Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
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Regulation of KAT6 Acetyltransferases and Their Roles in Cell Cycle Progression, Stem Cell Maintenance, and Human DiseaseNext-Generation Sequencing in Intellectual DisabilityMutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationThe chromatin regulator Brpf1 regulates embryo development and cell proliferationBivalent interaction of the PZP domain of BRPF1 with the nucleosome impacts chromatin dynamics and acetylation.The Chromatin Regulator BRPF3 Preferentially Activates the HBO1 Acetyltransferase but Is Dispensable for Mouse Development and Survival.BRPF1 is essential for development of fetal hematopoietic stem cellsTruncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphismsTIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.Food allergy in a child with de novo KAT6A mutation.Clinical application of whole-exome sequencing across clinical indications.Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated PtosisScreening of nucleotide variations in genomic sequences encoding charged protein regions in the human genome.Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.
P2860
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P2860
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
description
2015 nî lūn-bûn
@nan
2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Dominant mutations in KAT6A ca ...... cognizable syndromic features.
@ast
Dominant mutations in KAT6A ca ...... cognizable syndromic features.
@en
type
label
Dominant mutations in KAT6A ca ...... cognizable syndromic features.
@ast
Dominant mutations in KAT6A ca ...... cognizable syndromic features.
@en
prefLabel
Dominant mutations in KAT6A ca ...... cognizable syndromic features.
@ast
Dominant mutations in KAT6A ca ...... cognizable syndromic features.
@en
P2093
P2860
P50
P1476
Dominant mutations in KAT6A ca ...... cognizable syndromic features.
@en
P2093
Addie Nesbitt
Avni Santani
Elaine H Zackai
Francisca Millan
Golder N Wilson
Helena Malmgren
Holly A Dubbs
Kenneth Rosenbaum
Michael J Parker
P2860
P304
P356
10.1016/J.AJHG.2015.01.016
P407
P577
2015-02-26T00:00:00Z