(Q33399905)

26 July 2017

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome (English)

1 reference

26 July 2017

1 reference

13

1 reference

26 July 2017

Myrto Kostadima

9

0 references

Ana Cvejic

Ana Cvejic

8

0 references

Dirk S Paul

Dirk S Paul

2

0 references

Willem H. Ouwehand

Willem H Ouwehand

30

0 references

Paul Bertone

Paul Bertone

10

0 references

Kathleen Freson

Kathleen Freson

4

0 references

Cedric Ghevaert

Cedric Ghevaert

31

0 references

Ruth Newbury-Ecob

29

Ruth Newbury-Ecob

1 reference

26 July 2017

Cornelis A Albers

1

1 reference

26 July 2017

Harald Schulze

3

1 reference

26 July 2017

Jonathan C Stephens

5

1 reference

26 July 2017

Peter A Smethurst

6

1 reference

26 July 2017

Jennifer D Jolley

7

1 reference

26 July 2017

Martijn H Breuning

11

1 reference

26 July 2017

Najet Debili

12

1 reference

26 July 2017

Rémi Favier

14

1 reference

26 July 2017

Janine Fiedler

15

1 reference

26 July 2017

Catherine M Hobbs

16

1 reference

26 July 2017

Ni Huang

17

1 reference

26 July 2017

Matthew E Hurles

18

1 reference

26 July 2017

Graham Kiddle

19

1 reference

26 July 2017

Ingrid Krapels

20

1 reference

26 July 2017

Paquita Nurden

21

1 reference

26 July 2017

Claudia A L Ruivenkamp

22

1 reference

26 July 2017

Jennifer G Sambrook

23

1 reference

26 July 2017

Kenneth Smith

24

1 reference

26 July 2017

Derek L Stemple

25

1 reference

26 July 2017

Gabriele Strauss

26

1 reference

26 July 2017

Chantal Thys

27

1 reference

26 July 2017

Chris van Geet

28

1 reference

26 July 2017

language of work or name

English

0 references

publication date

26 February 2012

1 reference

26 July 2017

1 reference

26 July 2017

44

1 reference

26 July 2017

4

1 reference

26 July 2017

435-9, S1-2

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.1083

26 July 2017

0 references

cites work

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Genome-wide analysis of simultaneous GATA1/2, RUNX1, FLI1, and SCL binding in megakaryocytes identifies hematopoietic regulators.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

The GENCODE exome: sequencing the complete human exome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Integrative genomics viewer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

A map of human genome variation from population-scale sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Regulation of vertebrate embryogenesis by the exon junction complex core component Eif4a3.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Fast and SNP-tolerant detection of complex variants and splicing in short reads

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

ShortRead: a bioconductor package for input, quality assessment and exploration of high-throughput sequence data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

rtracklayer: an R package for interfacing with genome browsers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Isolation of active regulatory elements from eukaryotic chromatin using FAIRE (Formaldehyde Assisted Isolation of Regulatory Elements).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

A HaemAtlas: characterizing gene expression in differentiated human blood cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

NMD is essential for hematopoietic stem and progenitor cells and for eliminating by-products of programmed DNA rearrangements

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

-391 C to G substitution in the regulator of G-protein signalling-2 promoter increases susceptibility to the metabolic syndrome in white European men: consistency between molecular and epidemiological studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

MatInspector and beyond: promoter analysis based on transcription factor binding sites

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

An eIF4AIII-containing complex required for mRNA localization and nonsense-mediated mRNA decay

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Exon junction complexes mediate the enhancing effect of splicing on mRNA expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Thrombocytopenia-absent radius syndrome: a clinical genetic study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Transcript profiling of human platelets using microarray and serial analysis of gene expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Drosophila Y14 shuttles to the posterior of the oocyte and is required for oskar mRNA transport

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

The exon-exon junction complex provides a binding platform for factors involved in mRNA export and nonsense-mediated mRNA decay

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Thrombocytopenia with absent radius (TAR).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428915

Patterns of Evi-1 expression in embryonic and adult tissues suggest that Evi-1 plays an important regulatory role in mouse development

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22366785

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR)

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.1083

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.1083

1 reference

Dimensions Publication ID

26 July 2017

0 references

1 reference

26 July 2017

1 reference