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Author Details

Marc Woodbury-Smith
Biosciences Institute, Newcastle University
2005
51
21
PMIDPaper TitleJournal TitlePublished Year
36626006Editorial: Training in Autism Among First Responders.J Autism Dev Disord2024
36476096Common practical questions - and answers - at the British Association for Psychopharmacology child and adolescent psychopharmacology course.J Psychopharmacol2023
37060896Lack of ethnic diversity in single-cell transcriptomics hinders cell type detection and precision medicine inclusivity.Med2023
37290907The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.J Med Genet2023
37154571Gene copy number variation and pediatric mental health/neurodevelopment in a general population.Hum Mol Genet2023
34791112Region-Specific KCC2 Rescue by rhIGF-1 and Oxytocin in a Mouse Model of Rett Syndrome.Cereb Cortex2022
35401260Vulnerability to Ideologically-Motivated Violence Among Individuals With Autism Spectrum Disorder.Front Psychiatry2022
35205252Mutational Landscape of Autism Spectrum Disorder Brain Tissue.Genes (Basel)2022
35325322Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort.Neurogenetics2022
32975665An Exploration of Physical and Phenotypic Characteristics of Bangladeshi Children with Autism Spectrum Disorder.J Autism Dev Disord2021
33719986Seeing the forest <i>and</i> the trees: Disentangling autism phenotypes in the age of DSM-5.Dev Psychopathol2021
33910390How to improve healthcare for autistic people: A qualitative study of the views of autistic people and clinicians.Autism2021
33594065Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.NPJ Genom Med2021
34458692Single-cell transcriptome identifies <i>FCGR3B</i> upregulated subtype of alveolar macrophages in patients with critical COVID-19.iScience2021
34802461Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.Hum Genomics2021
32372567Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.Am J Med Genet B Neuropsychiatr Genet2020
32109817Conceptualising social and communication vulnerabilities among detainees in the criminal justice system.Res Dev Disabil2020
30411505Rare copy number variation in extremely impulsively violent males.Genes Brain Behav2019
31799421Artificial intelligence for precision medicine in neurodevelopmental disorders.NPJ Digit Med2019
31475484Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes.Mol Genet Genomic Med2019
31602316A large data resource of genomic copy number variation across neurodevelopmental disorders.NPJ Genom Med2019
31124030A Systematic Review of What Barriers and Facilitators Prevent and Enable Physical Healthcare Services Access for Autistic Adults.J Autism Dev Disord2019
29395074OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.Am J Hum Genet2018
29890955A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.J Neurodev Disord2018
30147876An <i>ANKRD26</i> nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome).Clin Case Rep2018
29574884Progress in the genetics of autism spectrum disorder.Dev Med Child Neurol2018
29438995Genomic Context Analysis of <i>de Novo STXBP1</i> Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.G3 (Bethesda)2018
28649445Variable phenotype expression in a family segregating microdeletions of the <i>NRXN1</i> and <i>MBD5</i> autism spectrum disorder susceptibility genes.NPJ Genom Med2017
28289475Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families.J Neurodev Disord2017
28263302Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.Nat Neurosci2017
29152164Mutations in <i>RAB39B</i> in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.Mol Autism2017
29264391Germline and somatic mutations in <i>STXBP1</i> with diverse neurodevelopmental phenotypes.Neurol Genet2017
27350304Improving the uptake of health screening among individuals with intellectual disability.Dev Med Child Neurol2016
25432440Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.Hum Genet2015
26325558Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.JAMA2015
24472258Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder.J Am Acad Child Adolesc Psychiatry2014
25217089Editorial: ASD and illegal behaviors.J Autism Dev Disord2014
25155337Autism spectrum disorder (ASD) and unlawful behaviour: where do we go from here?J Autism Dev Disord2014
24381304Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.Hum Mol Genet2014
24418986Autism spectrum disorder: advances in evidence-based practice.CMAJ2014
24093601A molecular genetic study of autism and related phenotypes in extended pedigrees.J Neurodev Disord2013
22088867Improving the medical scale predictability by the pairwise comparisons method: evidence from a clinical data study.Comput Methods Programs Biomed2012
22095612Sex differences in repetitive stereotyped behaviors in autism: implications for genetic liability.Am J Med Genet B Neuropsychiatr Genet2012
21693092Managing anxiety and depressive symptoms in adults with autism-spectrum disorders.J Psychiatry Neurosci2011
22007974Youth in transition: care, health and development.Child Care Health Dev2011
20731967Autism spectrum disorders, schizophrenia and diagnostic confusion.J Psychiatry Neurosci2010
18563474Asperger syndrome.Eur Child Adolesc Psychiatry2009
18289376Clinical heterogeneity among people with high functioning autism spectrum conditions: evidence favouring a continuous severity gradient.Behav Brain Funct2008
15909409Asperger's syndrome: a comparison of clinical diagnoses and those made according to the ICD-10 and DSM-IV.J Autism Dev Disord2005
16331530The Adult Asperger Assessment (AAA): a diagnostic method.J Autism Dev Disord2005
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Collaborators

Stephen W Scherer
The Hospital for Sick Children
Co-authored papers 20
Peter Szatmari
Hospital for Sick Children, University of Toronto
Co-authored papers 14
Ryan K C Yuen
Co-authored papers 11
Mehdi Zarrei
Co-authored papers 10
Bridget A Fernandez
Memorial University of Newfoundland
Co-authored papers 9
Christian R Marshall
Co-authored papers 8
Ann Thompson
McMaster University
Co-authored papers 8
Susan Walker
Co-authored papers 7
Andrew D Paterson
The Hospital for Sick Children
Co-authored papers 6
Veronica J Vieland
The Ohio State University
Co-authored papers 4
Morgan Parlier
Co-authored papers 4
Joseph Piven
Oregon Health & Science University
Co-authored papers 4
Russell Schachar
The Hospital for Sick Children, University Ave
Co-authored papers 3
Jeremy R Parr
Co-authored papers 3
Kristiina Tammimies
Co-authored papers 3
Karen S Ho
Co-authored papers 2
Irene O'Conner
Co-authored papers 2
Asma Bankapur
College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences
Co-authored papers 2
Elaine T Lim
Co-authored papers 2
Nicole Deflaux
Co-authored papers 1
Yungui Huang
Research Institute at Nationwide Childrens Hospital, University of Iowa
Co-authored papers 1
Anne S Bassett
Institute of Medical Science, University of Toronto
Co-authored papers 1
Eric Fombonne
Oregon Health & Science University (OHSU)
Co-authored papers 1
James T Robinson
University of California San Diego
Co-authored papers 1
Brendan J Frey
University of Toronto
Co-authored papers 1
Bradley W Doble
Co-authored papers 1
Hilary Coon
Co-authored papers 1
Gregory L Hanna
Co-authored papers 1
Joachim Hallmayer
Stanford University School of Medicine
Co-authored papers 1
Cecil D Hahn
The Hospital for Sick Children and University of Toronto
Co-authored papers 1
Release 1.2