Staff Profile

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

• Articles

  • Kosaji N, Zehra B, Nassir N, Tambi R, Orszulak AR, Lim ET, Berdiev BK, Woodbury-Smith M, Uddin M. Lack of ethnic diversity in single-cell transcriptomics hinders cell type detection and precision medicine inclusivity. Med 2023, 4(4), 217-219.
  • Zarrei M, Burton CL, Engchuan W, Higginbotham EJ, Wei J, Shaikh S, Roslin NM, MacDonald JR, Pellecchia G, Nalpathamkalam T, Lamoureux S, Manshaei R, Howe J, Trost B, Thiruvahindrapuram B, Marshall CR, Yuen RKC, Wintle RF, Strug LJ, Stavropoulos DJ, Vorstman JAS, Arnold P, Merico D, Woodbury-Smith M, Crosbie J, Schachar R, Scherer SW. Gene copy number variation and pediatric mental health/neurodevelopment in a general population. Human Molecular Genetics 2023, 32(15), 2411-2421.
  • Cortese S, Besag FMC, Clark B, Hollis C, Kilgariff J, Moreno C, Nicholls D, Wilkinson P, Woodbury-Smith M, Sharma A. Common practical questions – and answers – at the British Association for Psychopharmacology child and adolescent psychopharmacology course. Journal of Psychopharmacology 2023, 7(2), 119-134.
  • Woodbury-Smith MR, Loftin R, Westphal A, Volkmar FR. Vulnerability to ideologically-motivated violence among individuals with Autism Spectrum Disorder (ASD). Frontiers in Psychiatry 2022, 13, 873121.
  • Woodbury-Smith M, Lamoureux S, Begum G, Nassir N, Akter H, O'Rielly DD, Rahman P, Wintle RF, Scherer SW, Uddin M. Mutational Landscape of Autism Spectrum Disorder Brain Tissue. Genes 2022, 13(2), 207.
  • Nassir N, Sati I, AlShaibani S, Ahmed A, Almidani O, Akter H, Woodbury-Smith M, Tayoun AA, Uddin M, Albanna A. Detection of clinically relevant copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort. neurogenetics 2022, 23, 137-149.
  • Akter H, Hossain M, Dity N, Rahaman A, Uddin KM, Nassir N, Begum G, Hameid R, Islam M, Tusti T, Basiruzzaman M, Sarkar S, Islam M, Jahan S, Lim E, Woodbury-Smith M, Stavropoulos D, O'Rielly D, Berdeiv B, Nabi AHM, Ahsan M, Scherer SW, Uddin M. Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh. npj Genomic Medicine 2021, 6, 14.
  • Nassir N, Tambi R, Bankapur Asma, Al Heialy S, Karuvantevida N, Khansaheb HH, Zehra B, Begum G, Hameid RA, Ahmed A, Deesi Z, Alkhajeh A, Uddin KMF, Akter H, Shabestari SAS, Almidani O, Islam A, Gaudet M, Kandasamy RK, Loney T, Tayoun AA, Nowotny N, Woodbury-Smith M, Rahman P, Kuebler WM, Al Mashshadani M, Casanova JL, Berdiev BB, Alsheikh-Ali A, Uddin M. Single-cell transcriptome identifies FCGR3B upregulated subtype of alveolar macrophages in patients with critical COVID-19. iScience 2021, 24(9), 103030.
  • Nassir N, Bankapur A, Samara B, Ali A, Ahmed A, Inuwa I, Zarrei M, Shabestari S, AlBanna A, Howe JL, Berdiev B, Scherer SW, Woodbury-Smith M, Uddin M. Single cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss of function variants genes regulating glial cells. Human Genomics 2021, 15(68).
  • Volkmar F, Woodbury-Smith M, Macari SL, Øien R. Seeing the forest and the trees: Disentangling autism phenotypes in the age of DSM-5. Development and Psychopathology 2021, 33(2), 625-633.
  • Gigliucci V, Teutsch J, Woodbury-Smith M, Luoni M, Busnelli M, Chini B, Banerjee A. Region-Specific KCC2 Rescue by rhIGF-1 and Oxytocin in a Mouse Model of Rett Syndrome. Cerebral Cortex 2021, bhab388.
  • Dein K, Hassiotis A, Woodbury-Smith M, Roychowdhury A, Squires R, Freestone M. Prevalence of autism within medium secure units: a feasibility study. Journal of Forensic Psychiatry and Psychology 2021, 32(6), 861-878.
  • Mason D, Ingham B, Birtles H, Michael C, Scarlett C, James IA, Brown T, Woodbury-Smith M, Wilson C, Finch T, Parr JR. How to improve healthcare for autistic people: A qualitative study of the views of autistic people and clinicians. Autism: the international journal of research and practice 2021, 25(3), 774-785.
  • Rahaman MA, Lopa M, Uddin KMF, Baqui MA, Keya SP, Faruk MO, Sarker S, Basiruzzaman M, Islam M, AlBanna A, Jahan N, Chowdhury M, Saha N, Hussain M, Colombi C, ORielly D, Woodbury-Smith M, Ghaziuddin M, Rahman MM, Uddin M. An Exploration of Physical and Phenotypic Characteristics of Bangladeshi Children with Autism Spectrum Disorder. Journal of Autism and Developmental Disorders 2021, 51, 2392-2401.
  • 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.
  • Woodbury-Smith M, Paterson AD, Szatmari P, Scherer SW. Genome-wide association study of emotional empathy in children. Scientific Reports 2020, 10, 7469.
  • Woodbury-Smith MR. Conceptualising social and communication vulnerabilities among detainees in the criminal justice system. Research in Developmental Disabilities 2020, 100, 103611.
  • 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.
  • 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.
  • 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, 7(10), e00954.
  • 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.
  • Uddin M, Wang Y, Woodbury-Smith MR. Artificial intelligence for precision medicine in neurodevelopmental disorders. npj Digital Medicine 2019, 2, 112.
  • 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.
  • 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.
  • Woodbury-Smith MR, Scherer SW. Progress in the genetics of Autism Spectrum Disorder. Developmental Medicine Child Neurology 2018, 60(5), 445-451.
  • 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.
  • 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.
  • 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.
  • 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 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.
  • 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.
  • 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.
  • 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.
  • 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 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.

• Book Chapters

  • Woodbury-Smith MR. Violence Prevention. In: Volkmar, FR; Loftin, R; Westphal, A; Woodbury-Smith, MR, ed. Handbook of Autism Spectrum Disorder and the Law. New York: Springer, 2021, pp.523-537.
  • Woodbury-Smith MR. ASD and unlawful behavior: Background. In: Volkmar, FR; Loftin, R; Westphal, A; Woodbury-Smith, MR, ed. Handbook of Autism Spectrum Disorder and the Law. New York: Springer, 2021, pp.574.
  • Woodbury-Smith M, Tran F. Canada and Autism. In: Volkmar F, ed. Encyclopedia of Autism Spectrum Disorders. New York: Springer, 2017, pp.1-6.

• Edited Book

  • Volkmar FR, Loftin R, Westphal A, Woodbury-Smith MR, ed. Handbook of Autism Spectrum Disorder and the Law. New York, NY, USA: Springer, 2021.

• Editorial

  • Woodbury-Smith MR, Westphal A, Loftin R. Editorial: Training in Autism Among First Responders. Journal of Autism and Developmental Disorders 2024, 54, 1233–1234.