(Q38486248)

3 September 2017

title

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

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3 September 2017

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12

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3 September 2017

C Toma

1

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3 September 2017

B Torrico

2

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3 September 2017

A Hervás

3

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3 September 2017

R Valdés-Mas

4

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3 September 2017

A Tristán-Noguero

5

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3 September 2017

V Padillo

6

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3 September 2017

M Maristany

7

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3 September 2017

M Salgado

8

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3 September 2017

C Arenas

9

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3 September 2017

X S Puente

10

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3 September 2017

M Bayés

11

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3 September 2017

language of work or name

English

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publication date

3 September 2013

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3 September 2017

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3 September 2017

volume

19

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3 September 2017

issue

7

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3 September 2017

page(s)

784-790

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Annual research review: re-thinking the classification of autism spectrum disorders

3 September 2017

cites work

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https://api.crossref.org/works/10.1038%2FMP.2013.106

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Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Patterns and rates of exonic de novo mutations in autism spectrum disorders

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

De Novo Gene Disruptions in Children on the Autistic Spectrum

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Autism as a strongly genetic disorder: evidence from a British twin study

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Strong association of de novo copy number mutations with autism

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

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The Sequence Alignment/Map format and SAMtools

21 January 2018

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Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Detecting false-positive signals in exome sequencing

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

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A method and server for predicting damaging missense mutations

21 January 2018

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Babelomics: an integrative platform for the analysis of transcriptomics, proteomics and genomic data with advanced functional profiling

21 January 2018

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Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

21 January 2018

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Epilepsy and autism spectrum disorders: are there common developmental mechanisms?

21 January 2018

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

21 January 2018

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The 14-3-3 proteins in regulation of cellular metabolism.

21 January 2018

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Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

21 January 2018

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Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.106

Identification of YWHAE, a gene encoding 14-3-3epsilon, as a possible susceptibility gene for schizophrenia.

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Altered expression of 14-3-3 genes in the prefrontal cortex of subjects with schizophrenia.

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

21 January 2018

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Family-based association of YWHAH in psychotic bipolar disorder

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Meta-analysis of heterogeneous data sources for genome-scale identification of risk genes in complex phenotypes

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Neurodevelopmental and neuropsychiatric behaviour defects arise from 14-3-3ζ deficiency.

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

The neuroproteomics of schizophrenia.

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Drp2 and periaxin form Cajal bands with dystroglycan but have distinct roles in Schwann cell growth

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2013.106

Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.106

Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.106

14-3-3 proteins in neurological disorders.

21 January 2018

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12 December 2020

Monozygous twins with a microdeletion syndrome involving BTK, DDP1, and two other genes; evidence of intact dendritic cell development and TLR responses

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12 December 2020

[Analysis of de novo copy number variations in a family affected with autism spectrum disorders using high-resolution array-based comparative genomic hybridization].

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1038/MP.2013.106

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3 September 2017

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