Woodbury-Smith | Psychiatry | School of Medicine

Dr. Marc Woodbury-Smith

Position(s)

I am an Associate Professor in the Department of Psychiatry at Queen's University and work clinically as a neurodevelopmental psychiatrist in the Developmental Disabilities Consultation Program (DDCP). I trained in Psychiatry in Cambridge, UK and at the Yale Child Study Center, USA and undertook training in genetic epidemiology and statistical genetics in Toronto (STAGE program). My research interests include the genetics of neurodevelopmental disorders and their endophenotypes. I have worked clinically with children and adults with intellectual disability and related neurodevelopmental disorders such as autism spectrum disorder (ASD) for many years. I also hold honorary posts including Associate Investigator at the Centre for Applied Genomics at the Hospital for Sick Children in Toronto, Canada and Visiting Fellow at the Biosciences Institute in Newcastle upon Tyne UK. I am an Associate Editor of the Journal of Autism and Developmental Disorders.

Selected recent publications

Kikuchi, Y, Veltman, J, Uddin, M, Woodbury-Smith, M. (2025). Evolutionary constrained genes implicated in autism spectrum disorder across 2,054 non-human primate genomes. Molecular Autism. In press.

Akter, H, Rahaman, MA, […] Woodbury-Smith, M, Furkan Uddin, KM, Nurun Nabi, AHM, Uddin, M. (2025). Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort. Genetics in Medicine 2025, 27(1): 101282.

Woodbury-Smith M, D’Abate L, Stavropoulos DJ, Howe, JL, Drimic, I, Hoang, N, Zarrei, M, Trost, B, Iaboni, A, Anagnostou, E, Scherer, SW (2023). The Phenotypic variability of 16p11.2 distal BP2–BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples. Journal of Medical Genetics Published Online First: 08 June 2023. doi: 10.1136/jmg-2022-108818

Kosaji, N., Zehra, B., Nassir, N., Tambi, R., Orszulak, AR., Lim, ET., Berdiev, BK, Woodbury-Smith, M., Uddin, M. (2023). Lack of ethnic diversity in single-cell transcriptomics hinders cell type detection and precision medicine inclusivity. Med, 4(4): 217-219.

Sarker S, Eshaque TB, Soorajkumar A, Nassir N, Zehra B, Kanta SI, Rahaman MA, Islam A, Akter S, Ali MK, Mim RA, Uddin KMF, Chowdhury MSJ, Shams N, Baqui MA, Lim ET, Akter H, Woodbury-Smith M, Uddin M. Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population. Scientific Reports 2023, 13(1), 21547.

Gigliucci V, Teutsch J, Woodbury-Smith M, Luoni M, Busnelli M, Chini B, Banerjee A. (2022). Region-Specific KCC2 Rescue by rhIGF-1 and Oxytocin in a Mouse Model of Rett Syndrome. Cerebral Cortex 32(13):2885-2894.

Woodbury-Smith M, Lamoureux S, Begum G, Nassir N, Akter H, O'Rielly DD, Rahman P, Wintle RF, Scherer SW, Uddin M. (2022). Mutational Landscape of Autism Spectrum Disorder Brain Tissue. Genes 13(2), 207.

Woodbury-Smith M, Loftin R, Westphal A, Volkmar FR. (2022). Vulnerability to ideologically-motivated violence among individuals with Autism Spectrum Disorder (ASD). Frontiers in Psychiatry 13, 873121.

Nassir N, Sati I, AlShaibani S, Ahmed A, Almidani O, Akter H, Woodbury-Smith M, Tayoun AA, Uddin M, Albanna A. (2022). Detection of clinically relevant copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort. Neurogenetics 23, 137-149.

Nassir N, Bankapur A, Samara B, Ali A, Ahmed A, Inuwa I, Zarrei M, Shabestari S, AIBanna A, Howe JL, Berdiev B, Scherer SW, Woodbury-Smith M, Uddin M. (2021). Single cell transcriptome identifies molecular subtypes of autism spectrum disorder impacted by de novo loss of function variants genes regulating glial cells. Human Genomics 15(1):68.

Team

Selected recent publications

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