Department of Medical Genetics, University of British Columbia
Medical Genetics Research Unit
Children’s & Women’s Hospital
Rm C333
4500 Oak Street
Vancouver, BC V6H 3N1

Research Interests: Clinical applications of genomic technology; birth defects epidemiology and clinical teratology; clinical studies of neurofibromatosis.

I am a medical geneticist, and my research bridges clinical genetics and basic science. Our work is focused in three major areas: (1) using advanced genomic technology to identify genetic causes of intellectual disability and other birth defects; (2) recognizing the harmful effects of medications taken by a pregnant woman on her developing embryo or fetus; and (3) studying the natural history and pathogenesis of neurofibromatosis 1, a clinically variable multisystem autosomal dominant disease.

Selected Publications:

In Press

Rahimzadeh V, Schickhardt C, Knoppers BM, Sénécal K, Vears DF, Fernandez CV, Pfister S, Plon S, Clayton EW, Terry S, Williams J, Williams MS, Cornel M, Friedman JM, Paediatric Task Team of the Global Alliance for Genomics in Health Regulatory and Ethics Working Group. Key Implcations of Data Sharing in pediatric genomics: Points to consider for KIDS. JAMA Pediatrics (in press)

Dragojlovic N, Elliott AM, Adam S, van Karnebeek C, Lehman A, Mwenifumbo JC, Nelson TN, du Souich C, CAUSES Study, Friedman JM, Lynd LD. The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: A benchmarking study. Genet Med (in press).

Dragojlovic N, Kim E, Elliott AM, CAUSES Study, Friedman JM, Lynd LD. Evaluating the use of parental reports to estimate healthcare resourse utilization in children with suspected genetic disorders. J Eval Clin Pract (in press).


Ostrow KL, Bergner AL, Blakeley J, Evans G, Ferner R, Friedman JM, Harris G, Korf B, Langmead S, Leschziner G, Mautner V, Merker V, Papi L, Plotkin S, Slopis JM, Smith M, Stemmer-Rachamimov A, Yohay K, Belzberg AJ. Creation of an International Registry to Support Discovery in Schwannomatosis. Amer J Med Genet A (In press).

Sellmer L, Farschtschi S, Marangoni M, Heran MKS, Birch PH, Wenzel R, Friedman JM, Mautner V-F. Non-optic glioma in adults and children with neurofibromatosis 1. Orphanet J Rare Dis (in press).


Chitty LS*, Friedman JM*, Langlois S (* equal contribution). Current Controversies in Prenatal Diagnosis: Should a fetal exome be used in the assessment of a dysmorphic or malformed fetus? Prenat Diagn 36(1):15-9, 2016.

Ning X, Farschtschi S, Jones A, Kehrer-Sawatzki H, Mautner V-F, Friedman JM. Growth in Neurofibromatosis 1 Microdeletion Patients. Clin Genet 89(3):351-4, 2016.

Adam S, Friedman JM. Individual DNA samples and health information sold by 23andMe. Genet Med 18(4):305-6, 2016.

Hasle H, Friedman JM, Olsen JH, Rasmussen SA. Low risk of solid tumors in persons with Down syndrome. Genet Med 18(11):1151-7, 2016.

Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang L-H, Bhavsar AP, Lee JJY, Drögemöller BI, Abdelsayed M, Alfadhel, M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne, J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD. Exome sequencing and the management of neuro-metabolic disorders. N Engl J Med 374(23):2246-55, 2016.

Li KC, Birch PH, Garrett B, MacPhee M, Adam S, Friedman JM. Parents’ perspectives on supporting their decision making in genome-wide sequencing. J Nurs Scholarsh 48(3):265-75, 2016.

Votel M, Adam S, Port-Thompson AV, Friedman JM, Grande SW, Birch PH. Comparing the ability of OPTION12 and OPTION5 to assess shared decision making in genetic counseling. Patient Educ Couns 99(10):1717-23, 2016.

Zahir F, Tucker T, Mayo de Andrés S, Brown CJ, Taylor J, Lim EL, Marra MA, Hamdan FF, Michaud J, Friedman JM. Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes. Amer J Med Genet A 170A:2916-26, 2016.

Birch PH, Adam S, Bansback N, Coe RR, Hicklin J, Lehman A, Li KC, Friedman JM. DECIDE: A decision support tool to facilitate parents’ choices regarding genome-wide sequencing. J Genet Couns 25(6):1298-1308, 2016.
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Alwan S, Friedman JM, Chambers C. Safety of Selective Serotonin Reuptake Inhibitors in Pregnancy: A Review of Current Evidence. CNS Drugs. 30(6):499-515, 2016.


Filges I, Manokhina I, Peñaherrera MS, McFadden DE, Louie K, Nosova E, Friedman JM, Robinson WP. Recurrent triploidy due to a failure to complete maternal Meiosis II: whole exome sequencing reveals candidate mutations. Molec Human Reprd 21(4):339-46, 2015.

Jett K, Nguyen R, Arman, D, Birch P, Chohan H, Farschtschi S, Fuensterer C, Kluwe L, Friedman JM, Mautner VF. Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumours in neurofibromatosis 1. Am J Med Genet A 167(7):1518-24, 2015.

Samuels ME, Friedman JM. Genetic mosaics and the germ line lineage. Genes 6(2):216-37, 2015.

Reefhuis J, Devine O, Friedman JM, Louik C, Honein MA and the National Birth Defects Prevention Study. Specific SSRIs and birth defects: Interpreting new data in the context of previous reports. BMJ 351:h3190, 2015.

Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers BM, Laberge AM, Majewski J, Mendoza-Londono R, Meyn MS, Michaud JL, Nelson TN, Richer J, Sadikovic B, Skidmore DL, Stockley T, Taylor S, van Karnebeek C, Zawati MH, Lauzon J, Armour CM; Canadian College of Medical Geneticists. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. J Med Genet 52(7):431-7, 2015.

Hexter A, Jones A, Joe H, Heap L, Smith MJ, Wallace AJ, Halliday D, Parry A, Taylor A, Raymond L, Shaw A, Afridi S, Obholzer R, Axon P, King AT, The English Specialist NF2 Research Group, Friedman JM, Evans DG. Clinical and Molecular Predictors of Mortality in Neurofibromatosis 2: A United Kingdom National Analysis of 1192 Patients. J Med Genet 52(10):699-705, 2015.

Filges I, Friedman JM. Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes. Prenat Diagn 35(10):1005-9, 2015.