Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

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Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

P2860

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P2860

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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Exome analysis of Smith-Mageni ...... vo likely pathogenic variants.

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label

Exome analysis of Smith-Mageni ...... vo likely pathogenic variants.

@en

prefLabel

Exome analysis of Smith-Mageni ...... vo likely pathogenic variants.

@en

P1476

Exome analysis of Smith-Mageni ...... vo likely pathogenic variants.

@en

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Andrea Gropman

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Ann C M Smith

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Carla Ciccone

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Charles Billington

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Jan K Blancato

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Karen L Simon

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Marjan Huizing

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May Christine Malicdan

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Roxanne Fischer

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Thierry Vilboux

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P2860

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

Accurate whole human genome sequencing using reversible terminator chemistry

Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders

Analysis of protein-coding genetic variation in 60,706 humans

The contribution of de novo coding mutations to autism spectrum disorder

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

A general framework for estimating the relative pathogenicity of human genetic variants

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s00439-017-1767-x

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409-420

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scholarly article

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10.1007/S00439-017-1767-X

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136

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Seth Berger

NISC Comparative Sequencing Program

James C Mullikin

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2017-02-17T00:00:00Z

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1083847727

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28213671

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5848494

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Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

about

P2860

P2860

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P6179

P698

P932