Vancouver, BC V6H 3N1
Research Interests: Use of genomic and bioinformatics tools to identify genetic causes of human disease. I am a medical geneticist, and my research bridges clinical genetics and basic science. Our work is focused on using new genomic technology and bioinformatics tools to identify mutations that cause intellectual disability and other neurodevelopmental disorders, and in applying what we learn to improve the clinical care of affected individuals and their families.
Selected Publications:
2020
Anderson KN, Ailes EC, Lind JN, Broussard CS, Bitsko RH, Friedman JM, Bobo WV, Reefhuis J, Tinker SC. Atypical Antipsychotic Use during Pregnancy and Birth Defect Risk: National Birth Defects Prevention Study, 1997-2011. Schizophr Res 215:81-88, 2020.
Cho RY, Peñaherrera MS, Du Souich C, Huang L, Mwenifumbo J, Nelson TN, Elliott AE, Adam S, CAUSES Study, Eydoux P, Yang GX, Chijiwa C, Van Allen MI, Friedman JM, Robinson WP, Lehman A. Renpenning Syndrome in a Female. Am J Med Genet A 182(3):498-503, 2020.
Dragojlovic N, Borle K, Kopac N, Ellis U, Birch P, Adam S, Friedman JM, Nisselle A; GenCOUNSEL Study, Elliott AM, Lynd LD. The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review. Genet Med. 2020 Jun 24. doi: 10.1038/s41436-020-0825-2. Online ahead of print.
Dragojlovic N, van Karnebeek CDM, Ghani A, Genereaux D, Kim E, Birch P, CAUSES Study, Elliott AM, Friedman JM, Lynd LD. The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders. Genet Med 22(2):292-300, 2020.
Kollmann P, Mautner VF, Koeppen J, Wenzel R, Friedman JM, Salamon J, Farschtschi S. MRI based volumetric measurements of vestibular schwannomas in patients with neurofibromatosis type 2: comparison of three different software tools. Sci Rep 10(1):11541, 2020.
Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 143(1):55-68, 2020.
2019
Adam S, Birch PH (co-first authors), Coe RR, Bansback N, Jones AL, Connolly MB, Demos MK, Toyota EB, Farrer MJ, Friedman JM. Assessing an interactive online tool to support parents’ genomic testing decisions. J Genet Couns 28:10-17, 2019.
Birch PH, Adam S, Coe RR, Port AV, Vortel M, Friedman JM, Légaré F. Assessing shared decision-making clinical behaviours among genetic counsellors. J Genet Couns 28:40-9, 2019.
Brodehl A, Rezazadeh S, Williams T, Munsie NM, Liedtke D, Oh T, Ferrier R, Sheng Y, Jones SJM, Stiegler AL, Boggon TJ, Duff HJ, Friedman JM, Gibson WT, FORGE Canada Consortium, Childs SJ, Gerulla B. Mutations in ILK, encoding integrin linked kinase, are associated with arrhythmogenic cardiomyopathy. Transl Res 208:15-29, 2019.
Elliott AM, du Souich C, Lehman A, Guella I, Evans DM, Candido T, Tooman L, Armstrong L, Clarke L, Gibson W, Gill H, Lavoie PM, Lewis S, McKinnon ML, Nikkel SM, Patel M, Solimano A, Synnes A, Ting J, van Allen M, Christilaw J, Farrer MJ, Friedman JM, Osiovich H. RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges. Eur J Pediatr. 2019 178(8):1207-1218, 2019.
Friedman JM, Bombard Y, Cornel MC, Fernandez CV, Junker AK, Plon SE, Stark Z, Knoppers BM, for the Paediatric Task Team of the Global Alliance for Genomics and Health Regulatory and Ethics Work Stream. Genome-wide sequencing in acutly-ill infants: Genomic medicine’s critical application? Genet Med 21(2):498-504, 2019.
Haijes HA, de Sain-van der Velden MGM, Prinsen HCMT, Willems AP, van der Ham M, Gerrits J, Couse MH, Friedman JM, van Karnebeek CDM, Selby KA, van Hasselt PM, Verhoeven-Duif NM, Jans JJM. Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation. Mol Genet Matab 127(4):368-372, 2019.
Horvath G, Tarailo-Graovac M, Zahir F, Zivkovic I, Moksa M, Selby K, Sinha S, Nislow C, Stockler S, Sheffer R, Saada A, Friedman JM, van Karnebeek, C. De novo pathogenic DNM1L variant in a patient diagnosed with atypical sensory autonomic neuropathy. Mol Genet Genomic Med 7(10): e00961, 2019. Doi: 10.1002/mgg3.961.
Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, van Roermund CWT, Kernohan KD, Ciapaite J, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium, Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM. PLPHP deficiency: Clinical, genetic, biochemical, and mechanistic insights. Brain 142(3):542-559, 2019.
Yasin H, Gibson WT, Langlois S, Stowe RM, Tsang ES, Lee L, Poon J, Tran G, Tyson C, Wong CK, Marra MA, Friedman JM, Zahir FR. A Distinct Neurodevelopmental Syndrome with Intellectual Disability, Autisum Spectrum Disorder, Characteristic Facies and Macrocephaly is caused by defects in CHD8. J Hum Genet 64(4):271-280, 2019.
Ye XC, van der Lee R, Wasserman WW, CAUSES Study, Friedman JM, Lehman A. Strabismus in Children with Intellectual Disability: Part of a Broader Motor Control Phenotype? Pediatr Neurol 100:87-91, 2019.
2018
Chohan H, Esfandiarei M, Arman D, Van Raamsdonk CD, van Breemen C, Friedman JM, Jett KA. Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1. PLOS One 13(12):e0208835, 2018.
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 20(9):1013-1201, 2018.
Dragojlovic N, Kim E, Elliott AM, CAUSES Study, Friedman JM, Lynd LD. Evaluating the use of parental reports to estimate healthcare resource utilization in children with suspected genetic disorders. J Eval Clin Pract 24(2):416-422, 2018.
Elliott AM, du Souich C, Adam S, Dragojlovic N, van Karnebeek C, Nelson TN, Lehman A, The CAUSES Study, Lynd L, Friedman JM: The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia. Mol Genet Genomic Med 6:592-600, 2018.
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 Implications of Data Sharing in pediatric genomics: Points to consider for KIDS. JAMA Pediatrics 172(5):476-481, 2018.
Sellmer L, Farschtschi S, Marangoni M, Heran MKS, Birch P, Wenzel R, Mautner V-F, Friedman JM. Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1. Orphanet J Rare Dis 13:62, 2018.