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Browsing publications by Dr Marc Woodbury-Smith

Newcastle AuthorsTitleYearFull text
Dr Marc Woodbury-Smith
A large data resource of genomic copy number variation across neurodevelopmental disorders2019
David Mason
Dr Barry Ingham
Dr Marc Woodbury-Smith
Toni Brown
Professor Jeremy Parr
et al.
A Systematic Review of What Barriers and Facilitators Prevent and Enable Physical Healthcare Services Access for Autistic Adults2019
Dr Marc Woodbury-Smith
Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes2019
Dr Marc Woodbury-Smith
Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort2019
Dr Marc Woodbury-Smith
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome2018
Dr Marc Woodbury-Smith
Dr Andrew Paterson
A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees2018
Dr Asad Rahman
Dr Marc Woodbury-Smith
An ANKRD26 loss of function somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)2018
Dr Marc Woodbury-Smith
Electronic Health Record Breaches as Social Indicators2018
Dr Muhammad Uddin
Dr Marc Woodbury-Smith
Ayman Albanna
Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots2018
Dr Marc Woodbury-Smith
Point Prevalence of Adults with Intellectual Developmental Disorder in Forensic Psychiatric Inpatient Services in Ontario, Canada2018