(Q41525456)

2 October 2017

title

Whole-genome sequencing of quartet families with autism spectrum disorder (English)

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Bhooma Thiruvahindrapuram

2 October 2017

main subject

autism spectrum disorder

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autism

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whole genome sequencing

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Lonnie Zwaigenbaum

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object named as

Bhooma Thiruvahindrapuram

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2 October 2017

Peter Szatmari

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2 October 2017

Stephen W Scherer

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2 October 2017

Kristiina Tammimies

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Robert H Ring

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Wendy Roberts

1 reference

2 October 2017

Daniele Merico

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2 October 2017

Rosanna Weksberg

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2 October 2017

Bridget A Fernandez

1 reference

2 October 2017

Thomas Nalpathamkalam

object named as

Thomas Nalpathamkalam

1 reference

2 October 2017

Giovanna Pellecchia

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2 October 2017

Ryan K C Yuen

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2 October 2017

Christian R Marshall

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2 October 2017

Matthew J Gazzellone

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2 October 2017

Lia D'Abate

1 reference

2 October 2017

Eric Deneault

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2 October 2017

Susan Walker

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2 October 2017

Ny Hoang

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2 October 2017

Christina Chrysler

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2 October 2017

Yi Liu

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2 October 2017

Jennifer L Howe

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2 October 2017

Richard S C Liu

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2 October 2017

Ann Thompson

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2 October 2017

Mehdi Zarrei

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2 October 2017

Mohammed Uddin

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2 October 2017

Peter N Ray

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2 October 2017

Melissa T Carter

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2 October 2017

language of work or name

English

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publication date

26 January 2015

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2 October 2017

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2 October 2017

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2 October 2017

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2 October 2017

page(s)

185-191

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Autism spectrum disorders and autistic traits: A decade of new twin studies

2 October 2017

cites work

1 reference

The familial risk of autism

21 January 2018

1 reference

Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations

21 January 2018

1 reference

A unified genetic theory for sporadic and inherited autism

21 January 2018

1 reference

Autism recurrence in half siblings: strong support for genetic mechanisms of transmission in ASD.

21 January 2018

1 reference

Synaptic, transcriptional and chromatin genes disrupted in autism

21 January 2018

1 reference

The contribution of de novo coding mutations to autism spectrum disorder

21 January 2018

1 reference

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

21 January 2018

1 reference

Functional impact of global rare copy number variation in autism spectrum disorders

21 January 2018

1 reference

Genetic architecture in autism spectrum disorder

21 January 2018

1 reference

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

21 January 2018

1 reference

Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning

21 January 2018

1 reference

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

21 January 2018

1 reference

A noncoding RNA antisense to moesin at 5p14.1 in autism

21 January 2018

1 reference

Gene and miRNA expression profiles in autism spectrum disorders

21 January 2018

1 reference

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 January 2018

1 reference

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

21 January 2018

1 reference

Genome sequencing identifies major causes of severe intellectual disability

21 January 2018

1 reference

A genomic screen of autism: evidence for a multilocus etiology

21 January 2018

1 reference

Computational techniques for human genome resequencing using mated gapped reads

21 January 2018

1 reference

Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum.

21 January 2018

1 reference

A map of human genome variation from population-scale sequencing

21 January 2018

1 reference

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

21 January 2018

1 reference

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

De novo mutations in human genetic disease

21 January 2018

1 reference

Recent explosive human population growth has resulted in an excess of rare genetic variants

21 January 2018

1 reference

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

21 January 2018

1 reference

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

21 January 2018

1 reference

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

21 January 2018

1 reference

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

21 January 2018

1 reference

Individual common variants exert weak effects on the risk for autism spectrum disorders

21 January 2018

1 reference

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

21 January 2018

1 reference

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

21 January 2018

1 reference

UBE3A/E6-AP mutations cause Angelman syndrome

21 January 2018

1 reference

A mutation in the thyroid hormone receptor alpha gene.

21 January 2018

1 reference

Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.

21 January 2018

1 reference

21 January 2018

Autism and hearing loss

1 reference

The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders

21 January 2018

1 reference

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

21 January 2018

1 reference

DNA methylation signatures in development and aging of the human prefrontal cortex

21 January 2018

1 reference

Association between microdeletion and microduplication at 16p11.2 and autism

21 January 2018

1 reference

Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA.

21 January 2018

1 reference

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

21 January 2018

1 reference

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

21 January 2018

1 reference

Predicting deleterious amino acid substitutions

21 January 2018

1 reference

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

Determinants of protein function revealed by combinatorial entropy optimization

21 January 2018

1 reference

Detection of nonneutral substitution rates on mammalian phylogenies

21 January 2018

1 reference

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

21 January 2018

1 reference

The Mouse Genome Database: integration of and access to knowledge about the laboratory mouse

21 January 2018

1 reference

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

21 January 2018

1 reference

Clinical genomic database

21 January 2018

1 reference

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

21 January 2018

1 reference

12 December 2020

Clinical phenotype and mutant TRα1

1 reference

12 December 2020

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease

1 reference

12 December 2020

Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study

1 reference

12 December 2020

Identifiers

DOI

10.1038/NM.3792

1 reference

release_aoldhdy7pzbxdjrflqyif4n6wq

2 October 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/aoldhdy7pzbxdjrflqyif4n6wq

24 November 2022

mapped directly with Wikidata item

1 reference