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About Sickkids
About SickKids

Ryan Yuen, PhD

Research Institute
Scientist
Genetics & Genome Biology

University of Toronto
Assistant Professor
Department of Molecular Genetics


Phone: 416-813-7654 ext. 301022 or 309663 (lab)
Email: ryan.yuen@sickkids.ca

Brief Biography

  • Postdoctoral Fellow: Genetics & Genome Biology, The Hospital for Sick Children
  • PhD: Medical Genetics, University of British Columbia
  • M.Phil: Chemical Pathology, Chinese University of Hong Kong

Research Interests

  • Human genetics
  • Epigenetics
  • Complex diseases
  • Rare diseases

Research Activities

  • Characterizing the genetic architectures of neurodevelopmental and neurological disorders
  • Developing disease gene discovery strategies for effective diagnostic and treatment approaches
  • Understanding the origins and effects of human genetic and epigenetic variation
  • Integrative analysis of genetics and epigenetics in complex disorders

Publications

Yuen RKC, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW. (2017). Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nature Neuroscience. Apr;20(4):602-611.

Yuen RKC*†, Merico D*, Cao H*, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D,  Zhang T, Wu X, Jin X, Zhou Z, Liu X, Nalpathamkalam T, Walker S, Howe JL, Wang Z, MacDonald JR, Chan A, D’Abate L, Deneault E, Siu MT, Tammimies K, Uddin M, Zarrei M, Wang M, Li Y, Wang J, Wang J, Yang H, Bookman M, Bingham J, Gross SS, Loy D, Pletcher M, Marshall CR, Anagnostou E, Zwaigenbaum L, Weksberg R, Fernandez BA, Roberts W, Szatmari P, Glazer D, Frey BJ, Ring RH†, Xu X†, Scherer SW†. (2016). Genome-wide characteristics of de novo mutations in autism. NPJ Genomic Medicine. Aug 3;1:160271-1602710. *Equal contribution. †Co-correspondence.

Merico D*, Roifman M*, Braunschweig U, Yuen RKC, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick J, Blencowe BJ, Scherer SW† and Roifman CM†. (2015). Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. Nature Communications. Nov 2;6:8718. *Equal contribution; †Co-correspondence.

Tammimies K, Marshall CR, Walker S, PhD; Kaur G, Thiruvahindrapuram B, Lionel AC, Yuen RKC, Uddin M, Roberts W, Weksberg R, Woodbury-Smith M, Zwaigenbaum L, Anagnostou E, Wang Z, Wei J, Howe JL, Gazzellone M, Lau L, Sung W, Whitten K, Vardy C, Crosbie V, Tsang B, D’Abate L, Tong W, Luscombe S, Doyle T, Carter MT, Szatmari P, Stuckless S, Merico D, Stavropoulos DJ, Scherer SW, Fernandez BA. (2015). Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with Autism Spectrum Disorder. JAMA-Journal of the American Medical Association. Sep 1;314(9):895-903.

Yuen RKC, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, Hoang N, Chrysler C, Nalpathamkalam T, Pellecchia G, Liu Y, Gazzellone M, D’Abate L, Deneault E, Howe JL, Liu RSC, Thompson A, Zarrei M, Uddin M, Marshall CR, Ring RH, Zwaigenbaum L, Ray P, Weksberg R, Carter M, Fernandez BA, Roberts W, Szatmari P, Scherer SW. (2015). Whole-genome sequencing of quartet families with Autism Spectrum Disorder. Nature Medicine. Feb; 21(2):185-91.

Xiong HY*, Alipanahi B*, Lee LJ*, Bretschneider H, Merico D, Yuen RKC, Hua Y, Gueroussov S, Najafabadi HS, Bretschneider H, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ. (2015). The splicing code reveals new insights into the genetic determinants of disease. Science. Jan; 347(6218):1254806. *Equal contribution.

De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Fu S, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NJ, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Crooks L, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza L, Gonzalez PJ, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Wang L, Weiss LA, Willsey AJ, Yu TW, Yuen RKC, the DDD Study, Homozygosity Mapping Collaborative for Autism, UK10K Consortium, the Autism Sequencing Consortium, Cook EH, Freitag CM, Gill M, Hultman CH, Lehner T,  Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barrett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. (2014). Synaptic, transcriptional, and chromatin genes disrupted in autism. Nature. Nov; 515(7526):209-15.

Uddin M, Tammimies K, Pellecchia G, Alipanahi B, Hu P, Wang Z, Pinto D, Lau L, Nalpathamkalam T, Marshall CR, Blencowe BJ, Frey BJ, Merico D, Yuen RKC, Scherer SW. (2014). Brain-expressed exons under purifying selection are enriched for de novo mutations in Autism Spectrum Disorder. Nature Genetics. Jun; 94(6):809-17.

Jiang YH*, Yuen RKC*, Jin X*, Wang M*, Chen N, Wu X, Ju J, Mei J, Shi Y, He M, Wang G, Liang J, Wang Z, Cao D, Carter MT, Chrysler C, Drmic IE, Howe JL, Lau L, Marshall CR, Merico D, Nalpathamkalam T, Thiruvahindrapuram B, Thompson A, Uddin M, Walker S, Luo J, Anagnostou E, Zwaigenbaum L, Ring RH, Wang J, Lajonchere C, Wang J, Shih A, Szatmari P, Yang H, Dawson G, Li Y†, Scherer SW†. (2013). Detection of clinically relevant genetic variants in Autism Spectrum Disorder using whole genome sequencing. American Journal of Human Genetics. Aug; 93(2): 249-63. *Equal contribution; †Co-correspondence.

A detailed list of Dr. Yuen's publications is available on PubMed.