Publications:

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Mazzarotto, Francesco F; Hawley, Megan H MH; Beltrami, Matteo M; Beekman, Leander L; de Marvao, Antonio A; McGurk, Kathryn A KA; Statton, Ben B; Boschi, Beatrice B; Girolami, Francesca F; Roberts, Angharad M AM; Lodder, Elisabeth M EM; Allouba, Mona M; Romeih, Soha S; Aguib, Yasmine Y; Baksi, A John AJ; Pantazis, Antonis A; Prasad, Sanjay K SK; Cerbai, Elisabetta E; Yacoub, Magdi H MH; O'Regan, Declan P DP; Cook, Stuart A SA; Ware, James S JS; Funke, Birgit B; Olivotto, Iacopo I; Bezzina, Connie R CR; Barton, Paul J R PJR; Walsh, Roddy R

Publication Date: 2021-05

Variant appearance in text: MYH7: 4125T>A; Tyr1375X

PubMed Link: 33500567

Variant Present in the following documents:

• Main text
• 41436_2020_1049_MOESM2_ESM.xlsx, sheet 2
• 41436_2020_Article_1049.pdf

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Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

Journal Of The American Heart Association

van Waning, Jaap I JI; Moesker, Joost J; Heijsman, Daphne D; Boersma, Eric E; Majoor-Krakauer, Danielle D

Publication Date: 2019-12-03

Variant appearance in text: MYH7: 4125T>A; Tyr1375*

PubMed Link: 31771441

Variant Present in the following documents:

• JAH3-8-e012993.pdf
• JAH3-8-e012993-s001.pdf

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: MYH7: 4125T>A; Tyr1375*

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Potential genetic predisposition for anthracycline-associated cardiomyopathy in families with dilated cardiomyopathy.

Open Heart

Wasielewski, Marijke M; van Spaendonck-Zwarts, Karin Y KY; Westerink, Nico-Derk L ND; Jongbloed, Jan D H JD; Postma, Aleida A; Gietema, Jourik A JA; van Tintelen, J Peter JP; van den Berg, Maarten P MP

Publication Date: 2014

Variant appearance in text: MYH7: 4125T>A; Tyr1375X

PubMed Link: 25332820

Variant Present in the following documents:

• Main text
• openhrt-2014-000116.pdf

View BVdb publication page