Jan Friedman

Commentary on UBTF haploinsufficiency associated with UBTF -related global developmental delay and distinctive facial features without neuroregression

Journal of Medical Genetics

Yammine, T. and Mercier, S. and Poirsier, C. and Bednarek, N. and Clavel, C. and Cogn{\'e}, B. and Friedman, J.M. and Rogan, S. and Rio, M. and Lod{\'e}, L. and Ziegler, A.

What are patient perspectives on privacy and trust in digital genomic tools? A qualitative study

Journal of Genetic Counseling

Jha, V. and Saeedi, S. and Clausen, M. and Assamad, D. and Grewal, S. and Hirjikaka, D. and Lee, W. and Luca, S. and Shaw, A. and Hayeems, R. and Bombard, Y. and Aronson, M. and Bernier, F. and Brudno, M. and Carroll, J.C. and Chad, L. and Cohn, R. and Costain, G. and Dhalla, I. and Faghfoury, H. and Friedman, J. and Hewson, S. and Jamieson, T. and Jobling, R. and Kodida, R. and Laberge, A.-M. and Lerner-Ellis, J. and Liston, E. and Mamdani, M. and Marshall, C. and Osmond, M. and Pham, Q. and Reble, E. and Rudzicz, F. and Seto, E. and Shastri-Estrada, S. and Shuman, C. and Silver, J. and Smith, M. and Thorpe, K. and Ungar, W.J.

ZMIZ1-Associated Neurodevelopmental Disorder in a 52-Year-Old Woman

American Journal of Medical Genetics Part A

Rogan, S. and Gador, A. and Carroll, E. and Friedman, J.M.

Immune Dysregulation in a Child With SOD1-Related Neurological Disease

American Journal of Medical Genetics Part A

Boutin, R.C.T. and Shobeirian, F. and Adam, S. and Lehman, A. and Salvarinova, R. and Friedman, J.M.

Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services

Orphanet Journal of Rare Diseases

Wainstein, T. and Boelman, C. and Ens, C. and Gibson, W.T. and Gregory-Evans, K. and Kolawole, O.U. and Marshall, S.K. and Selby, K. and Zawati, M. and Wasserman, W. and Virani, A. and Pullman, D. and Lambert, D. and Friedman, J. and Dragojlovic, N. and Clarke, L. and Birch, P. and Bansback, N. and Adam, S. and Dey, A. and Lynd, L.D. and Knoppers, B. and Elliott, A.M. and Austin, J.

Putting control into parents' hands: Parent experiences with a genomic results e-booklet

Journal of Genetic Counseling

Adam, S. and Gombas, P. and Demos, M. and Boelman, C. and Connolly, M.B. and Lavelle, K. and Friedman, J.M. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Bansback, N. and Clarke, L. and Dragojlovic, N. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M. and Elliott, A.M. and Birch, P.

The development and usability of The Genetics Navigator: a digital solution for adult and paediatric clinical genetics services

European Journal of Human Genetics

Saeedi, S. and Hirijkaka, D. and Clausen, M. and Luca, S. and Reble, E. and Kodida, R. and Assamad, D. and Chad, L. and Costain, G. and Faghfoury, H. and Silver, J. and Shastri-Estrada, S. and Smith, M. and Hayeems, R.Z. and Bombard, Y. and Ungar, W.J. and Thorpe, K. and Shuman, C. and Seto, E. and Rudzicz, F. and Pham, Q. and Osmond, M. and Marshall, C. and Mamdani, M. and Liston, E. and Lerner-Ellis, J. and Laberge, A.-M. and Jobling, R. and Jamieson, T. and Hewson, S. and Friedman, J. and Dhalla, I. and Cohn, R. and Carroll, J.C. and Brudno, M. and Bernier, F. and Aronson, M.

Parental perspectives on family-centered care in pediatric neurology: An explanatory sequential mixed-methods study

Developmental Medicine and Child Neurology

Sarikaya, E. and Cook, C.B. and Selby, K.A. and Shen, Y. and Elliott, A.M. 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 Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M. and Elliott, A.M.

Genetic counselors outside of the genetics clinic: Roles, practices, and ethico-legal implications in light of lagging legal recognition across Canada

Journal of Genetic Counseling

Rojas, S.K. and Adam, S. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. 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 Elliott, A.M. and Zawati, M.H.

A clinical and genotype-phenotype analysis of MACF1 variants

American Journal of Human Genetics

Dekker, J. and Schot, R. and Aldinger, K.A. and Everman, D.B. and Washington, C. and Jones, J.R. and Sullivan, J.A. and Spillmann, R.C. and Shashi, V. and Vitobello, A. and Denomm{\'e}-Pichon, A.-S. and Mosca-Boidron, A.-L. and Perrin, L. and Auvin, S. and Zaki, M.S. and Gleeson, J.G. and Meave, N. and Wallace, C. and Nambot, S. and Delanne, J. and Ruggiero, S.M. and Helbig, I. and Fitzgerald, M.P. and Leventer, R.J. and Grange, D.K. and Argilli, E. and Sherr, E.H. and Prakash, S. and Neilson, D.E. and Nicita, F. and Sferra, A. and Bertini, E.S. and Aiello, C. and Brockmann, K. and Kuranov, A.B. and Kaulfuss, S. and Basit, S. and Alluqmani, M. and Almatrafi, A. and Friedman, J.M. and Guimond, C. and Mohammed, F. and Sharma, P. and Goel, D. and Wirth, T. and Anheim, M. and Bahena, P. and Koparir, A. and Kolokotronis, K. and Vona, B. and Haaf, T. and Kunstmann, E. and Maroofian, R. and Sczakiel, H.L. and Boschann, F. and Misra-Isrie, M. and Louie, R.J. and Stolerman, E.S. and Sanchez-Lara, P.A. and Mergler, S. and Oegema, R. and Zarate, Y.A. and Kariminejad, A. and Tajsharghi, H. and Zeidler, S. and Kievit, A.J.A. and Bouman, A. and Cappuccio, G. and Brunetti-Pierri, N. and Stuurman, K.E. and Swols, D.M. and Tekin, M. and Upadia, J. and Martin, D.M. and Craven, D. and Hiatt, S.M. and van de Pol, L.A. and D{'}Arco, F. and Margot, H. and Wilke, M. and Yousefi, S. and Barakat, T.S. and van Veghel-Plandsoen, M.M. and Aronica, E. and Anink, J. and Rogers, S.L. and Slep, K.C. and Doherty, D. and Dobyns, W.B. and Mancini, G.M.S.

The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review

Genetics in Medicine

Cook, C.B. and Pistawka, C. and Elliott, A.M. 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 Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.

Patients and parents views on how digital tools enable personalized and partnered care in Genetics: A qualitative study

Research Square

Hayeems, R. and Assamad, D. and Saeedi, S. and Grewal, S. and Jha, V. and Luca, S. and Clausen, M. and Shaw, A. and Lee, W. and Bombard, Y. and Bombard, Y. and Aronson, M. and Bernier, F. and Brudno, M. and Carroll, J.C. and Chad, L. and Clausen, M. and Cohn, R. and Costain, G. and Dhalla, I. and Faghfoury, H. and Friedman, J. and Hewson, S. and Jamieson, T. and Jobling, R. and Laberge, A.-M. and Lerner-Ellis, J. and Liston, E. and Luca, S. and Mamdani, M. and Marshall, C. and Osmond, M. and Pham, Q. and Reble, E. and Rudzicz, F. and Seto, E. and Shastri-Estrada, S. and Shuman, C. and Silver, J. and Smith, M. and Thorpe, K. and Ungar, W.J.

Genetics providers perspectives on the use of digital tools in clinical practice

Genetics in Medicine

Lee, W. and Hirjikaka, D. and Grewal, S. and Shaw, A. and Luca, S. and Clausen, M. and Bombard, Y. and Hayeems, R.Z. and Aronson, M. and Bernier, F. and Brudno, M. and Carroll, J.C. and Chad, L. and Cohn, R. and Costain, G. and Dhalla, I. and Faghfoury, H. and Friedman, J. and Hewson, S. and Jamieson, T. and Jobling, R. and Kodida, R. and Laberge, A.-M. and Lerner-Ellis, J. and Liston, E. 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 Shuman, C. and Silver, J. and Smith, M. and Thorpe, K. and Ungar, W.J.

Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations

BMJ open

D'Amours, G. and Clausen, M. and Luca, S. and Reble, E. and Kodida, R. and Assamad, D. and Bernier, F. and Chad, L. and Costain, G. and Dhalla, I. and Faghfoury, H. and Friedman, J.M. and Hewson, S. and Jamieson, T. and Silver, J. and Shuman, C. and Osmond, M. and Carroll, J.C. and Jobling, R. and Laberge, A.-M. and Aronson, M. and Liston, E. and Lerner-Ellis, J. and Marshall, C. and Brudno, M. and Pham, Q. and Rudzicz, F. and Cohn, R. and Mamdani, M. and Smith, M. and Shastri-Estrada, S. and Seto, E. and Thorpe, K. and Ungar, W. and Hayeems, R.Z. and Bombard, Y.

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications

Nature Reviews Genetics

Rajan-Babu, I.-S. and Dolzhenko, E. and Eberle, M.A. and Friedman, J.M.

Is it time to re-think how we look for teratogenic effects in exposure cohort studies?

Paediatric and Perinatal Epidemiology

Friedman, J.M.

Health Care Costs after Genome-Wide Sequencing for Children with Rare Diseases in England and Canada

JAMA Network Open

Weymann, D. and Buckell, J. and Fahr, P. and Loewen, R. and Ehman, M. and Pollard, S. and Friedman, J.M. and Stockler-Ipsiroglu, S. and Elliott, A.M. and Wordsworth, S. and Buchanan, J. and Regier, D.A.

Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada

Genetics in Medicine

Regier, D.A. and Loewen, R. and Chan, B. and Ehman, M. and Pollard, S. and Friedman, J.M. and Stockler-Ipsiroglu, S. and van Karnebeek, C. and Race, S. and Elliott, A.M. and Dragojlovic, N. and Lynd, L.D. and Weymann, D.

Where there is no genetic counselor: An online decision-aid supports the majority of parents diagnostic genomic testing choices for their children

Genetics in Medicine

Birch, P. and Beauchesne, R. and Bansback, N. and Boelman, C. and Connolly, M. and Demos, M. and Friedman, J.M. and Race, S. and Stockler, S. and Elliott, L.M. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Adam, S. and Clarke, L. and Dragojlovic, N. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M. and Elliott, A.M.

Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?

Genetics in Medicine

Friedman, J.M. and Bombard, Y. and Carleton, B. and Issa, A.M. and Knoppers, B. and Plon, S.E. and Rahimzadeh, V. and Relling, M.V. and Williams, M.S. and van Karnebeek, C. and Vears, D. and Cornel, M.C.

A comprehensive tandem repeat catalog of the human genome

medRxiv

Chiu, R. and Rajan-Babu, I.-S. and Friedman, J.M. and Birol, I.

Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism

Npj Genomic Medicine

Friedman, J.M.

Genetics and genomics of cerebral palsy

Neurodevelopmental Pediatrics: Genetic and Environmental Influences

Friedman, J. and Karnebeek, C.

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.

Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study

Journal of Telemedicine and Telecare

Elliott, A.M. and Dragojlovic, N. and Campbell, T. and Adam, S. and Souich, C.D. and Fryer, M. and Lehman, A. and Karnebeek, C.V. and Lynd, L.D. and Friedman, J.M.

Workforce Implications of Increased Referrals to Hereditary Cancer Services in Canada: A Scenario-Based Analysis

Current Oncology

Dragojlovic, N. and Borle, K. and Kopac, N. and Nisselle, A. and Nuk, J. and Jevon, M. and Friedman, J.M. and Elliott, A.M. and Lynd, L.D.

Bob Brent: Medical expert, expert medical witness, and expert on medical expert witnessing

Birth Defects Research

Friedman, J.M.

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.

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.

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.

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.

Teratogenesis and Environmental Exposure

Creasy and Resnik S Maternal Fetal Medicine Principles and Practice

Chambers, C. and Friedman, J.M.

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.

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.

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.

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.

COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis

medRxiv

Banerjee, J. and Friedman, J.M. and Klesse, L.J. and Yohay, K. and Jordan, J.T. and Plotkin, S. and Allaway, R.J. and Blakeley, J.

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.

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.

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.

A personalized genomic results e-booklet, co-designed and pilot-tested by families

PEC Innovation

Handra, J. and Guimond, C. and Jordan, I. and Lenahan, B. and Ohs, K. and Beauchesne, R. and Adam, S. and Friedman, J.M. and Birch, P.

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.

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.

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.

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.

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.

Alterations in brain morphology by MRI in adults with neurofibromatosis 1

Orphanet Journal of Rare Diseases

Wang, S. and Mautner, V.-F. and Buchert, R. and Flibotte, S. and Suppa, P. and Friedman, J.M. and Heran, M.K.S.

White matter is increased in the brains of adults with neurofibromatosis 1

medRxiv

Wang, S. and Friedman, J.M. and Suppa, P. and Buchert, R. and Mautner, V.-F.

REViewer: Haplotype-resolved visualization of read alignments in and around tandem repeats

bioRxiv

Dolzhenko, E. and Weisburd, B. and Garikano, K.I. and Babu, I.S.R. and Bennett, M.F. and Billingsley, K. and Carroll, A. and Danzi, M.C. and Deshpande, V. and Ding, J. and Fazal, S. and Halman, A. and Jadhav, B. and Qiu, Y. and Richmond, P. and Scheffler, K. and van Vugt, J.J.F.A. and Zwamborn, R.R.A.J. and Chong, S.S. and Friedman, J.M. and Tucci, A. and Rehm, H.L. and Eberle, M.A.

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.

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.

Genetic counseling research and COVID-19: A lesson in resiliency

Journal of Genetic Counseling

Borle, K. and Dey, A. and Carrion, P. and Austin, J. and Elliott, A.M. and Knoppers, B. and Lynd, L.D. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M. and Myers, M.

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 Frbourg, 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 Lzaro, 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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

Renpenning syndrome in a female

American Journal of Medical Genetics, Part A

Cho, R.Y. and Peaherrera, 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.

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-Bnjean, 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 Olivi, 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 unap, K. and Filiano, J.J. and Smol, T. and Piton, A. and Grard, B. and Chantot-Bastaraud, S. and Bienvenu, T. and Li, D. and Juusola, J. and Devriendt, K. and Bilan, F. and Po, C. and Chevarin, M. and Jouan, T. and Tisserant, E. and Rivire, 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.

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.

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.

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.

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.

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.

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.

Exome Sequencing and Clinical Diagnosis

JAMA - Journal of the American Medical Association

Friedman, J.M. and Jones, K.L. and Carey, J.C.

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.

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.

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.

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.

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 Drgemller, 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.

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.

Genome-wide sequencing in acutely ill infants: genomic medicines 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.

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.

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 Lgar, F.

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.

Neurofibromatosis 1

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

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.

Assessment of case reports and clinical series

Handbook of Developmental Neurotoxicology

Friedman, J.M.

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.

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.

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.

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.

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.

The importance of genetic counselling in genome-wide sequencing

Nature Reviews Genetics

Elliott, A.M. and Friedman, J.M.

Key implications of data sharing in pediatric genomics

JAMA Pediatrics

Rahimzadeh, V. and Schickhardt, C. and Knoppers, B.M. and Sncal, 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.

Introduction

Handbook of Developmental Neurotoxicology

Friedman, J.M.

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 Sncal, K. and Vears, D.F.

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.

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.

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.

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.

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.

Editorial In Bed with The Devil: Recognizing Human Teratogenic Exposures

Birth Defects Research

Friedman, J.M.

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.

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.

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.

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.

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.

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.

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.

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.

Safety of Selective Serotonin Reuptake Inhibitors in Pregnancy: A Review of Current Evidence

CNS Drugs

Alwan, S. and Friedman, J.M. and Chambers, C.

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.

Individual DNA samples and health information sold by 23andMe

Genetics in Medicine

Adam, S. and Friedman, J.M.

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 Drgemller, 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.

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.

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.

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.

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.

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.

Antineoplastic drugs

Drugs During Pregnancy and Lactation: Treatment Options and Risk Assessment: Third Edition

Friedman, J.M. and Weber-Schndorfer, C.

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.

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.

Genetic mosaics and the germ line lineage

Genes

Samuels, M.E. and Friedman, J.M.

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.

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.

Exome sequencing for gene discovery in lethal fetal disorders - harnessing the value of extreme phenotypes

Prenatal Diagnosis

Filges, I. and Friedman, J.M.

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.

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.

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.

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

Cancer Discovery

Sawyer, S.L. and Tian, L. and Khknen, 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.

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.

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.

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.

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.

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.

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.

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 Rivire, 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.

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.

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.

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.

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 Hon, 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.

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.

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 Peaherrera, M.S. and McFadden, D.E. and Louie, K. and Nosova, E. and Friedman, J.M. and Robinson, W.P.

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)

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.

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.

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.

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 Rthlisberger, B. and Heinimann, K. and Hall, J.G. and Gregory-Evans, C.Y. and Wasserman, W.W. and Miny, P. and Friedman, J.M.

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.

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.

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.

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.

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.

Clinical Teratology

Emery and Rimoin's Principles and Practice of Medical Genetics

Friedman, J.M. and Hanson, J.W.

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.

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 densit osseuse chez les patients porteurs d'une neurofibromatose 1: Une tude clinique rtrospective

Revue Du Rhumatisme Edition Francaise

Schnabel, C. and Jett, K. and Friedman, J.M. and Frieling, I. and Kruse, H.-P. and Mautner, V.

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.

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 Clment, V. and Langlois, S. and Friedman, J.M. and Rousseau, F.

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.

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.

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.

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.

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.

Valuing gene testing in children with possible neurofibromatosis 1

Clinical Genetics

Tsang, E. and Birch, P. and Friedman, J.M.

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.

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.

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.

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.

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.

"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.

OTIS special issue preface

Birth Defects Research Part A - Clinical and Molecular Teratology

Chambers, C. and Friedman, J.M.

Molecular basis of cardiovascular abnormalities in NF1

Neurofibromatosis Type 1: Molecular and Cellular Biology

Stansfield, B.K. and Ingram, D.A. and Conway, S.J. and Friedman, J.M.

Quality of life in NF1

Neurofibromatosis Type 1 Molecular and Cellular Biology

Birch, P. and Friedman, J.M.

ABCDXXX: The obscenity of postmarketing surveillance for teratogenic effects

Birth Defects Research Part A - Clinical and Molecular Teratology

Friedman, J.M.

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.

Reply

American Journal of Obstetrics and Gynecology

Broussard, C.S. and Rasmussen, S.A. and Friedman, J.M.

Massively Parallel Sequencing

Molecular Analysis and Genome Discovery: Second Edition

Tucker, T. and Marra, M. and Friedman, J.M.

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.

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.

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.

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.

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.

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 Chnard, C. and Friedman, J.M. and Suttle, C.A. and Zhao, Y. and Holt, R.A.

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.

Emerging issues in teratology: An introduction

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Rasmussen, S.A. and Friedman, J.M.

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.

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 Chnier, 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.

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.

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.

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.

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.

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.

Duplications of the critical Rubinstein - Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Journal of Medical Genetics

Thienpont, B. and Bna, 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.

The principles of teratology: are they still true?

Birth defects research. Part A, Clinical and molecular teratology

Friedman, J.M.

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.

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.

Clinical and genetic aspects of neurofibromatosis 1

Genetics in Medicine

Jett, K. and Friedman, J.M.

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.

Perceptions of genetic discrimination among people at risk for Huntingtons 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.

Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine

American Journal of Human Genetics

Tucker, T. and Marra, M. and Friedman, J.M.

High-resolution array genomic hybridization in prenatal diagnosis

Prenatal Diagnosis

Friedman, J.M.

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.

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 Fnsterer, C. and Mautner, V.-F.

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.

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.

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.

Big risks in small groups: The difference between epidemiology and counselling

Birth Defects Research Part A - Clinical and Molecular Teratology

Friedman, J.M.

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.

Safety of selective serotonin reuptake inhibitors in pregnancy

CNS Drugs

Alwan, S. and Friedman, J.M.

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.

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.

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.

Umbilical dysmorphology. The importance of contemplating the Belly Button

Clinical Genetics

J. M. Friedman

04 / 2008

Familial carcinoma of the pancreas

Clinical Genetics

J. M. Friedman and Philip J. Fialkow

04 / 2008

The use of probability trees in genetic counselling

Clinical Genetics

J. M. Friedman and R. David Fish

04 / 2008

Genetic counseling for autosomal dominant diseases with a negative family history

Clinical Genetics

J. M. Friedman

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.

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.

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.

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 Fnsterer, C. and Kluwe, L. and Wenzel, R. and Widemann, B.C. and Friedman, J.M.

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

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.

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.

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.

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 Gdde, 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.

Pregnancy and postnatal outcome of mosaic isochromosome 20q

Prenatal Diagnosis

W. P. Robinson and B. McGillivray and J. M. Friedman

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

ACE inhibitors and congenital anomalies

New England Journal of Medicine

Friedman, J.M.

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.

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.

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.

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.

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.

Increasing the specificity of diagnostic criteria for schwannomatosis

Neurology

Baser, M.E. and Friedman, J.M. and Evans, D.G.R.

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.

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.

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.

Reproduction and transplantation: Report on the AST Consensus Conference on Reproductive Issues and Transplantation

American Journal of Transplantation

McKay, D.B. and Josephson, M.A. and Armenti, V.T. and August, P. and Coscia, L.A. and Davis, C.L. and Davison, J.M. and Easterling, T. and Friedman, J.M. and Hou, S. and Karlix, J. and Lake, K.D. and Lindheimer, M. and Matas, A.J. and Moritz, M.J. and Riely, C.A. and Ross, L.F. and Scott, J.R. and Wagoner, L.E. and Wrenshall, L. and Adams, P.L. and Bumgardner, G.L. and Fine, R.N. and Goral, S. and Krams, S.M. and Martinez, O.M. and Tolkoff-Rubin, N. and Pavlakis, M. and Scantlebury, V.

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.

Analysis of NF1 transcriptional regulatory elements

American Journal of Medical Genetics

Lee, T.K. and Friedman, J.M.

Addendum: Sartan treatment during pregnancy

Birth Defects Research Part A - Clinical and Molecular Teratology

Alwan, S. and Polifka, J.E. and Friedman, J.M.

Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?

Clinical Genetics

Alwan, S. and Tredwell, S.J. and Friedman, J.M.

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.

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.

Decreased bone mineral density in patients with neurofibromatosis 1

Osteoporosis International

Lammert, M. and Kappler, M. and Mautner, V.-F. and Lammert, K. and Strkel, S. and Friedman, J.M. and Atkins, D.

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 Lzaro, C. and Joncourt, F. and Parry, D.M. and Rouleau, G.A. and Evans, D.G.R.

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.

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

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.

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.

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.

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

Communicating Risks during Pregnancy: A Workshop on the Use of Data from Animal Developmental Toxicity Studies in Pregnancy Labels for Drugs

Birth Defects Research Part A - Clinical and Molecular Teratology

Scialli, A.R. and Buelke-Sam, J.L. and Chambers, C.D. and Friedman, J.M. and Kimmel, C.A. and Polifka, J.E. and Tassinari, M.S.

Genotype-phenotype correlations for cataracts in neurofibromatosis 2

Journal of Medical Genetics

M E Baser

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

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

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

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

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.

Implications of research in male-mediated developmental toxicity to clinical counsellors, regulators, and occupational safety officers

Advances in Experimental Medicine and Biology

Friedman, J.M.

Patterns of associations of clinical features in neurofibromatosis 1 (NF1)

Human Genetics

Szudek, J. and Evans, D.G. and Friedman, J.M.

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 Dhner, H. and Dhner, 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.

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.

Patterns of associations of clinical features in neurofibromatosis1 (NF1)

Human Genetics

Szudek, Jacek and Evans, D. Gareth and Friedman, Jan M.

Pathogenesis of hereditary tumors: beyond the two-hit hypothesis

Clinical Genetics

T Tucker and JM Friedman

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

10 / 2002

Teratogenicity of Recently Introduced Medications in Human Pregnancy

Obstetrics & Gynecology

W. Y. Lo and J. M. Friedman

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

09 / 2002

Unidentified bright objects associated with features of neurofibromatosis 1

Pediatric Neurology

Jacek Szudek and J.M Friedman

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

06 / 2002

Vertebral scalloping in neurofibromatosis 1: A quantitative approach

Canadian Journal of Surgery

Kwok, E. S. H., Sawatzky, B., Birch, P., Friedman, J. M., & Tredwell, S. J. (2002). Vertebral scalloping in neurofibromatosis type 1: a quantitative approach. Canadian Journal of Surgery, 45(3), 181"184.

06 / 2002

Teratogen update: Azathioprine and 6-mercaptopurine

Teratology

Janine E. Polifka and J.M. Friedman

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

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.

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.

Medical genetics: 1. Clinical teratology in the age of genomics

CMAJ. Canadian Medical Association Journal

Polifka, J.E. and Friedman, J.M.

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.

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.

Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1)

Genetic Epidemiology

Szudek, J. and Joe, H. and Friedman, J.M.

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

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.

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.

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.

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.

Neurofibromatosis 1: Clinical manifestations and diagnostic criteria

Journal of Child Neurology

Friedman, J.M.

Do geneticists need Babel fish?

Genetics in Medicine

Friedman, J.M.

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.

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

Insights into the pathogenesis of neurofibromatosis 1 vasculopathy

Clinical Genetics

SJ Hamilton and JM Friedman

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

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.

Kabuki syndrome in a Haitian patient [2]

American Journal of Medical Genetics

Hamilton, S.J. and Allard, M.F. and Friedman, J.M.

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

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-Sbastien Brunet and Steven A. Narod

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.

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.

Use of 'unidentified bright objects' on MRI for diagnosis of neurofibromatosis 1 in children [3] (multiple letters)

Neurology

Friedman, J.M. and Szudek, J.

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.

Growth in North American white children with neurofibromatosis 1 (NF1)

Journal of Medical Genetics

J Szudek

Teratology society: Presentation to the FDA public meeting on safety issues associated with the use of dietary supplements during pregnancy

Teratology

Friedman, J.M.

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.

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.

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.

NF1 gene and neurofibromatosis 1

American Journal of Epidemiology

Rasmussen, S.A. and Friedman, J.M.

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

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

04 / 1999

Epidemiology of neurofibromatosis type 1

American Journal of Medical Genetics

J.M. Friedman

03 / 1999

Clinical teratology: identifying teratogenic risks in humans

Clinical Genetics

Janine E Polifka and Jm Friedman

Teratology Society 1998 Public Affairs Committee Symposium, San Diego, California, USA, 21 June 1998: The new thalidomide era: Dealing with the risks

Teratology

Friedman, J.M. and Kimmel, C.A. and Brinkrant, D. and Williams, B. and Fost, N. and Warren, R.

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.

Duty to re-contact: A study of families at risk for fragile X

Genetic Counseling

Bernard LE, McGillivray B, Van Allen MI, Friedman JM, Langlois S. Duty to re-contact: A study of families at risk for fragile X. J. Genetic Counseling 8:3-15, 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

02 / 1998

One Fewer Worry for Survivors of Childhood Cancer

The American Journal of Human Genetics

J.M. Friedman

01 / 1998

Clinical objectives in medical genetics for undergraduate medical students

Genetics in Medicine

Metabolism of fatty acids and glucose [2] (multiple letters)

Circulation

Kessler, G. and Friedman, J. and Apstein, C.S. and Taegtmeyer, H.

Genetics in Medicine and informatics for the genetic clinician

Genetics in Medicine

Jan M Friedman

Association of professors of human or medical genetics: Second annual workshop summary

American Journal of Medical Genetics

J. M. Friedman

10 / 1997

Teratology society consensus statement on use of folic acid to reduce the risk of birth defects

Teratology

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

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

04 / 1997

Chromosome abnormalities in human beings

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

Deborah E McFadden and J.M Friedman

Genetics and epidemiology, congenital anomalies and cancer

American Journal of Human Genetics

Friedman, J.M.

Association of professors of human or medical genetics: Summary of first annual workshop

American Journal of Medical Genetics

J.M. Friedman

10 / 1996

Clinical teratology counseling and consultation report: High dose -carotene use during early pregnancy

Teratology

Janine E. Polifka and Cynthia R. Dolan and Michael A. Donlan and J. M. Friedman

06 / 1996

Therapeutic teratology: The 1996 teratology society public affairs symposium

Teratology

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

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.

Medical school core curriculum in genetics [6]

American Journal of Human Genetics

Hayflick, S.J. and Friedman, J.M.

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

10 / 1994

FDA classification of drugs for teratogenic risk: Teratology society public affairs committee

Teratology

06 / 1994

A reevaluation of risk of in utero exposure to lithium

JAMA: The Journal of the American Medical Association

L. S. Cohen

01 / 1994

Physician and Patient Education

Male-Mediated Developmental Toxicity

Jan M. Friedman

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.

Recommendations on the use of folic acid supplementation to prevent the recurrence of neural tube defects

Canadian Medical Association Journal

Van Allen MI, Fraser FC, Dallaire L, Allanson J, McLeod DR, Andermann E, Friedman JM. Recommendations on the use of folic acid and supplementation to prevent the recurrence of neural tube defects. Can Med Assoc J 149:1239-1243, 1993.

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

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

09 / 1993

Report of the Teratology Society Public Affairs Committee symposium on FDA classification of drugs

Teratology

J. M. Friedman

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

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.

Complementary duplication and deletion of 17 (pcenp11.2): 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

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

Gorski, S. M., Adams, K. J., Birch, P. H., Friedman, J. M., & Goodfellow, P. J. (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, 50(5), 1129"1136.

05 / 1992

The use of dysmorphology in birth defects epidemiology

Teratology

J. M. Friedman

02 / 1992

Williams syndrome in adults

American Journal of Medical Genetics

Lopez-Rangel, E. and Maurice, M. and McGillivray, B. and Friedman, J.M.

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

Gorski, S.M. and Adams, K.J. and Birch, P.H. and Friedman, J.M. and Goodfellow, P.J.

Effects of drugs and other chemicals on fetal growth

Growth, Genetics and Hormones

Friedman JM. Effects of drugs and other chemicals on fetal growth. Growth, Genetics and Hormones 8(4):1-5, 1992.

Teratogenic effects of "recreational" drugs

Canadian Family Physician

Polifka, J. E., & Friedman, J. M. (1991). Teratogenic Effects of `Recreational Drugs: Increasing the risk of congenital anomalies. Canadian Family Physician, 37, 1953"1962.

09 / 1991

Life-Threatening Status Asthmaticus at 12.5 Weeks Gestation

Chest

Dawna M. Gilchrist and Jan M. Friedman and Denise Werker

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

01 / 1991

ASHG/NSGC activities related to education: Workshop on human genetics education

American Journal of Human Genetics

Friedman, J.M. and Blitzer, M.

Eugenics and the 'new genetics'

Perspectives in Biology and Medicine

Friedman, J.M.

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.

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.

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

08 / 1990

Maternal serum a-fetoprotein in pregnancy

American Journal of Obstetrics and Gynecology

Dawna M. Gilchrist and Jan M. Friedman and R. Doug Wilson

08 / 1990

Interpreting chromosomal abnormalities using Prolog

Computers and Biomedical Research

Glen Cooper and J.M. Friedman

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

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

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

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

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

03 / 1990

A practical approach to dysmorphology.

Pediatric annals

Friedman, J.M.

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

06 / 1989

Teratogenesis and IV cyclophosphamide

Journal of Rheumatology

Gilchrist, D.M. and Friedman, J.M. and Kirshon, B.

Encephalocraniocutaneous lipomatosis: Two case reports and a review of the literature

Neurofibromatosis

Bamforth JSG, Riccardi VM, Thiessen P, Chitayat D, Friedman JM, Caruthers J, Hall JG. Encephalocraniocutaneous lipomatosis: Two case reports and a review of the literature. Neurofibromatosis 2:166-173, 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.

Analysing rearrangement breakpoint distributions by means of binomial confidence intervals

Annals of Human Genetics

VASARHELYI, K. and FRIEDMAN, J.M.

Teratogens and IV cyclophosphamide

Journal of Rheumatology

Gilchrist DM, Friedman JM. Teratogens and IV cyclophosphamide. J Rheumatol 16:1008-1009, 1989.

Clinical, genetic and epidemiological factors in neural tube defects

American Journal of Human Genetics

Hall, J. G., Friedman, J. M., Kenna, B. A., Popkin, J., Jawanda, M., & Arnold, W. (1988). Clinical, genetic, and epidemiological factors in neural tube defects. American Journal of Human Genetics, 43(6), 827"837.

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

05 / 1988

Anesthetic agents

Teratology

J. M. Friedman

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.

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.

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

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

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.

Teratogens and growth

Growth, Genetics and Hormones

Friedman JM. Teratogens and growth. Growth, Genetics and Hormones 3(4):6-8, 1987.

Prevalence of Coxsackie B virus antibodies in patients with juvenile dermatomyositis

Arthritis & Rheumatism

MARY L. Christensen and Lauren M. Pachman and Richard Schneiderman and Devendrakumar C. Patel and Jan M. Friedman

11 / 1986

Severe craniofacial sclerosis with multiple anomalies in a boy and his mother

Pediatric Radiology

G. Currarino and J. M. Friedman

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

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

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

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

Unaffected carrier males in families with fragile X syndrome

American Journal of Human Genetics

Howard-Peebles PN, Friedman JM. Unaffected carrier males in families with fragile X syndrome. Amer J Hum Genet 37:956-964, 1985.

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

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

02 / 1985

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

Blood

Friedman, JM and Aster, RH

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.

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.

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

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

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

06 / 1984

Early prenatal ultrasonic findings in klippel"trenaunay"weber syndrome

Prenatal Diagnosis

Muhieddine Seoud and Rigoberto Santos-Ramos and J. M. Friedman

05 / 1984

Does agent orange cause birth defects?

Teratology

J. M. Friedman

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.

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

02 / 1983

Can maternal alcohol ingestion cause neural tube defects?

The Journal of Pediatrics

J.M. Friedman

08 / 1982

Genetic Misconceptions

Southern Medical Journal

J. M. FRIEDMAN and MARY JO E. HARROD

01 / 1982

Hemifacial microsomia in cri-du-chat (5p-) syndrome

Journal of Craniofacial Genetics and Developmental Biology

Neu KW, Friedman JM, Howard-Peebles PN. Hemifacial microsomia in cri-du-chat (5p-) syndrome. J Cranio Genet 2:295-298, 1982.

Probable Clonal Origin of Neurofibrosarcoma in a Patient With Hereditary Neurofibromatosis23

JNCI: Journal of the National Cancer Institute

Friedman, Jan M. and Fialkow, Philip J. and Greene, Claudia L. and Weinberg, Michael N.

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.

Prenatal diagnosis of birth defects and the "right to life"

Perinatology-Neonatology

Friedman JM. Prenatal diagnosis of birth defects and the "right to life". Perinatology-Neonatology 6:13, 104, 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.

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.

Genetic disease in the offspring of "older" fathers

Obstetrics & Gynecology

Friedman JM. Genetic disease in the offspring of "older" fathers. Obstet Gynecol 57:745-749, 1981.

06 / 1981

Genetic disease in the offspring of older fathers

Obstetrics and Gynecology

Friedman, J.M.

Binary developmental commitments in normal and abnormal human morphogenesis

Clinical Genetics

J. M. Friedman

04 / 1980

The genetics of diabetes mellitus

Progress in Medical Genetics

Friedman JM, Fialkow PJ. The genetics of diabetes mellitus. Prog Med Genet 4:199-232, 1980.

The genetics of diabetes mellitus.

Progress in medical genetics

Friedman, J.M. and Fialkow, P.J.

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

07 / 1979

Rapidly adhering amniotic-fluid cells and prenatal diagnosis of neural tube defects

The Lancet

M HARROD

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

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

10 / 1978

Studies of the HLA Complex in Families of Children with Congenital Heart Disease

Tissue Antigens

J. M. Friedman and M. H. Paul

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

04 / 1978

The genetics of Graves' disease

Clinics in Endocrinology and Metabolism

J.M. Friedman and Philip J. Fialkow

03 / 1978

HLA-B8 in juvenile dermatomyositis

The Lancet

LaurenM Pachman and Olga Jonasson and RobertA Cannon and J.M Friedman

09 / 1977

Autoimmunity in the relatives of patients with immunodeficiency diseases

Clinical & Experimental Immunology

Friedman JM, Fialkow PJ, Davis SD, Ochs HD, Wedgwood RJ. Autoimmunity in the relatives of patients with immunodeficiency diseases. Clin Exp Immunol 28:375-388, 1977.

06 / 1977

INCREASED FREQUENCY OF HLA-B8 IN JUVENILE DERMATOMYOSITIS

The Lancet

Pachman, L. and Jonasson, O. and Cannon, R. and Friedman, J.M.

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

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.

Inheritance of susceptibility to histocompatibility associated disease

The Lancet

J.M. Friedman

01 / 1976

Viral Tumorigenesis in man: Cell markers incondylomata acuminata

International Journal of Cancer

J. M. Friedman and Philip J. Fialkow

01 / 1976

Cell Marker Studies of Human Tumorigenesis

Immunological Reviews

J. M. Friedman and Philip I. Fialkow

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.

Carcinoma of the pancreas in four brothers

Birth Defects: Original Article Series

Friedman, J.M. and Fialkow, P.J.

Jeune syndrome in an adult

Birth Defects: Original Article Series

Friedman, J.M. and Kaplan, H. and Hall, J.G.

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.

Trisomy-21 in mother and child: Report of a case

Obstetrics and gynecology

M Friedman, J and H Sternberg, W and Varela, M and L Barclay, D

12 / 1970

Developmental Toxicology and Teratology

Protocols for High-Risk Pregnancies

James W. Hanson and Jan M. Friedman