Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
Sign Up to like & getrecommendations! Published in 2023 at "JAMA pediatrics"
DOI: 10.1001/jamapediatrics.2023.0008
Abstract: Importance Exome sequencing is a first-tier diagnostic test for individuals with neurodevelopmental disorders, including intellectual disability/developmental delay and autism spectrum disorder; however, this recommendation does not include cerebral palsy. Objective To evaluate if the diagnostic… read more here.
Keywords: meta analysis; diagnostic yield; exome sequencing; yield ... See more keywords
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Psychiatry"
DOI: 10.1001/jamapsychiatry.2016.3798
Abstract: Importance Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives To promote the identification of disease genes through confirmation of previously described genes and… read more here.
Keywords: exome sequencing; 152 consanguineous; diagnostic yield; consanguineous families ... See more keywords
Mendelian etiologies identified with whole exome sequencing in cerebral palsy
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51506
Abstract: Cerebral palsy (CP) is the most common childhood motor disability, yet its link to single‐gene disorders is under‐characterized. To explore the genetic landscape of CP, we conducted whole exome sequencing (WES) in a cohort of… read more here.
Keywords: whole exome; cerebral palsy; mendelian etiologies; exome sequencing ... See more keywords
Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.742
Abstract: [This corrects the article DOI: 10.1002/acn3.582.]. read more here.
Keywords: exome sequencing; sequencing 197; 197 persons; rare variants ... See more keywords
Heritability of social behavioral phenotypes and preliminary associations with autism spectrum disorder risk genes in rhesus macaques: A whole exome sequencing study
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DOI: 10.1002/aur.2675
Abstract: Nonhuman primates and especially rhesus macaques (Macaca mulatta) have been indispensable animal models for studies of various aspects of neurobiology, developmental psychology, and other aspects of neuroscience. While remarkable progress has been made in our… read more here.
Keywords: heritability; autism; social behavior; rhesus macaques ... See more keywords
Targeted exome sequencing reveals a novel GLI3 mutation in a Chinese family with nonsyndromic polydactyly
Sign Up to like & getrecommendations! Published in 2019 at "Developmental Dynamics"
DOI: 10.1002/dvdy.89
Abstract: Polydactyly is a phenotypically and genetically highly heterogeneous limb malformation with preaxial, postaxial, and central subtypes. The aim of this study was to identify genetically pathogenic factor in a Chinese nonsyndromic polydactyly family. read more here.
Keywords: exome sequencing; family; nonsyndromic polydactyly; sequencing reveals ... See more keywords
mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23125
Abstract: Exome sequencing has been widely used to identify the genetic variants underlying human genetic disorders for clinical diagnoses, but the identification of pathogenic sequence variants among the huge amounts of benign ones is complicated and… read more here.
Keywords: exome sequencing; pathogenic sequence; web server; sequence variants ... See more keywords
A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23690
Abstract: Recent whole‐exome sequencing (WES) studies have demonstrated the contribution of de novo mutations (DNMs) to epileptic encephalopathies (EEs). Here, we performed WES on four trios with West syndrome and identified three loss‐of‐function DNMs in both… read more here.
Keywords: exome sequencing; novo pathogenic; pathogenic csnk1e; csnk1e ... See more keywords
Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24241
Abstract: The study of genetic syndromes characterized by sensitivity to DNA damaging agents has provided important insights into the mechanisms that maintain genome stability and identified novel targets for cancer therapies. Here, we used exome sequencing… read more here.
Keywords: dna damage; exome sequencing; ionizing radiation; functional screening ... See more keywords
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24459
Abstract: Most causal variants of Mendelian diseases are exonic. Whole‐exome sequencing (WES) has become the diagnostic gold standard, but causative variant prioritization constitutes a bottleneck. Here we assessed an in‐house sample‐to‐sequence pipeline and benchmarked free prioritization… read more here.
Keywords: causal variants; exome sequencing; pipeline; whole exome ... See more keywords
Whole‐exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23074
Abstract: Autosomal recessive Robinow syndrome (ARRS) is a rare genetic disorder, which affects the development of multiple systems, particularly the bones. read more here.
Keywords: exome sequencing; identified compound; whole exome; sequencing identified ... See more keywords