clinical Genetics
DOI: 10.1111/j.1399-0004.1980.tb01362.x
04/1980

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

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

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

HLA-B8 in juvenile dermatomyositis
The Lancet
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

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 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 malformation pattern
Birth Defects: Original Article Series
Friedman, J.M. and Hanson, J.W. and Smith, D.W.
1977

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

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

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

Carcinoma of the pancreas in four brothers
Birth Defects: Original Article Series
Friedman, J.M. and Fialkow, P.J.
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
DOI: 10.1002/9781444312904.ch2