S. Walker

发表

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.

J. R. MacDonald, S. Scherer, D. Merico, 2018, American journal of human genetics.

Impact of DNA source on genetic variant detection from human whole-genome sequencing data

S. Scherer, C. Marshall, B. Trost, 2019, Journal of Medical Genetics.

Genome-wide characteristics of de novo mutations in autism

Samuel S. Gross, B. Frey, J. R. MacDonald, 2016, npj Genomic Medicine.

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Andrei L. Turinsky, Michael Brudno, Raveen Basran, 2017, American journal of human genetics.

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

S. Scherer, C. Lajonchere, D. Merico, 2013, American journal of human genetics.

Synaptic, transcriptional, and chromatin genes disrupted in autism

Christopher S. Poultney, Stephan J Sanders, Stephen J. Guter, 2014, Nature.

Whole-genome sequencing of quartet families with autism spectrum disorder

S. Scherer, D. Merico, B. Fernandez, 2015, Nature Medicine.

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

B. Frey, J. R. MacDonald, John Wei, 2017, Nature Neuroscience.

Rare deletions at the neurexin 3 locus in autism spectrum disorder.

D. Pinto, S. Scherer, D. Collier, 2012, American journal of human genetics.

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

Daniele Merico, Marc Fiume, John Wei, 2018, Canadian Medical Association Journal.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Daniele Merico, Raveen Basran, Christian R Marshall, 2017, Genetics in Medicine.

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015)

Peter Natesan Pushparaj, Jennifer D. Churchill, Omran M. Rashidi, 2016, BMC Genomics.

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

Daniele Merico, John Wei, Christian R Marshall, 2015, JAMA.

Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes

S. Scherer, J. Howe, A. Thompson, 2017, npj Genomic Medicine.

Genome sequencing among children with medical complexity: What constitutes value from parents’ perspective?

C. Marshall, S. Walker, G. Costain, 2021, Journal of genetic counseling.

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity

S. Scherer, C. Marshall, R. Yuen, 2020, JAMA network open.

Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling

S. Scherer, R. Yuen, J. Lerch, 2018, Molecular Psychiatry.

A large data resource of genomic copy number variation across neurodevelopmental disorders

J. R. MacDonald, John Wei, S. Scherer, 2019, npj Genomic Medicine.

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

S. Scherer, C. Marshall, A. Bassett, 2018, Genetics in Medicine.

Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage

S. Scherer, Irene E. Drmic, S. Walker, 2017, npj Genomic Medicine.

De Novo Genome and Transcriptome Assembly of the Canadian Beaver (Castor canadensis)

S. Scherer, T. Paton, R. Yuen, 2017, G3: Genes, Genomes, Genetics.

ARHGEF9 disease

S. Scherer, C. Marshall, S. Walker, 2017, Neurology: Genetics.

Pharmacogenetic profiling via genome sequencing in children with medical complexity

S. Scherer, C. Marshall, S. Walker, 2022, Pediatric Research.

Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing

S. Scherer, S. Walker, Arsalan Ahmad, 2022 .

Genome and Transcriptome Assembly of the Canadian Beaver ( ).

S. Scherer, T. Paton, R. Yuen, 2017 .

Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype

S. Scherer, S. Walker, B. Minassian, 2017, Neurology: Genetics.

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015)

Peter Natesan Pushparaj, Jennifer D. Churchill, Omran M. Rashidi, 2016, BMC Genomics.

SHANK1 Deletions in Males with Autism Spectrum Disorder.

D. Pinto, S. Scherer, T. Bourgeron, 2012, American journal of human genetics.

Chorea-acanthocytosis

S. Scherer, S. Walker, B. Thiruvahindrapuram, 2018, Neurology: Genetics.

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

S. Scherer, C. Marshall, S. Wodak, 2018, Genetics in Medicine.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

S. Scherer, L. Vissers, R. Pfundt, 2021, American journal of human genetics.

A high-resolution copy-number variation resource for clinical and population genetics

Pingzhao Hu, John Wei, Christian R Marshall, 2014, Genetics in Medicine.

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

Daniele Merico, Joseph Piven, Veronica J. Vieland, 2014, Human Genetics.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

D. Pinto, S. Scherer, D. Geschwind, 2014, Molecular Autism.

Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

J. Rosenfeld, D. Merico, A. C. Lionel, 2013 .

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

D. Pinto, S. Scherer, J. Sutcliffe, 2010, Journal of Medical Genetics.

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.

S. Scherer, G. Kirov, D. Merico, 2013, Human molecular genetics.

Exome Analyses Reveal New Autism Genes in Synaptic, Transcriptional, and Chromatin Networks Supplementary Methods

Christopher S. Poultney, Stephan J Sanders, Evan T. Geller, 2022 .

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

T. Bourgeron, R. Delorme, C. Gillberg, 2016, Molecular Psychiatry.

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

S. Scherer, D. Merico, C. Marshall, 2016, Scientific Reports.

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

S. Scherer, D. Merico, J. Howe, 2018, bioRxiv.

CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks

S. Scherer, J. Howe, R. Yuen, 2019, eLife.

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders

John Wei, S. Scherer, J. Brian, 2019, Nature Communications.

A large data resource of genomic copy number variation across neurodevelopmental disorders

John Wei, S. Scherer, D. Merico, 2019, npj Genomic Medicine.

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

S. Scherer, C. Marshall, A. Prasad, 2019, Journal of Neurodevelopmental Disorders.

Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity

S. Scherer, C. Cytrynbaum, R. Weksberg, 2018, European Journal of Human Genetics.

Copy number variation in Han Chinese individuals with autism spectrum disorder

John Wei, S. Scherer, A. C. Lionel, 2014, Journal of Neurodevelopmental Disorders.

A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.

C. Marshall, S. Walker, M. Reuter, 2020, American journal of medical genetics. Part A.

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

S. Scherer, N. Brown, R. Yuen, 2019, Brain : a journal of neurology.

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

Andrei L. Turinsky, S. Scherer, C. Cytrynbaum, 2019, Clinical Epigenetics.

Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants

S. Scherer, C. Cytrynbaum, R. Weksberg, 2019, npj Genomic Medicine.

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

S. Scherer, D. Merico, G. Casallo, 2017, Genetics in Medicine.

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

S. Scherer, J. Howe, C. Marshall, 2017, Molecular Autism.

Identification of candidate intergenic risk loci in autism spectrum disorder

S. Scherer, S. Walker, 2013, BMC Genomics.

Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants

S. Scherer, C. Cytrynbaum, R. Weksberg, 2019, npj Genomic Medicine.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

Autism Spectrum Disorder

D. Pinto, S. Scherer, P. Bolton, 2018, Sleep in Children with Neurodevelopmental Disabilities.

Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review

C. Marshall, S. Walker, G. Costain, 2020, Molecular genetics and metabolism reports.

Multiplex Paralogue Ratio Tests for accurate measurement of multiallelic CNVs.

S. Walker, J. Armour, Somwang Janyakhantikul, 2009, Genomics.

Experimental aspects of copy number variant assays at CCL3L1

D. Clayton, J. Todd, N. Walker, 2009, Nature Medicine.

Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders

N. Prescott, S. Walker, J. Schalkwijk, 2011, BMC Genomics.

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

S. Scherer, C. Marshall, R. Weksberg, 2018, European Journal of Human Genetics.

Screening for common copy-number variants in cancer genes.

S. Walker, J. Armour, T. Majerus, 2010, Cancer genetics and cytogenetics.

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders

S. Scherer, C. Cytrynbaum, C. Marshall, 2018, Journal of Medical Genetics.

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay

S. Scherer, A. C. Lionel, C. Marshall, 2017, American journal of medical genetics. Part A.

Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges

Steven P. Miller, S. Scherer, C. Marshall, 2021, American journal of medical genetics. Part A.

Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

D. Merico, C. Marshall, D. Rosenberg, 2016, Journal of Neurodevelopmental Disorders.

Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity

S. Scherer, C. Cytrynbaum, R. Weksberg, 2018, European Journal of Human Genetics.

Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

S. Scherer, D. Merico, C. Marshall, 2016, Journal of Neurodevelopmental Disorders.

Microcephaly‐capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing

S. Scherer, D. Merico, C. Marshall, 2016, American journal of medical genetics. Part A.

PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome

S. Scherer, S. Walker, B. Minassian, 2018, Annals of clinical and translational neurology.

DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants.

S. Scherer, R. Yuen, S. Walker, 2016, Cell reports.

α5GABAA receptor deficiency causes autism‐like behaviors

S. Scherer, B. Orser, E. Sibille, 2016, Annals of clinical and translational neurology.

Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.

S. Scherer, C. Marshall, P. Bauer, 2016, American journal of human genetics.

Quadruplex MAPH: improvement of throughput in high-resolution copy number screening

S. Walker, J. Armour, T. Majerus, 2009, BMC Genomics.

Hereditary Mucin Deficiency Caused by Biallelic Loss-of-Function of MUC5B.

C. Marshall, D. Manson, S. Walker, 2022, American journal of respiratory and critical care medicine.

DE NOVO VARIANTS IN FBXW7 ASSOCIATED WITH A VARIABLE NEURODEVELOPMENTAL AND CONGENITAL ANOMALY PHENOTYPE

W. Chung, O. Devinsky, A. Gupta, 2020 .

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

S. Scherer, C. Marshall, S. Wodak, 2018, Genetics in Medicine.

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

S. Scherer, J. Sutcliffe, D. Merico, 2015, Human Genetics.

Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes

S. Scherer, J. Howe, A. Thompson, 2017, npj Genomic Medicine.

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

S. Scherer, C. Cytrynbaum, R. Weksberg, 2019, Clinical Epigenetics.

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits

S. Scherer, C. Marshall, S. Walker, 2014, Annals of neurology.

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

S. Scherer, C. Marshall, A. Bassett, 2018, Genetics in Medicine.

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

S. Scherer, C. Marshall, A. Prasad, 2019, Journal of Neurodevelopmental Disorders.

Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy

S. Scherer, S. Walker, Peixiang Wang, 2019, Annals of clinical and translational neurology.

Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy

S. Scherer, C. Marshall, S. Walker, 2017, Clinical genetics.