(Q36184604)

12 August 2017

Next-generation sequencing in X-linked intellectual disability (English)

1 reference

X-linked intellectual disability

12 August 2017

0 references

0 references

26

Olaf Riess

1 reference

12 August 2017

Andreas Tzschach

1

1 reference

12 August 2017

Ute Grasshoff

2

1 reference

12 August 2017

Stefanie Beck-Woedl

3

1 reference

12 August 2017

Claudia Dufke

4

1 reference

12 August 2017

Claudia Bauer

5

1 reference

12 August 2017

Martin Kehrer

6

1 reference

12 August 2017

Christina Evers

7

1 reference

12 August 2017

Ute Moog

8

1 reference

12 August 2017

Barbara Oehl-Jaschkowitz

9

1 reference

12 August 2017

Nataliya Di Donato

10

1 reference

12 August 2017

Robert Maiwald

11

1 reference

12 August 2017

Christine Jung

12

1 reference

12 August 2017

Alma Kuechler

13

1 reference

12 August 2017

Solveig Schulz

14

1 reference

12 August 2017

Peter Meinecke

15

1 reference

12 August 2017

Stephanie Spranger

16

1 reference

12 August 2017

Jürgen Kohlhase

17

1 reference

12 August 2017

Jörg Seidel

18

1 reference

12 August 2017

Silke Reif

19

1 reference

12 August 2017

Manuela Rieger

20

1 reference

12 August 2017

Angelika Riess

21

1 reference

12 August 2017

Marc Sturm

22

1 reference

12 August 2017

Julia Bickmann

23

1 reference

12 August 2017

Christopher Schroeder

24

1 reference

12 August 2017

Andreas Dufke

25

1 reference

12 August 2017

Peter Bauer

27

1 reference

12 August 2017

4 February 2015

1 reference

European Journal of Human Genetics

12 August 2017

1 reference

12 August 2017

23

1 reference

12 August 2017

11

1 reference

12 August 2017

1513-1518

1 reference

De novo mutations in epileptic encephalopathies

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Disease-targeted sequencing: a cornerstone in the clinic

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Genetic basis of intellectual disability

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Fragile X and X-linked intellectual disability: four decades of discovery

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Genetics of Early Onset Cognitive Impairment

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Escape from X chromosome inactivation is an intrinsic property of the Jarid1c locus

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

The epidemiology of mental retardation: challenges and opportunities in the new millennium

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

The DXS423E gene in Xp11.21 escapes X chromosome inactivation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613482

Novel SLC9A6 mutations in two families with Christianson syndrome

1 October 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25649377

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2015.5

1 reference

release_7ecolf4xffezzi2he7vnlfc224

12 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7ecolf4xffezzi2he7vnlfc224

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

12 August 2017

PubMed publication ID

25649377

1 reference