(Q34495555)

2 August 2017

title

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci (English)

1 reference

2 August 2017

main subject

autism spectrum disorder

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0 references

43

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2 August 2017

41

Christa Lese Martin

1 reference

2 August 2017

Daniel Moreno-De-Luca

16

Daniel Moreno-De-Luca

1 reference

2 August 2017

Tor Solli-Nowlan

20

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Donna Werling

Donna M Werling

24

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Elise B Robinson

Elise B Robinson

18

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Kaitlin E Samocha

Kaitlin E Samocha

5

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Stephan J. Sanders

Stephan J Sanders

1

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Timothy W Yu

Timothy W Yu

38

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Eric M. Morrow

Eric M Morrow

34

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Michael E. Talkowski

Michael E Talkowski

35

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James S. Sutcliffe

James S Sutcliffe

36

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Kathryn Roeder

Kathryn Roeder

46

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Éric Fombonne

Eric Fombonne

27

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Catherine Lord

30

Catherine Lord

1 reference

2 August 2017

28

Daniel H Geschwind

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2 August 2017

42

Edwin H Cook

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2 August 2017

14

Lambertus Klei

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2 August 2017

44

Mark J Daly

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2 August 2017

37

Christopher A Walsh

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2 August 2017

26

Rita M Cantor

1 reference

2 August 2017

40

David H Ledbetter

1 reference

2 August 2017

15

Jeffrey D Mandell

1 reference

Autism Sequencing Consortium

2 August 2017

39

Autism Sequencing Consortium

1 reference

2 August 2017

29

Dorothy E Grice

1 reference

2 August 2017

Christopher S Poultney

17

Christopher S Poultney

1 reference

2 August 2017

19

Louw Smith

1 reference

2 August 2017

Xin He

2

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2 August 2017

A Jeremy Willsey

3

1 reference

2 August 2017

A Gulhan Ercan-Sencicek

4

1 reference

2 August 2017

A Ercument Cicek

6

1 reference

2 August 2017

Michael T Murtha

7

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2 August 2017

Vanessa H Bal

8

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2 August 2017

Somer L Bishop

9

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2 August 2017

Shan Dong

10

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2 August 2017

Arthur P Goldberg

11

1 reference

2 August 2017

Cai Jinlu

12

1 reference

2 August 2017

John F Keaney

13

1 reference

2 August 2017

Mack Y Su

21

1 reference

2 August 2017

Nicole A Teran

22

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2 August 2017

Michael F Walker

23

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2 August 2017

Arthur L Beaudet

25

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2 August 2017

Jennifer K Lowe

31

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2 August 2017

Shrikant M Mane

32

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2 August 2017

Donna M Martin

33

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2 August 2017

Bernie Devlin

45

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2 August 2017

Matthew W State

47

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2 August 2017

language of work or name

English

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publication date

1 September 2015

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2 August 2017

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2 August 2017

volume

87

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2 August 2017

issue

6

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2 August 2017

page(s)

1215-1233

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Excess of rare, inherited truncating mutations in autism

2 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Increased female autosomal burden of rare copy number variants in human populations and in autism families.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Integrated systems analysis reveals a molecular network underlying autism spectrum disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Genotype to phenotype relationships in autism spectrum disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

The contribution of de novo coding mutations to autism spectrum disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Synaptic, transcriptional and chromatin genes disrupted in autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Autism spectrum disorder severity reflects the average contribution of de novo and familial influences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Refining analyses of copy number variation identifies specific genes associated with developmental delay

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

A framework for the interpretation of de novo mutation in human disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Copy number variation in schizophrenia in Sweden

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

CNVs conferring risk of autism or schizophrenia affect cognition in controls

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Transmission disequilibrium of small CNVs in simplex autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Genic intolerance to functional variation and the interpretation of personal genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

De Novo Gene Disruptions in Children on the Autistic Spectrum

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

The Simons Simplex Collection: a resource for identification of autism genetic risk factors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

De novo rates and selection of large copy number variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Structural variation of chromosomes in autism spectrum disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Recurrent 16p11.2 microdeletions in autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

PLINK: a tool set for whole-genome association and population-based linkage analyses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Strong association of de novo copy number mutations with autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

DAVID: Database for Annotation, Visualization, and Integrated Discovery

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Contiguous gene syndromes: a component of recognizable syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Large-scale discovery of novel genetic causes of developmental disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4624267

10.1016/J.NEURON.2015.09.016

27 October 2018

Identifiers

DOI

1 reference

2 August 2017

1 reference

2 August 2017

1 reference