Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Medrxiv : The Preprint Server For Health Sciences
Josephs, Katherine S KS; Roberts, Angharad M AM; Theotokis, Pantazis P; Walsh, Roddy R; Ostrowski, Philip J PJ; Edwards, Matthew M; Fleming, Andrew A; Thaxton, Courtney C; Roberts, Jason D JD; Care, Melanie M; Zareba, Wojciech W; Adler, Arnon A; Sturm, Amy C AC; Tadros, Rafik R; Novelli, Valeria V; Owens, Emma E; Bronicki, Lucas L; Jarinova, Olga O; Callewaert, Bert B; Peters, Stacey S; Lumbers, Tom T; Jordan, Elizabeth E; Asatryan, Babken B; Krishnan, Neesha N; Hershberger, Ray E RE; Chahal, C Anwar A CAA; Landstrom, Andrew P AP; James, Cynthia C; McNally, Elizabeth M EM; Judge, Daniel P DP; van Tintelen, Peter P; Wilde, Arthur A; Gollob, Michael M; Ingles, Jodie J; Ware, James S JS
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.
Basic Research In Cardiology
Jiang, He H; Hooper, Charlotte C; Kelly, Matthew M; Steeples, Violetta V; Simon, Jillian N JN; Beglov, Julia J; Azad, Amar J AJ; Leinhos, Lisa L; Bennett, Pauline P; Ehler, Elisabeth E; Kalisch-Smith, Jacinta I JI; Sparrow, Duncan B DB; Fischer, Roman R; Heilig, Raphael R; Isackson, Henrik H; Ehsan, Mehroz M; Patone, Giannino G; Huebner, Norbert N; Davies, Benjamin B; Watkins, Hugh H; Gehmlich, Katja K
Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.
Basic Research In Cardiology
Jiang, He H; Hooper, Charlotte C; Kelly, Matthew M; Steeples, Violetta V; Simon, Jillian N JN; Beglov, Julia J; Azad, Amar J AJ; Leinhos, Lisa L; Bennett, Pauline P; Ehler, Elisabeth E; Kalisch-Smith, Jacinta I JI; Sparrow, Duncan B DB; Fischer, Roman R; Heilig, Raphael R; Isackson, Henrik H; Ehsan, Mehroz M; Patone, Giannino G; Huebner, Norbert N; Davies, Benjamin B; Watkins, Hugh H; Gehmlich, Katja K
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathologica
Rees, Martin M; Nikoopour, Roksana R; Fukuzawa, Atsushi A; Kho, Ay Lin AL; Fernandez-Garcia, Miguel A MA; Wraige, Elizabeth E; Bodi, Istvan I; Deshpande, Charu C; Özdemir, Özkan Ö; Daimagüler, Hülya-Sevcan HS; Pfuhl, Mark M; Holt, Mark M; Brandmeier, Birgit B; Grover, Sarah S; Fluss, Joël J; Longman, Cheryl C; Farrugia, Maria Elena ME; Matthews, Emma E; Hanna, Michael M; Muntoni, Francesco F; Sarkozy, Anna A; Phadke, Rahul R; Quinlivan, Ros R; Oates, Emily C EC; Schröder, Rolf R; Thiel, Christian C; Reimann, Jens J; Voermans, Nicol N; Erasmus, Corrie C; Kamsteeg, Erik-Jan EJ; Konersman, Chaminda C; Grosmann, Carla C; McKee, Shane S; Tirupathi, Sandya S; Moore, Steven A SA; Wilichowski, Ekkehard E; Hobbiebrunken, Elke E; Dekomien, Gabriele G; Richard, Isabelle I; Van den Bergh, Peter P; Domínguez-González, Cristina C; Cirak, Sebahattin S; Ferreiro, Ana A; Jungbluth, Heinz H; Gautel, Mathias M
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.
Circulation. Cardiovascular Genetics
Hastings, Robert R; de Villiers, Carin P CP; Hooper, Charlotte C; Ormondroyd, Liz L; Pagnamenta, Alistair A; Lise, Stefano S; Salatino, Silvia S; Knight, Samantha J L SJ; Taylor, Jenny C JC; Thomson, Kate L KL; Arnold, Linda L; Chatziefthimiou, Spyros D SD; Konarev, Petr V PV; Wilmanns, Matthias M; Ehler, Elisabeth E; Ghisleni, Andrea A; Gautel, Mathias M; Blair, Edward E; Watkins, Hugh H; Gehmlich, Katja K