Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.
Life (Basel, Switzerland)
Karim, Sajjad S; Saharti, Samah S; Alganmi, Nofe N; Mirza, Zeenat Z; Alfares, Ahmed A; Turkistany, Shereen S; Al-Attas, Manal M; Noureldin, Hend H; Al Sakkaf, Khadega K; Abusamra, Heba H; Al-Qahtani, Mohammed M; Abuzenadah, Adel A
Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.
Life (Basel, Switzerland)
Karim, Sajjad S; Saharti, Samah S; Alganmi, Nofe N; Mirza, Zeenat Z; Alfares, Ahmed A; Turkistany, Shereen S; Al-Attas, Manal M; Noureldin, Hend H; Al Sakkaf, Khadega K; Abusamra, Heba H; Al-Qahtani, Mohammed M; Abuzenadah, Adel A
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.
The Journal Of Biological Chemistry
Suay-Corredera, Carmen C; Pricolo, Maria Rosaria MR; Herrero-Galán, Elías E; Velázquez-Carreras, Diana D; Sánchez-Ortiz, David D; García-Giustiniani, Diego D; Delgado, Javier J; Galano-Frutos, Juan José JJ; García-Cebollada, Helena H; Vilches, Silvia S; Domínguez, Fernando F; Molina, María Sabater MS; Barriales-Villa, Roberto R; Frisso, Giulia G; Sancho, Javier J; Serrano, Luis L; García-Pavía, Pablo P; Monserrat, Lorenzo L; Alegre-Cebollada, Jorge J
Translational investigation of electrophysiology in hypertrophic cardiomyopathy.
Journal Of Molecular And Cellular Cardiology
Flenner, Frederik F; Jungen, Christiane C; Küpker, Nadine N; Ibel, Antonia A; Kruse, Martin M; Koivumäki, Jussi T JT; Rinas, Anna A; Zech, Antonia T L ATL; Rhoden, Alexandra A; Wijnker, Paul J M PJM; Lemoine, Marc D MD; Steenpass, Anna A; Girdauskas, Evaldas E; Eschenhagen, Thomas T; Meyer, Christian C; van der Velden, Jolanda J; Patten-Hamel, Monica M; Christ, Torsten T; Carrier, Lucie L
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.
Circulation. Genomic And Precision Medicine
Helms, Adam S AS; Thompson, Andrea D AD; Glazier, Amelia A AA; Hafeez, Neha N; Kabani, Samat S; Rodriguez, Juliani J; Yob, Jaime M JM; Woolcock, Helen H; Mazzarotto, Francesco F; Lakdawala, Neal K NK; Wittekind, Samuel G SG; Pereira, Alexandre C AC; Jacoby, Daniel L DL; Colan, Steven D SD; Ashley, Euan A EA; Saberi, Sara S; Ware, James S JS; Ingles, Jodie J; Semsarian, Christopher C; Michels, Michelle M; Olivotto, Iacopo I; Ho, Carolyn Y CY; Day, Sharlene M SM
Publication Date: 2020-10
Variant appearance in text: MYBPC3: 2234A>G; Asp745Gly
Analysis of Contractile Function of Permeabilized Human Hypertrophic Cardiomyopathy Multicellular Heart Tissue.
Frontiers In Physiology
Kresin, Nico N; Stücker, Sabrina S; Krämer, Elisabeth E; Flenner, Frederik F; Mearini, Giulia G; Münch, Julia J; Patten, Monica M; Redwood, Charles C; Carrier, Lucie L; Friedrich, Felix W FW
Publication Date: 2019
Variant appearance in text: MYBPC3: 2234A>G; Asp745Gly
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02
Variant appearance in text: MYBPC3: 2234A>G; Asp745Gly
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.
European Journal Of Human Genetics : Ejhg
Verhagen, Judith M A JMA; Veldman, Job H JH; van der Zwaag, Paul A PA; von der Thüsen, Jan H JH; Brosens, Erwin E; Christiaans, Imke I; Dooijes, Dennis D; Helderman-van den Enden, Apollonia T J M ATJM; Lekanne Deprez, Ronald H RH; Michels, Michelle M; van Mil, Anneke M AM; Oldenburg, Rogier A RA; van der Smagt, Jasper J JJ; van den Wijngaard, Arthur A; Wessels, Marja W MW; Hofstra, Robert M W RMW; van Slegtenhorst, Marjon A MA; Jongbloed, Jan D H JDH; van de Laar, Ingrid M B H IMBH
Publication Date: 2018-11
Variant appearance in text: MYBPC3: 2234A>G; Asp745Gly
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.
European Journal Of Human Genetics : Ejhg
Wessels, Marja W MW; Herkert, Johanna C JC; Frohn-Mulder, Ingrid M IM; Dalinghaus, Michiel M; van den Wijngaard, Arthur A; de Krijger, Ronald R RR; Michels, Michelle M; de Coo, Irenaeus Fm IF; Hoedemaekers, Yvonne M YM; Dooijes, Dennis D
Publication Date: 2015-07
Variant appearance in text: MYBPC3: 2234A>G; Asp745Gly