Publications:

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Significance of α-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases.

Journal Of Cardiovascular Development And Disease

Anfinson, Melissa M; Fitts, Robert H RH; Lough, John W JW; James, Jeanne M JM; Simpson, Pippa M PM; Handler, Stephanie S SS; Mitchell, Michael E ME; Tomita-Mitchell, Aoy A

Publication Date: 2022-05-03

Variant appearance in text: MYH6: K543R

PubMed Link: 35621855

Variant Present in the following documents:

• jcdd-09-00144.pdf

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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: MYH6: 1628A>G; Lys543Arg

PubMed Link: 33500567

Variant Present in the following documents:

• 41436_2020_1049_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH6: Lys543Arg

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

View BVdb publication page

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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation

Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R

Publication Date: 2020-02-04

Variant appearance in text: MYH6: 1628A>G; Lys543Arg

PubMed Link: 31983221

Variant Present in the following documents:

• cir-141-387-s002.xlsx, sheet 4
• cir-141-387-s002.xlsx, sheet 7

View BVdb publication page

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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: MYH6: 1628A>G; Lys543Arg; rs367663906

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.

Omics : A Journal Of Integrative Biology

Thomford, Nicholas Ekow NE; Dzobo, Kevin K; Yao, Nana Akyaa NA; Chimusa, Emile E; Evans, Jonathan J; Okai, Emmanuel E; Kruszka, Paul P; Muenke, Maximilian M; Awandare, Gordon G; Wonkam, Ambroise A; Dandara, Collet C

Publication Date: 2018-05

Variant appearance in text: MYH6: 1628A>G; K543R

PubMed Link: 29762087

Variant Present in the following documents:

• Main text

View BVdb publication page

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A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.

European Journal Of Human Genetics : Ejhg

El Malti, Rajae R; Liu, Hui H; Doray, Bérénice B; Thauvin, Christel C; Maltret, Alice A; Dauphin, Claire C; Gonçalves-Rocha, Miguel M; Teboul, Michel M; Blanchet, Patricia P; Roume, Joëlle J; Gronier, Céline C; Ducreux, Corinne C; Veyrier, Magali M; Marçon, François F; Acar, Philippe P; Lusson, Jean-René JR; Levy, Marilyne M; Beyler, Constance C; Vigneron, Jacqueline J; Cordier-Alex, Marie-Pierre MP; Heitz, François F; Sanlaville, Damien D; Bonnet, Damien D; Bouvagnet, Patrice P

Publication Date: 2016-02

Variant appearance in text: MYH6: Lys543Arg

PubMed Link: 26014430

Variant Present in the following documents:

• Main text

View BVdb publication page

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Heavy and light roles: myosin in the morphogenesis of the heart.

Cellular And Molecular Life Sciences : Cmls

England, Jennifer J; Loughna, Siobhan S

Publication Date: 2013-04

Variant appearance in text: MYH6: K543R

PubMed Link: 22955375

Variant Present in the following documents:

• Main text
• 18_2012_Article_1131.pdf

View BVdb publication page

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Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

Plos One

Posch, Maximilian G MG; Waldmuller, Stephan S; Müller, Melanie M; Scheffold, Thomas T; Fournier, David D; Andrade-Navarro, Miguel A MA; De Geeter, Bernard B; Guillaumont, Sophie S; Dauphin, Claire C; Yousseff, Dany D; Schmitt, Katharina R KR; Perrot, Andreas A; Berger, Felix F; Hetzer, Roland R; Bouvagnet, Patrice P; Özcelik, Cemil C

Publication Date: 2011

Variant appearance in text: MYH6: 1628A>G; K543R

PubMed Link: 22194935

Variant Present in the following documents:

• Main text
• pone.0028872.pdf
• pone.0028872.s001.pdf

View BVdb publication page

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