Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome
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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsNext-Generation Sequencing in Intellectual DisabilityRecurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberPrioritization of neurodevelopmental disease genes by discovery of new mutations.The promise of whole-exome sequencing in medical genetics.Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.Clinical Presentation and Microarray Analysis of Peruvian Children with Atypical Development and/or Aberrant BehaviorLoss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouseAssessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo databaseRecurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.Gene and Network Analysis of Common Variants Reveals Novel Associations in Multiple Complex Diseases.Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study.Making headway with genetic diagnostics of intellectual disabilities.Integrating massively parallel sequencing into diagnostic workflows and managing the annotation and clinical interpretation challenge.Etiology of autism spectrum disorder: a genomics perspective.Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.Genetic studies in intellectual disability and related disorders.Caught in the act - protein adaptation and the expanding roles of the PACS proteins in tissue homeostasis and disease.De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.Diagnostically relevant facial gestalt information from ordinary photos.Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.Association Study of Three Gene Polymorphisms Recently Identified by a Genome-Wide Association Study with Obesity-Related Phenotypes in Chinese Children.Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.Insight into the molecular genetics of myopia.Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.Epigenetic control of mitochondrial cell death through PACS1-mediated regulation of BAX/BAK oligomerization.Clinical delineation of the PACS1-related syndrome--Report on 19 patients.A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.Whole-genome resequencing reveals signatures of selection and timing of duck domestication.
P2860
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P2860
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome
description
2012 nî lūn-bûn
@nan
2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Recurrent de novo mutations in ...... tellectual-disability syndrome
@ast
Recurrent de novo mutations in ...... tellectual-disability syndrome
@en
Recurrent de novo mutations in ...... tellectual-disability syndrome
@nl
type
label
Recurrent de novo mutations in ...... tellectual-disability syndrome
@ast
Recurrent de novo mutations in ...... tellectual-disability syndrome
@en
Recurrent de novo mutations in ...... tellectual-disability syndrome
@nl
prefLabel
Recurrent de novo mutations in ...... tellectual-disability syndrome
@ast
Recurrent de novo mutations in ...... tellectual-disability syndrome
@en
Recurrent de novo mutations in ...... tellectual-disability syndrome
@nl
P2093
P2860
P50
P3181
P1476
Recurrent de novo mutations in ...... tellectual-disability syndrome
@en
P2093
Arjan P M de Brouwer
Bert B A de Vries
Edwin C Oh
Han G Brunner
Janneke H M Schuurs-Hoeijmakers
Koenraad Devriendt
Mariëlle E M Swinkels
Marloes Steehouwer
Maureen Holvoet
Michèl A Willemsen
P2860
P304
P3181
P356
10.1016/J.AJHG.2012.10.013
P407
P577
2012-11-15T00:00:00Z