I am a clinical senior lecturer involved in research that focuses on the genetics of autism spectrum disorder (ASD).  I also work as an honorary consultant psychiatrist in the Complex Neurodevelopmental Disorder service (CNDS), providing tertiary level assessment for children who have, or are suspected of having, ASD. I previously worked as an Associate Professor at McMaster University in Canada and Associate Investigator at the Centre for Applied Genomics at the Hospital for Sick Children in Toronto, a role that I continue.I have postdoctoral training in genetic epidemiology and statistical genetics (STAGE program, University of Toronto).

Qualifications

MB ChB, Dundee University

MPhil, Cambridge University

MA, Southampton University

PhD Cambridge University

MRCPsych, Royal College of Psychiatrists, London

Editorial positions

2015 - current Associate Editor, Journal of Autism and Developmental Disorders

2015- current Editorial Board, British Journal of Learning Disabilities

Affiliations

Associate Investigator, The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON

• Woodbury-Smith MR. Conceptualising social and communication vulnerabilities among detainees in the criminal justice system. Research in Developmental Disabilities 2020, 100, 103611.
• Woodbury-Smith MR, Zarrei M, Wei J, Thiruvahindrapuram B, OConnor I, Paterson AD, Yuen RKC, Dastan J, Stavropoulos DJ, Howe JH, Thompson A, Parlier M, Fernandez B, Piven J, Anagnostou E, Scherer SW, Vieland VJ, Szatmari P. Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees. American Journal of Medical Genetics: Part B Neuropsychiatric Genetics 2020, 183(5), 268-276.
• Zarrei M, Burton CL, Worrawat E, Young EJ, Higginbotham EJ, Wei J, MacDonald JR, Miron K, Pellecchia G, Faheem M, Chan AJS, Lamoureux S, Heung T, Mojarad BA, Kellam B, Paton T, Costain G, Walker S, Trost B, Lu C, Wang T, Sampler K, Wang X, Hoang N, Thiruvahindrapuram B, Roifman B, Merico D, Howe JL, Woodbury-Smith M, Yuen RKC, Buchanan JA, Vorstman JAS, Marshall CR, Wintle RF, Cytrynbaum C, Zwaigenbaum L, Elsabbagh M, Flanagan J, Fernandez BA, Carter MT, Szatmari P, Roberts W, Lerch J, Liu X, Nicolson R, Georgiades S, Weksberg R, Arnold PD, Bassett AS, Crosbie J, Schachar R, Stavropoulos DJ, Anagnostou E, Scherer SW. A large data resource of genomic copy number variation across neurodevelopmental disorders. npj Genomic Medicine 2019, 4, 26.
• Mason D, Ingham B, Urbanowicz A, Michael C, Birtles H, Woodbury-Smith M, Brown T, James I, Scarlett C, Nicolaidis C, Parr JR. A Systematic Review of What Barriers and Facilitators Prevent and Enable Physical Healthcare Services Access for Autistic Adults. Journal of Autism and Developmental Disorders 2019, 49, 3387-3400.
• Uddin M, Wang Y, Woodbury-Smith MR. Artificial intelligence for precision medicine in neurodevelopmental disorders. npj Digital Medicine 2019, 2, 112.
• Koczkodaj W, Mazurek M, Strzalka D, Wolny-Dominiak A, Woodbury-Smith M. Electronic Health Record Breaches as Social Indicators. Social Indicators Research 2019, 141(2), 861-871.
• Rahman MM, Uddin KMF, Al Jezawi NK, Karuvantevida N, Akter H, Dity NJ, Rahaman A, Lopa MB, Rahaman A, Baqui A, Salwa Z, Islam S, Woodbury-Smith M, Basiruzzaman M, Uddin M. Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes. Molecular Genetics & Genomic Medicine 2019, ePub ahead of print.
• Akter H, Sultana N, Martuza N, Siddiqua A, Dity NJ, Rahaman MA, Samara BS, Sayeed A, Basiruzzaman M, Rahman MM, Hoq R, Amin MR, Baqui MA, Woodbury-Smith M, Uddin KMF, Islam SS, Sumi RA, Berdiev BK, Uddin M. Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort. BMC Medical Genetics 2019, 20, 150.
• Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D'Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M, Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer SW, Singh KK. OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome. American Journal of Human Genetics 2018, 102(2), 278-295.
• Woodbury-Smith M, Paterson AD, O'Connor I, Zarrei M, Yuen RKC, Howe JL, Thompson A, Parlier M, Fernandez B, Piven J, Scherer SW, Vieland V, Szatmari P. A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees. Journal of Neurodevelopmental Disorders 2018, 10(1), 20.
• Uddin KMF, Amin R, Majumder S, Aleem M, Rahman A, Dity N, Baqui MD, Akter H, Rahman M, Woodbury-Smith M, Scherer S, Uddin M. An ANKRD26 loss of function somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome). Clinical Case Reports 2018, 6(8), 1426-1430.
• Uddin M, Woodbury-Smith M, Chan A, Albanna A, Minassian B, Boelman C, Scherer S. Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots. G3: Genes, Genomes, Genetics 2018, 8(4), 1115-1118.
• Woodbury-Smith MR, Furimsky I, Chaimowitz G. Point Prevalence of Adults with Intellectual Developmental Disorder in Forensic Psychiatric Inpatient Services in Ontario, Canada. International Journal of Risk and Recovery 2018, 1(1), 4-11.
• Woodbury-Smith MR, Scherer SW. Progress in the genetics of Autism Spectrum Disorder. Developmental Medicine Child Neurology 2018, 60(5), 445-451.
• Vevera J, Zarrei M, Hartmannová H, Jedličková I, Mušálková D, Přistoupilová A, Oliveriusová P, Trešlová H, Nosková L, Hodaňová K, Stránecký V, Jiřička V, Preiss M, Příhodová K, Šaligová J, Wei J, Woodbury-Smith M, Bleyer AJ, Scherer SW, Kmoch S. Rare Copy Number Variation In an Extremely Impulsively Violent Males. Genes, Brain and Behavior 2019, 18(6), e12536.
• Woodbury-Smith M, Tran F. Canada and Autism. In: Volkmar F, ed. Encyclopedia of Autism Spectrum Disorders. New York: Springer, 2017, pp.1-6.
• Woodbury-Smith M, Bilder DA, Morgan J, Jerominski L, Darlington T, Dyer T, Paterson AD, Coon H. Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families. Journal of Neurodevelopmental Disorders 2017, 9, 5.
• Uddin M, Woodbury-Smith M, Chan Ada, Brunga L, Lamoureux S, Pellecchia G, Yuen RKC, Faheem M, Stavropoulos DJ, Drake J, Hahn CD, Hawkins C, Shlien A, Marshall CR, Turner LA, Minassian B, Scherer SW, Boelman C. Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes. Neurology Genetics 2017, 3(6), e199.
• Woodbury-Smith MR, Deneault E, Yuen RKC, Walker S, Zarrei M, Pellecchia G, Howe J, Hoang N, Uddin M, Marshall C, Chrysler C, Thompson A, Szatmari P, Scherer SW. Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly. Molecular Autism 2017, 8, 59.
• Woodbury-Smith M, Nicolson R, Zarrei M, Yuen RKC, Walker S, Howe J, Uddin M, Hoang N, Buchanan JA, Chrysler C, Thompson A, Szatmari P, Scherer SW. Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5autism spectrum disorder susceptibility genes. npj Genomic Medicine 2017, 2, 17.
• Yuen RKC, Merico D, Bookman M, Howe JL, 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 AJS, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WWL, Tsoi FJ, Wei J, Xu L, Tasse A-M, 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. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nature Neuroscience 2017, 20(4), 602-611.