(Q37492561)

20 August 2017

Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy (English)

1 reference

20 August 2017

0 references

13

Dan M Roden

1 reference

20 August 2017

Quinn S Wells

1

1 reference

20 August 2017

Jason R Becker

2

1 reference

20 August 2017

Yan R Su

3

1 reference

20 August 2017

Jonathan D Mosley

4

1 reference

20 August 2017

Peter Weeke

5

1 reference

20 August 2017

Laura D'Aoust

6

1 reference

20 August 2017

Natalie L Ausborn

7

1 reference

20 August 2017

Andrea H Ramirez

8

1 reference

20 August 2017

Jean P Pfotenhauer

9

1 reference

20 August 2017

Allen J Naftilan

10

1 reference

20 August 2017

Larry Markham

11

1 reference

20 August 2017

Vernat Exil

12

1 reference

20 August 2017

Charles C Hong

14

1 reference

20 August 2017

16 July 2013

1 reference

Circulation: Cardiovascular Genetics

20 August 2017

1 reference

20 August 2017

6

1 reference

20 August 2017

4

1 reference

20 August 2017

317-326

1 reference

Penetrance rate estimation in autosomal dominant conditions

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Exome sequencing as a tool for Mendelian disease gene discovery

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

A probabilistic disease-gene finder for personal genomes.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

A map of human genome variation from population-scale sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Robust relationship inference in genome-wide association studies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

A method and server for predicting damaging missense mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Exome sequencing identifies the cause of a mendelian disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Targeted capture and massively parallel sequencing of 12 human exomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Fast and accurate short read alignment with Burrows-Wheeler transform

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Dilated cardiomyopathy: a review.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Distribution and intensity of constraint in mammalian genomic sequence

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

PENCALC: A program for penetrance estimation in autosomal dominant diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Exact genetic linkage computations for general pedigrees

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Frequency and phenotypes of familial dilated cardiomyopathy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895490

Genetics of dilated cardiomyopathy

3 December 2018

1 reference

12 December 2020

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy

1 reference

12 December 2020

Splicing and dilated cardiomyopathy one gene to rule them all?

1 reference

12 December 2020

Familial dilated cardiomyopathy

1 reference

12 December 2020

10.1161/CIRCGENETICS.113.000011

Identifiers

DOI

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

23861363

1 reference