Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: DMD: E1784K; rs777864641
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.
Journal Of Arrhythmia
Wilde, Arthur A M AAM; Semsarian, Christopher C; Márquez, Manlio F MF; Sepehri Shamloo, Alireza A; Ackerman, Michael J MJ; Ashley, Euan A EA; Sternick Eduardo, Back B; Barajas-Martinez, Héctor H; Behr, Elijah R ER; Bezzina, Connie R CR; Breckpot, Jeroen J; Charron, Philippe P; Chockalingam, Priya P; Crotti, Lia L; Gollob, Michael H MH; Lubitz, Steven S; Makita, Naomasa N; Ohno, Seiko S; Ortiz-Genga, Martín M; Sacilotto, Luciana L; Schulze-Bahr, Eric E; Shimizu, Wataru W; Sotoodehnia, Nona N; Tadros, Rafik R; Ware, James S JS; Winlaw, David S DS; Kaufman, Elizabeth S ES; Aiba, Takeshi T; Bollmann, Andreas A; Choi, Jong-Il JI; Dalal, Aarti A; Darrieux, Francisco F; Giudicessi, John J; Guerchicoff, Mariana M; Hong, Kui K; Krahn, Andrew D AD; Mac Intyre, Ciorsti C; Mackall, Judith A JA; Mont, Lluís L; Napolitano, Carlo C; Ochoa Juan, Pablo P; Peichl, Petr P; Pereira, Alexandre C AC; Schwartz, Peter J PJ; Skinner, Jon J; Stellbrink, Christoph C; Tfelt-Hansen, Jacob J; Deneke, Thomas T
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.
Europace : European Pacing, Arrhythmias, And Cardiac Electrophysiology : Journal Of The Working Groups On Cardiac Pacing, Arrhythmias, And Cardiac Cellular Electrophysiology Of The European Society Of Cardiology
Wilde, Arthur A M AAM; Semsarian, Christopher C; Márquez, Manlio F MF; Shamloo, Alireza Sepehri AS; Ackerman, Michael J MJ; Ashley, Euan A EA; Sternick, Eduardo Back EB; Barajas-Martinez, Héctor H; Behr, Elijah R ER; Bezzina, Connie R CR; Breckpot, Jeroen J; Charron, Philippe P; Chockalingam, Priya P; Crotti, Lia L; Gollob, Michael H MH; Lubitz, Steven S; Makita, Naomasa N; Ohno, Seiko S; Ortiz-Genga, Martín M; Sacilotto, Luciana L; Schulze-Bahr, Eric E; Shimizu, Wataru W; Sotoodehnia, Nona N; Tadros, Rafik R; Ware, James S JS; Winlaw, David S DS; Kaufman, Elizabeth S ES; , ; Aiba, Takeshi T; Bollmann, Andreas A; Choi, Jong Il JI; Dalal, Aarti A; Darrieux, Francisco F; Giudicessi, John J; Guerchicoff, Mariana M; Hong, Kui K; Krahn, Andrew D AD; MacIntyre, Ciorsti C; Mackall, Judith A JA; Mont, Lluís L; Napolitano, Carlo C; Ochoa, Juan Pablo JP; Peichl, Petr P; Pereira, Alexandre C AC; Schwartz, Peter J PJ; Skinner, Jon J; Stellbrink, Christoph C; Tfelt-Hansen, Jacob J; Deneke, Thomas T; ,
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.
Plos One
Sahlin, Ellika E; Gréen, Anna A; Gustavsson, Peter P; Liedén, Agne A; Nordenskjöld, Magnus M; Papadogiannakis, Nikos N; Pettersson, Karin K; Nilsson, Daniel D; Jonasson, Jon J; Iwarsson, Erik E
Publication Date: 2019
Variant appearance in text: DMD: 5350G>A; Glu1784Lys