(Q34039999)

30 July 2017

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

1 reference

neurodevelopmental disorder

30 July 2017

1 reference

Michael H Duyzend

4

0 references

Jacques S Beckmann

object named as

Jacques S Beckmann

7

0 references

Sven Bergmann

6

object named as

Sven Bergmann

1 reference

30 July 2017

9

Evan E Eichler

1 reference

30 July 2017

8

Jill A Rosenfeld

1 reference

30 July 2017

5

Niklas Krumm

1 reference

30 July 2017

Sébastien Jacquemont

1

1 reference

30 July 2017

Bradley P Coe

2

1 reference

30 July 2017

Micha Hersch

3

1 reference

30 July 2017

language of work or name

English

0 references

publication date

27 February 2014

1 reference

American Journal of Human Genetics

30 July 2017

1 reference

30 July 2017

94

1 reference

30 July 2017

3

1 reference

30 July 2017

415-425

1 reference

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

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Clinical significance of de novo and inherited copy-number variation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Transmission disequilibrium of small CNVs in simplex autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Examining and interpreting the female protective effect against autistic behavior

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Estimates of penetrance for recurrent pathogenic copy-number variations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Utilizing graph theory to select the largest set of unrelated individuals for genetic analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

De Novo Gene Disruptions in Children on the Autistic Spectrum

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

A copy number variation morbidity map of developmental delay

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Why are autism spectrum conditions more prevalent in males?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Fast and accurate short read alignment with Burrows-Wheeler transform

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Epidemiology of Pervasive Developmental Disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Population analysis of large copy number variants and hotspots of human genetic disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Lack of evidence for increased genetic loading for autism among families of affected females: a replication from family history data in two large samples

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

A gene atlas of the mouse and human protein-encoding transcriptomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

The extreme male brain theory of autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

How different are girls and boys above and below the diagnostic threshold for autism spectrum disorders?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Sex differences in children with autism spectrum disorder identified within a high-risk infant cohort.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Sex differences in repetitive stereotyped behaviors in autism: implications for genetic liability

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Social and demographic factors that influence the diagnosis of autistic spectrum disorders

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Observed classroom behavior of children with ADHD: relationship to gender and comorbidity.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951938

Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24581740

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.02.001

1 reference

30 July 2017

1 reference

30 July 2017

1 reference