Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Alexander Y Ing"'
Autor:
Euan A. Ashley, Ray E. Hershberger, Luisa Mestroni, Matteo Dal Ferro, Sharon L. Graw, Kristen McCaleb, Davide Stolfo, Lars M. Steinmetz, Chloe M. Reuter, Christopher Semsarian, Daniel P. Judge, Colleen Caleshu, Victoria N. Parikh, Stuart A. Cook, Robert L. Nussbaum, Matthew T. Wheeler, Marco Merlo, Benjamin Meder, Marta Gigli, Alexander Y Ing, Birgit Funke, John Garcia, Matthew R.G. Taylor, Tolulope Adesiyun, Laura C. Lazzeroni, Farbod Sedaghat-Hamedani, Jodie Ingles, Gianfranco Sinagra, Saurabh Kumar, Neal K. Lakdawala
Publikováno v:
Circulation: Heart Failure. 12
Background Variants in the cardiomyocyte-specific RNA splicing factor RBM20 have been linked to familial cardiomyopathy, but the causative genetic architecture and clinical consequences of this disease are incompletely defined. Methods and Results To
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::522985294e8a4329512bd2a23b759dcc
https://doi.org/10.1161/circheartfailure.118.005371
https://doi.org/10.1161/circheartfailure.118.005371
Autor:
Nicola, Whiffin, Eric, Minikel, Roddy, Walsh, Anne H, O'Donnell-Luria, Konrad, Karczewski, Alexander Y, Ing, Paul J R, Barton, Birgit, Funke, Stuart A, Cook, Daniel, MacArthur, James S, Ware
Publikováno v:
Genetics in Medicine
Purpose Whole-exome and whole-genome sequencing have transformed the discovery of genetic variants that cause human Mendelian disease, but discriminating pathogenic from benign variants remains a daunting challenge. Rarity is recognized as a necessar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b4c49005d2466906b90cb84d38bc954c
https://pubmed.ncbi.nlm.nih.gov/28518168
https://pubmed.ncbi.nlm.nih.gov/28518168
Autor:
Eric Vallabh Minikel, Nicola Whiffin, Roddy Walsh, Birgit Funke, Daniel G. MacArthur, Stuart A. Cook, Paul J.R. Barton, Konrad J. Karczewski, Alexander Y Ing, Anne H. O’Donnell-Luria, James S. Ware
Purpose: Whole exome and genome sequencing have transformed the discovery of genetic variants that cause human Mendelian disease, but discriminating pathogenic from benign variants remains a daunting challenge. Rarity is recognised as a necessary, al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b3ed055e8f5ea1a3468c50a435f7a30
