Publications:

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: C539R

PubMed Link: 35621855

Variant Present in the following documents:

• jcdd-09-00144.pdf

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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: 1615T>C; C539R

PubMed Link: 29762087

Variant Present in the following documents:

• Main text

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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: Cys539Arg

PubMed Link: 26014430

Variant Present in the following documents:

• Main text

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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: C539R

PubMed Link: 22955375

Variant Present in the following documents:

• Main text
• 18_2012_Article_1131.pdf

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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: 1615T>C; C539R

PubMed Link: 22194935

Variant Present in the following documents:

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

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