(Q54491858)

30 May 2018

title

Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. (English)

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30 May 2018

Wolff–Parkinson–White syndrome

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8

Susan P Etheridge

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30 May 2018

author name string

Neil E Bowles

1

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30 May 2018

Chuanchau J Jou

2

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30 May 2018

Cammon B Arrington

3

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30 May 2018

Brett J Kennedy

4

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30 May 2018

Aubree Earl

5

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30 May 2018

Norisada Matsunami

6

1 reference

30 May 2018

Lindsay L Meyers

7

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30 May 2018

Elizabeth V Saarel

9

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30 May 2018

Steven B Bleyl

10

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30 May 2018

H Joseph Yost

11

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30 May 2018

Mark Yandell

12

1 reference

30 May 2018

Mark F Leppert

13

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30 May 2018

Martin Tristani-Firouzi

14

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30 May 2018

Peter J Gruber

15

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30 May 2018

Baylor Hopkins Centers for Mendelian Genomics

16

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30 May 2018

language of work or name

English

0 references

publication date

18 August 2015

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30 May 2018

American Journal of Medical Genetics

published in

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30 May 2018

volume

167A

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30 May 2018

issue

12

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30 May 2018

page(s)

2975-2984

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30 May 2018

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.

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4 June 2018

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4 June 2018

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4 June 2018

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4 June 2018

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4 June 2018

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Exome analysis of a family with pleiotropic congenital heart disease.

4 June 2018

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Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

4 June 2018

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4 June 2018

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

4 June 2018

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4 June 2018

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A rare variant in MYH6 is associated with high risk of sick sinus syndrome

4 June 2018

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4 June 2018

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α-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

4 June 2018

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A method and server for predicting damaging missense mutations

4 June 2018

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MicroRNA-208a is a regulator of cardiac hypertrophy and conduction in mice.

4 June 2018

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

4 June 2018

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The Sequence Alignment/Map format and SAMtools

4 June 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

4 June 2018

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4 June 2018

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Researches on the Structure and Function of the Mammalian Heart

4 June 2018

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Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome

4 June 2018

1 reference

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Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

4 June 2018

1 reference

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Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy

4 June 2018

1 reference

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Mutation in myosin heavy chain 6 causes atrial septal defect

4 June 2018

1 reference

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Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

4 June 2018

1 reference

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Identification of a gene responsible for familial Wolff-Parkinson-White syndrome

4 June 2018

1 reference

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4 June 2018

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4 June 2018

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MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia

4 June 2018

1 reference

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Complete nucleotide and encoded amino acid sequence of a mammalian myosin heavy chain gene. Evidence against intron-dependent evolution of the rod.

4 June 2018

1 reference

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MiRNA-208a and miRNA-208b are triggered in thyroid hormone-induced cardiac hypertrophy - role of type 1 Angiotensin II receptor (AT1R) on miRNA-208a/α-MHC modulation.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896306

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

13 August 2018

1 reference

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Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896306

Two strategies for sequence comparison: profile-preprocessed and secondary structure-induced multiple alignment.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896306

Familial Wolff-Parkinson-White syndrome with cardiomyopathy

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896306

Prevalence and course of Wolf-Parkinson-White syndrome in a population of 138,048 subjects

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896306

Several common variants modulate heart rate, PR interval and QRS duration

13 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.37297

Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy

21 January 2018

1 reference

PubMed

12 December 2020

Hereditary occurrence of the pre-excitation (Wolff-Parkinson-White) syndrome with re-entry mechanism and concealed conduction.

1 reference

PubMed

12 December 2020

1 reference

12 December 2020

Familial occurrence of Wolff-Parkinson-White syndrome

1 reference

PubMed

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.37297

1 reference

30 May 2018

release_ky7o5husxrcp5grumvyscj3t4u

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ky7o5husxrcp5grumvyscj3t4u

24 November 2022

mapped directly with Wikidata item

PMC publication ID

4896306

1 reference

30 May 2018

PubMed publication ID

26284702

1 reference

30 May 2018