Author details

Full Name

Susan Walker

Affiliation

ORCID

Career Start Year

2009

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36167815	Pharmacogenetic profiling via genome sequencing in children with medical complexity.	Pediatr Res	2023
35023825	Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of <i>MUC5B</i>.	Am J Respir Crit Care Med	2022
35395208	Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.	Am J Hum Genet	2022
34674352	Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?	Journal of Genetic Counseling	2022
34159711	Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges.	Am J Med Genet A	2021
33909990	Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.	Am J Hum Genet	2021
32652832	A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.	American Journal of Medical Genetics, Part A	2020
33101983	Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a <i>PEX3</i> defect: Case report and literature review.	Mol Genet Metab Rep	2020
31044088	Expanding the neurodevelopmental phenotypes of individuals with de novo <i>KMT2A</i> variants.	NPJ Genom Med	2019
31602316	A large data resource of genomic copy number variation across neurodevelopmental disorders.	NPJ Genom Med	2019
30293988	De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.	Genet Med	2019
30232381	Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.	Genet Med	2019
29467497	Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling.	Mol Psychiatry	2019
30759379	Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.	Stem Cell Reports	2019
30747104	<i>CNTN5</i><sup>-</sup><i><sup>/+</sup></i>or <i>EHMT2</i><sup>-</sup><i><sup>/+</sup></i>human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks.	Elife	2019
31020005	Dominant <i>LMAN2L</i> mutation causes intellectual disability with remitting epilepsy.	Ann Clin Transl Neurol	2019
31327001	Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.	Brain	2019
31515274	Impact of DNA source on genetic variant detection from human whole-genome sequencing data.	J Med Genet	2019
29453418	Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.	Eur J Hum Genet	2018
28771251	Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.	Genet Med	2018
28771244	De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.	Genet Med	2018
29976977	Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity.	Eur J Hum Genet	2018
30392976	Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.	Stem Cell Reports	2018
30564627	<i>PI4K2A</i> deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.	Ann Clin Transl Neurol	2018
29304372	A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.	Am J Hum Genet	2018
29431110	The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.	CMAJ	2018
29599419	Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disorders.	J Med Genet	2018
29845114	Chorea-acanthocytosis: Homozygous 1-kb deletion in <i>VPS13A</i> detected by whole-genome sequencing.	Neurol Genet	2018
27874174	Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.	Clin Genet	2017
28955728	Hyperventilation-athetosis in <i>ASXL3</i> deficiency (Bainbridge-Ropers) syndrome.	Neurol Genet	2017
28589176	<i>ARHGEF9</i> disease: Phenotype clarification and genotype-phenotype correlation.	Neurol Genet	2017
28626794	Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype.	Neurol Genet	2017
28840640	De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.	Am J Med Genet A	2017
28475860	CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.	Am J Hum Genet	2017
28649445	Variable phenotype expression in a family segregating microdeletions of the <i>NRXN1</i> and <i>MBD5</i> autism spectrum disorder susceptibility genes.	NPJ Genom Med	2017
29263838	Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.	NPJ Genom Med	2017
29152164	Mutations in <i>RAB39B</i> in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.	Mol Autism	2017
27166760	CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.	Mol Psychiatry	2017
28087693	<i>De Novo</i> Genome and Transcriptome Assembly of the Canadian Beaver (<i>Castor canadensis</i>).	G3 (Bethesda)	2017
28263302	Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.	Nat Neurosci	2017
27866705	Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.	Am J Hum Genet	2016
27231709	Î±5GABAA receptor deficiency causes autism-like behaviors.	Ann Clin Transl Neurol	2016
27363808	Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.	Sci Rep	2016
27531570	Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.	Am J Med Genet A	2016
27525107	Genome-wide characteristics of <i>de novo</i> mutations in autism.	NPJ Genom Med	2016
27829159	DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants.	Cell Rep	2016
27777633	Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation.	J Neurodev Disord	2016
26325558	Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.	JAMA	2015
25503493	A high-resolution copy-number variation resource for clinical and population genetics.	Genet Med	2015
25621899	Whole-genome sequencing of quartet families with autism spectrum disorder.	Nat Med	2015