Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: KCNQ1: 898G>A; Ala300Thr
Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.
Medrxiv : The Preprint Server For Health Sciences
, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF
Publication Date: 2023-02-24
Variant appearance in text: KCNQ1: 898G>A; Ala300Thr
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Nature Communications
Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01
Variant appearance in text: KCNQ1: 898G>A; Ala300Thr
Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.
International Journal Of Molecular Sciences
Agudelo, William A WA; Gil-Quiñones, Sebastian Ramiro SR; Fonseca, Alejandra A; Arenas, Alvaro A; Castro, Laura L; Sierra-Díaz, Diana Carolina DC; Patarroyo, Manuel A MA; Laissue, Paul P; Suárez, Carlos F CF; Cabrera, Rodrigo R
Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.
International Journal Of Molecular Sciences
Agudelo, William A WA; Gil-Quiñones, Sebastian Ramiro SR; Fonseca, Alejandra A; Arenas, Alvaro A; Castro, Laura L; Sierra-Díaz, Diana Carolina DC; Patarroyo, Manuel A MA; Laissue, Paul P; Suárez, Carlos F CF; Cabrera, Rodrigo R
Novel polygenetic variants evidenced in a patient with Jervell and Lange-Nielsen syndrome.
Cardiology Journal
Cepeda-Nieto, Ana Cecilia AC; Zamora-Alemán, Carlos Ramiro CR; Cortes-Aguirre, Mauricio M; Valdés-Charles, Roberto R; Rojas-Sánchez, Cesar C; Salinas-Santander, Mauricio Andrés MA; Hu, Dan D; Barajas-Martinez, Hector H
Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation.
Elife
Kuenze, Georg G; Vanoye, Carlos G CG; Desai, Reshma R RR; Adusumilli, Sneha S; Brewer, Kathryn R KR; Woods, Hope H; McDonald, Eli F EF; Sanders, Charles R CR; George, Alfred L AL; Meiler, Jens J
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR
Publication Date: 2021-01
Variant appearance in text: KCNQ1: 898G>A; Ala300Thr
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Ebiomedicine
Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Coll, Mónica M; Iglesias, Anna A; Ferrer-Costa, Carles C; Cesar, Sergi S; Arbelo, Elena E; García-Álvarez, Ana A; Jordà, Paloma P; Toro, Rocío R; Tiron de Llano, Coloma C; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R
Publication Date: 2020-04
Variant appearance in text: KCNQ1: 898G>A; Ala300Thr; rs120074187
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: KCNQ1: 898G>A; Ala300Thr; rs120074187
Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation.
Heartrhythm Case Reports
Paquin, Ashley A; Ye, Dan D; Tester, David J DJ; Kapplinger, Jamie D JD; Zimmermann, Michael T MT; Ackerman, Michael J MJ
Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.
Heart Rhythm
Clemens, Daniel J DJ; Lentino, Anne R AR; Kapplinger, Jamie D JD; Ye, Dan D; Zhou, Wei W; Tester, David J DJ; Ackerman, Michael J MJ
Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.
Circulation. Cardiovascular Genetics
Li, Bian B; Mendenhall, Jeffrey L JL; Kroncke, Brett M BM; Taylor, Keenan C KC; Huang, Hui H; Smith, Derek K DK; Vanoye, Carlos G CG; Blume, Jeffrey D JD; George, Alfred L AL; Sanders, Charles R CR; Meiler, Jens J
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
Circulation
Kapa, Suraj S; Tester, David J DJ; Salisbury, Benjamin A BA; Harris-Kerr, Carole C; Pungliya, Manish S MS; Alders, Marielle M; Wilde, Arthur A M AA; Ackerman, Michael J MJ
Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel.
Biochemistry
Kang, Congbao C; Tian, Changlin C; Sönnichsen, Frank D FD; Smith, Jarrod A JA; Meiler, Jens J; George, Alfred L AL; Vanoye, Carlos G CG; Kim, Hak Jun HJ; Sanders, Charles R CR