Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.
International Journal Of Legal Medicine
Martinez-Barrios, Estefanía E; Sarquella-Brugada, Georgia G; Perez-Serra, Alexandra A; Fernandez-Falgueras, Anna A; Cesar, Sergi S; Alcalde, Mireia M; Coll, Mónica M; Puigmulé, Marta M; Iglesias, Anna A; Ferrer-Costa, Carles C; Del Olmo, Bernat B; Picó, Ferran F; Lopez, Laura L; Fiol, Victoria V; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Díez-Escuté, Nuria N; Cerralbo, Patricia P; Grassi, Simone S; Oliva, Antonio A; Toro, Rocío R; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O
Publication Date: 2023-01-25
Variant appearance in text: MYH7: 611G>A; Arg204His
Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15
Variant appearance in text: MYH7: 611G>A; Arg204His
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.
Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Jama Cardiology
Yoneda, Zachary T ZT; Anderson, Katherine C KC; Quintana, Joseph A JA; O'Neill, Matthew J MJ; Sims, Richard A RA; Glazer, Andrew M AM; Shaffer, Christian M CM; Crawford, Diane M DM; Stricker, Thomas T; Ye, Fei F; Wells, Quinn Q; Stevenson, Lynne W LW; Michaud, Gregory F GF; Darbar, Dawood D; Lubitz, Steven A SA; Ellinor, Patrick T PT; Roden, Dan M DM; Shoemaker, M Benjamin MB
Publication Date: 2021-12-01
Variant appearance in text: MYH7: 611G>A; Arg204His
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18
Variant appearance in text: MYH7: 611G>A; Arg204His
Spatially interacting phosphorylation sites and mutations in cancer.
Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.
Journal Of The American Heart Association
Puckelwartz, Megan J MJ; Pesce, Lorenzo L LL; Dellefave-Castillo, Lisa M LM; Wheeler, Matthew T MT; Pottinger, Tess D TD; Robinson, Avery C AC; Kearns, Samuel D SD; Gacita, Anthony M AM; Schoppen, Zachary J ZJ; Pan, Wenyu W; Kim, Gene G; Wilcox, Jane E JE; Anderson, Allen S AS; Ashley, Euan A EA; Day, Sharlene M SM; Cappola, Thomas T; Dorn, Gerald W GW; McNally, Elizabeth M EM
Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry.
Circulation
Marstrand, Peter P; Han, Larry L; Day, Sharlene M SM; Olivotto, Iacopo I; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Wittekind, Samuel G SG; Helms, Adam A; Saberi, Sara S; Jacoby, Daniel D; Ware, James S JS; Colan, Steven D SD; Semsarian, Christopher C; Ingles, Jodie J; Lakdawala, Neal K NK; Ho, Carolyn Y CY; ,
Publication Date: 2020-04-28
Variant appearance in text: MYH7: 611G>A; Arg204His
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
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
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).
Circulation
Ho, Carolyn Y CY; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Cirino, Allison L AL; Fox, Jonathan C JC; Lakdawala, Neal K NK; Ware, James S JS; Caleshu, Colleen A CA; Helms, Adam S AS; Colan, Steven D SD; Girolami, Francesca F; Cecchi, Franco F; Seidman, Christine E CE; Sajeev, Gautam G; Signorovitch, James J; Green, Eric M EM; Olivotto, Iacopo I
Publication Date: 2018-10-02
Variant appearance in text: MYH7: 611G>A; Arg204His
MHC class II restricted neoantigen peptides predicted by clonal mutation analysis in lung adenocarcinoma patients: implications on prognostic immunological biomarker and vaccine design.
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Human Genomics
Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.
Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Citrullination of myofilament proteins in heart failure.
Cardiovascular Research
Fert-Bober, Justyna J; Giles, John T JT; Holewinski, Ronald J RJ; Kirk, Jonathan A JA; Uhrigshardt, Helge H; Crowgey, Erin L EL; Andrade, Felipe F; Bingham, Clifton O CO; Park, Jin Kyun JK; Halushka, Marc K MK; Kass, David A DA; Bathon, Joan M JM; Van Eyk, Jennifer E JE
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L