(Q30478683)

21 September 2017

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate (English)

1 reference

21 September 2017

1 reference

9

Leslie G Biesecker

1 reference

21 September 2017

8

James C Mullikin

1 reference

21 September 2017

Jennifer J Johnston

1

1 reference

21 September 2017

Jamie K Teer

2

1 reference

21 September 2017

Praveen F Cherukuri

3

1 reference

21 September 2017

Nancy F Hansen

4

1 reference

21 September 2017

Stacie K Loftus

5

1 reference

21 September 2017

NIH Intramural Sequencing Center (NISC)

6

1 reference

21 September 2017

Karen Chong

7

1 reference

21 September 2017

language of work or name

English

0 references

publication date

6 May 2010

1 reference

American Journal of Human Genetics

21 September 2017

1 reference

21 September 2017

86

1 reference

21 September 2017

5

1 reference

21 September 2017

743-748

1 reference

Exome sequencing identifies the cause of a mendelian disorder

21 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868995

Inactive X chromosome-specific histone H3 modifications and CpG hypomethylation flank a chromatin boundary between an X-inactivated and an escape gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868995

Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868995

Comparison of melanoblast expression patterns identifies distinct classes of genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868995

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868995

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868995

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868995

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868995

An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868995

A novel gene, DXS8237E, lies within 20 kb upstream of UBE1 in Xp11.23 and has a different X inactivation status

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868995

Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868995

Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20451169

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20451169

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

RNA binding motif (RBM) proteins: a novel family of apoptosis modulators?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20451169

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.04.007

1 reference

21 September 2017

1 reference

21 September 2017

PubMed publication ID

20451169

1 reference