Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.
Biomolecules
Lippi, Melania M; Chiesa, Mattia M; Ascione, Ciro C; Pedrazzini, Matteo M; Mushtaq, Saima S; Rovina, Davide D; Riggio, Daniela D; Di Blasio, Anna Maria AM; Biondi, Maria Luisa ML; Pompilio, Giulio G; Colombo, Gualtiero I GI; Casella, Michela M; Novelli, Valeria V; Sommariva, Elena E
Transmission Distortion of MCT1 rs1049434 among Polish Elite Athletes.
Genes
Dzitkowska-Zabielska, Magdalena M; Bojarczuk, Aleksandra A; Borczyk, Małgorzata M; Piechota, Marcin M; Korostyński, Michał M; Adamczyk, Jakub Grzegorz JG; Trybek, Grzegorz G; Massidda, Myosotis M; Cięszczyk, Paweł P
Genetics and sports performance: the present and future in the identification of talent for sports based on DNA testing.
European Journal Of Applied Physiology
Varillas-Delgado, David D; Del Coso, Juan J; Gutiérrez-Hellín, Jorge J; Aguilar-Navarro, Millán M; Muñoz, Alejandro A; Maestro, Antonio A; Morencos, Esther E
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
European Heart Journal
Marston, Nicholas A NA; Han, Larry L; Olivotto, Iacopo I; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Ingles, Jodie J; Semsarian, Christopher C; Jacoby, Daniel D; Colan, Steven D SD; Rossano, Joseph W JW; Wittekind, Samuel G SG; Ware, James S JS; Saberi, Sara S; Helms, Adam S AS; Ho, Carolyn Y CY
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: MYBPC3: 3288G>A; E1096E; rs1052373
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.
Npj Genomic Medicine
Aguib, Yasmine Y; Allouba, Mona M; Afify, Alaa A; Halawa, Sarah S; El-Khatib, Mohamed M; Sous, Marina M; Galal, Aya A; Abdelrahman, Eslam E; Shehata, Nairouz N; El Sawy, Amr A; Elmaghawry, Mohamed M; Anwer, Shehab S; Kamel, Omnia O; El Mozy, Wesam W; Khedr, Hadir H; Kharabish, Ahmed A; Thabet, Nagwa N; Theotokis, Pantazis I PI; Buchan, Rachel R; Govind, Risha R; Whiffin, Nicola N; Walsh, Roddy R; Aguib, Heba H; Elguindy, Ahmed A; O'Regan, Declan P DP; Cook, Stuart A SA; Barton, Paul J PJ; Ware, James S JS; Yacoub, Magdi M
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.
Circulation. Genomic And Precision Medicine
Helms, Adam S AS; Thompson, Andrea D AD; Glazier, Amelia A AA; Hafeez, Neha N; Kabani, Samat S; Rodriguez, Juliani J; Yob, Jaime M JM; Woolcock, Helen H; Mazzarotto, Francesco F; Lakdawala, Neal K NK; Wittekind, Samuel G SG; Pereira, Alexandre C AC; Jacoby, Daniel L DL; Colan, Steven D SD; Ashley, Euan A EA; Saberi, Sara S; Ware, James S JS; Ingles, Jodie J; Semsarian, Christopher C; Michels, Michelle M; Olivotto, Iacopo I; Ho, Carolyn Y CY; Day, Sharlene M SM
Genome-Wide Association Study Reveals a Novel Association Between MYBPC3 Gene Polymorphism, Endurance Athlete Status, Aerobic Capacity and Steroid Metabolism.
Frontiers In Genetics
Al-Khelaifi, Fatima F; Yousri, Noha A NA; Diboun, Ilhame I; Semenova, Ekaterina A EA; Kostryukova, Elena S ES; Kulemin, Nikolay A NA; Borisov, Oleg V OV; Andryushchenko, Liliya B LB; Larin, Andrey K AK; Generozov, Edward V EV; Miyamoto-Mikami, Eri E; Murakami, Haruka H; Zempo, Hirofumi H; Miyachi, Motohiko M; Takaragawa, Mizuki M; Kumagai, Hiroshi H; Naito, Hisashi H; Fuku, Noriyuki N; Abraham, David D; Hingorani, Aroon A; Donati, Francesco F; Botrè, Francesco F; Georgakopoulos, Costas C; Suhre, Karsten K; Ahmetov, Ildus I II; Albagha, Omar O; Elrayess, Mohamed A MA
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; ,
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: MYBPC3: E1096E; rs1052373
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin.
American Journal Of Human Genetics
Liu, Ching-Ti CT; Raghavan, Sridharan S; Maruthur, Nisa N; Kabagambe, Edmond Kato EK; Hong, Jaeyoung J; Ng, Maggie C Y MC; Hivert, Marie-France MF; Lu, Yingchang Y; An, Ping P; Bentley, Amy R AR; Drolet, Anne M AM; Gaulton, Kyle J KJ; Guo, Xiuqing X; Armstrong, Loren L LL; Irvin, Marguerite R MR; Li, Man M; Lipovich, Leonard L; Rybin, Denis V DV; Taylor, Kent D KD; Agyemang, Charles C; Palmer, Nicholette D ND; Cade, Brian E BE; Chen, Wei-Min WM; Dauriz, Marco M; Delaney, Joseph A C JA; Edwards, Todd L TL; Evans, Daniel S DS; Evans, Michele K MK; Lange, Leslie A LA; Leong, Aaron A; Liu, Jingmin J; Liu, Yongmei Y; Nayak, Uma U; Patel, Sanjay R SR; Porneala, Bianca C BC; Rasmussen-Torvik, Laura J LJ; Snijder, Marieke B MB; Stallings, Sarah C SC; Tanaka, Toshiko T; Yanek, Lisa R LR; Zhao, Wei W; Becker, Diane M DM; Bielak, Lawrence F LF; Biggs, Mary L ML; Bottinger, Erwin P EP; Bowden, Donald W DW; Chen, Guanjie G; Correa, Adolfo A; Couper, David J DJ; Crawford, Dana C DC; Cushman, Mary M; Eicher, John D JD; Fornage, Myriam M; Franceschini, Nora N; Fu, Yi-Ping YP; Goodarzi, Mark O MO; Gottesman, Omri O; Hara, Kazuo K; Harris, Tamara B TB; Jensen, Richard A RA; Johnson, Andrew D AD; Jhun, Min A MA; Karter, Andrew J AJ; Keller, Margaux F MF; Kho, Abel N AN; Kizer, Jorge R JR; Krauss, Ronald M RM; Langefeld, Carl D CD; Li, Xiaohui X; Liang, Jingling J; Liu, Simin S; Lowe, William L WL; Mosley, Thomas H TH; North, Kari E KE; Pacheco, Jennifer A JA; Peyser, Patricia A PA; Patrick, Alan L AL; Rice, Kenneth M KM; Selvin, Elizabeth E; Sims, Mario M; Smith, Jennifer A JA; Tajuddin, Salman M SM; Vaidya, Dhananjay D; Wren, Mary P MP; Yao, Jie J; Zhu, Xiaofeng X; Ziegler, Julie T JT; Zmuda, Joseph M JM; Zonderman, Alan B AB; Zwinderman, Aeilko H AH; , ; , ; , ; , ; , ; Adeyemo, Adebowale A; Boerwinkle, Eric E; Ferrucci, Luigi L; Hayes, M Geoffrey MG; Kardia, Sharon L R SL; Miljkovic, Iva I; Pankow, James S JS; Rotimi, Charles N CN; Sale, Michele M MM; Wagenknecht, Lynne E LE; Arnett, Donna K DK; Chen, Yii-Der Ida YD; Nalls, Michael A MA; , ; Province, Michael A MA; Kao, W H Linda WH; Siscovick, David S DS; Psaty, Bruce M BM; Wilson, James G JG; Loos, Ruth J F RJ; Dupuis, Josée J; Rich, Stephen S SS; Florez, Jose C JC; Rotter, Jerome I JI; Morris, Andrew P AP; Meigs, James B JB
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: MYBPC3: E1096E; rs1052373
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
Plos One
Posch, Maximilian G MG; Waldmuller, Stephan S; Müller, Melanie M; Scheffold, Thomas T; Fournier, David D; Andrade-Navarro, Miguel A MA; De Geeter, Bernard B; Guillaumont, Sophie S; Dauphin, Claire C; Yousseff, Dany D; Schmitt, Katharina R KR; Perrot, Andreas A; Berger, Felix F; Hetzer, Roland R; Bouvagnet, Patrice P; Özcelik, Cemil C
Publication Date: 2011
Variant appearance in text: MYBPC3: 3288G>A; E1096E; rs1052373
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.
Journal Of Cellular Physiology
Roncarati, Roberta R; Latronico, Michael V G MV; Musumeci, Beatrice B; Aurino, Stefania S; Torella, Annalaura A; Bang, Marie-Louise ML; Jotti, Gloria Saccani GS; Puca, Annibale A AA; Volpe, Massimo M; Nigro, Vincenzo V; Autore, Camillo C; Condorelli, Gianluigi G