4.6 Article

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Developmental Biology

Therapeutic Approaches for Shankopathies

Xiaoming Wang et al.

DEVELOPMENTAL NEUROBIOLOGY (2014)

Article Medicine, General & Internal

Clinical Interpretation and Implications of Whole-Genome Sequencing

Frederick E. Dewey et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)

Article Medicine, General & Internal

Autism

Meng-Chuan Lai et al.

LANCET (2014)

Article Genetics & Heredity

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

Martin Kircher et al.

NATURE GENETICS (2014)

Letter Biochemical Research Methods

MutationTaster2: mutation prediction for the deep-sequencing age

Jana Marie Schwarz et al.

NATURE METHODS (2014)

Review Clinical Neurology

Disentangling the heterogeneity of autism spectrum disorder through genetic findings

Shafali S. Jeste et al.

NATURE REVIEWS NEUROLOGY (2014)

Article Biochemistry & Molecular Biology

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

Danielle Welter et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Biochemistry & Molecular Biology

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

Luigi Boccuto et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2013)

Review Genetics & Heredity

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

Kym M. Boycott et al.

NATURE REVIEWS GENETICS (2013)

Article Biochemistry & Molecular Biology

Ensembl 2013

Paul Flicek et al.

NUCLEIC ACIDS RESEARCH (2013)

Article Biochemistry & Molecular Biology

STRING v9.1: protein-protein interaction networks, with increased coverage and integration

Andrea Franceschini et al.

NUCLEIC ACIDS RESEARCH (2013)

Article Multidisciplinary Sciences

An integrated map of genetic variation from 1,092 human genomes

David M. Altshuler et al.

NATURE (2012)

Article Genetics & Heredity

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo et al.

NATURE GENETICS (2011)

Article Biochemical Research Methods

Fast and accurate long-read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2010)

Article Biochemistry & Molecular Biology

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna et al.

GENOME RESEARCH (2010)

Article Biochemistry & Molecular Biology

AutDB: a gene reference resource for autism research

Saumyendra N. Basu et al.

NUCLEIC ACIDS RESEARCH (2009)

Article Multidisciplinary Sciences

The International HapMap Project

RA Gibbs et al.

NATURE (2003)

Article Biochemistry & Molecular Biology

dbSNP: the NCBI database of genetic variation

ST Sherry et al.

NUCLEIC ACIDS RESEARCH (2001)