Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy.
International Journal Of Molecular Sciences
Salakhov, Ramil R RR; Golubenko, Maria V MV; Valiakhmetov, Nail R NR; Pavlyukova, Elena N EN; Zarubin, Aleksei A AA; Babushkina, Nadezhda P NP; Kucher, Aksana N AN; Sleptcov, Aleksei A AA; Nazarenko, Maria S MS
Publication Date: 2022-12-13
Variant appearance in text: MYBPC3: 977G>A; rs34580776
Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.
Life (Basel, Switzerland)
Karim, Sajjad S; Saharti, Samah S; Alganmi, Nofe N; Mirza, Zeenat Z; Alfares, Ahmed A; Turkistany, Shereen S; Al-Attas, Manal M; Noureldin, Hend H; Al Sakkaf, Khadega K; Abusamra, Heba H; Al-Qahtani, Mohammed M; Abuzenadah, Adel A
Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.
Life (Basel, Switzerland)
Karim, Sajjad S; Saharti, Samah S; Alganmi, Nofe N; Mirza, Zeenat Z; Alfares, Ahmed A; Turkistany, Shereen S; Al-Attas, Manal M; Noureldin, Hend H; Al Sakkaf, Khadega K; Abusamra, Heba H; Al-Qahtani, Mohammed M; Abuzenadah, Adel A
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.
The Journal Of Biological Chemistry
Suay-Corredera, Carmen C; Pricolo, Maria Rosaria MR; Herrero-Galán, Elías E; Velázquez-Carreras, Diana D; Sánchez-Ortiz, David D; García-Giustiniani, Diego D; Delgado, Javier J; Galano-Frutos, Juan José JJ; García-Cebollada, Helena H; Vilches, Silvia S; Domínguez, Fernando F; Molina, María Sabater MS; Barriales-Villa, Roberto R; Frisso, Giulia G; Sancho, Javier J; Serrano, Luis L; García-Pavía, Pablo P; Monserrat, Lorenzo L; Alegre-Cebollada, Jorge J
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: 977G>A; R326Q; rs34580776
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
Publication Date: 2020
Variant appearance in text: MYBPC3: 977G>A; Arg326Gln
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
Publication Date: 2020-10
Variant appearance in text: MYBPC3: 977G>A; Arg326Gln
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
A study of the pathogenicity of variants in familial heart disease. The value of cosegregation.
American Journal Of Translational Research
García-Molina, Esperanza E; Sabater-Molina, María M; López-Cuenca, David D; Olmo, María C MC; Pérez, Inmaculada I; Muñoz Esparza, Carmen C; Gimeno Blanes, Juan R JR
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Esc Heart Failure
Jääskeläinen, Pertti P; Vangipurapu, Jagadish J; Raivo, Joose J; Kuulasmaa, Teemu T; Heliö, Tiina T; Aalto-Setälä, Katriina K; Kaartinen, Maija M; Ilveskoski, Erkki E; Vanninen, Sari S; Hämäläinen, Liisa L; Melin, John J; Kokkonen, Jorma J; Nieminen, Markku S MS; , ; Laakso, Markku M; Kuusisto, Johanna J
Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy.
Medicina (Kaunas, Lithuania)
Abdallah, Atiyeh M AM; Carlus, S Justin SJ; Al-Mazroea, Abdulhadi H AH; Alluqmani, Mohammad M; Almohammadi, Yousef Y; Bhuiyan, Zahurul A ZA; Al-Harbi, Khalid M KM
Analysis of selected genes associated with cardiomyopathy by next-generation sequencing.
Journal Of Clinical Laboratory Analysis
Szabadosova, Viktoria V; Boronova, Iveta I; Ferenc, Peter P; Tothova, Iveta I; Bernasovska, Jarmila J; Zigova, Michaela M; Kmec, Jan J; Bernasovsky, Ivan I
Publication Date: 2018-02
Variant appearance in text: MYBPC3: 977G>A; rs34580776
Using high-resolution variant frequencies to empower clinical genome interpretation.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Whiffin, Nicola N; Minikel, Eric E; Walsh, Roddy R; O'Donnell-Luria, Anne H AH; Karczewski, Konrad K; Ing, Alexander Y AY; Barton, Paul J R PJR; Funke, Birgit B; Cook, Stuart A SA; MacArthur, Daniel D; Ware, James S JS
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
International Journal Of Molecular Medicine
Cecconi, Massimiliano M; Parodi, Maria I MI; Formisano, Francesco F; Spirito, Paolo P; Autore, Camillo C; Musumeci, Maria B MB; Favale, Stefano S; Forleo, Cinzia C; Rapezzi, Claudio C; Biagini, Elena E; Davì, Sabrina S; Canepa, Elisabetta E; Pennese, Loredana L; Castagnetta, Mauro M; Degiorgio, Dario D; Coviello, Domenico A DA
Publication Date: 2016-10
Variant appearance in text: MYBPC3: 977G>A; Arg326Gln
Judge, Daniel P DP; Neamatalla, Hany H; Norris, Russell A RA; Levine, Robert A RA; Butcher, Jonathan T JT; Vignier, Nicolas N; Kang, Kevin H KH; Nguyen, Quangtung Q; Bruneval, Patrick P; Perier, Marie-Cécile MC; Messas, Emmanuel E; Jeunemaitre, Xavier X; de Vlaming, Annemarieke A; Markwald, Roger R; Carrier, Lucie L; Hagège, Albert A AA
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: R326Q; rs34580776
Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection.
Journal Of Clinical Bioinformatics
Stubbs, Andrew A; McClellan, Elizabeth A EA; Horsman, Sebastiaan S; Hiltemann, Saskia D SD; Palli, Ivo I; Nouwens, Stephan S; Koning, Anton Hj AH; Hoogland, Frits F; Reumers, Joke J; Heijsman, Daphne D; Swagemakers, Sigrid S; Kremer, Andreas A; Meijerink, Jules J; Lambrechts, Diether D; van der Spek, Peter J PJ
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
Circulation. Cardiovascular Genetics
Norton, Nadine N; Robertson, Peggy D PD; Rieder, Mark J MJ; Züchner, Stephan S; Rampersaud, Evadnie E; Martin, Eden E; Li, Duanxiang D; Nickerson, Deborah A DA; Hershberger, Ray E RE; ,
Publication Date: 2012-04-01
Variant appearance in text: MYBPC3: Arg326Gln; rs34580776
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
Clinical assessment incorporating a personal genome.
Lancet (London, England)
Ashley, Euan A EA; Butte, Atul J AJ; Wheeler, Matthew T MT; Chen, Rong R; Klein, Teri E TE; Dewey, Frederick E FE; Dudley, Joel T JT; Ormond, Kelly E KE; Pavlovic, Aleksandra A; Morgan, Alexander A AA; Pushkarev, Dmitry D; Neff, Norma F NF; Hudgins, Louanne L; Gong, Li L; Hodges, Laura M LM; Berlin, Dorit S DS; Thorn, Caroline F CF; Sangkuhl, Katrin K; Hebert, Joan M JM; Woon, Mark M; Sagreiya, Hersh H; Whaley, Ryan R; Knowles, Joshua W JW; Chou, Michael F MF; Thakuria, Joseph V JV; Rosenbaum, Abraham M AM; Zaranek, Alexander Wait AW; Church, George M GM; Greely, Henry T HT; Quake, Stephen R SR; Altman, Russ B RB
Publication Date: 2010-05-01
Variant appearance in text: MYBPC3: R326Q; rs34580776
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
Human Molecular Genetics
Gurnett, Christina A CA; Desruisseau, David M DM; McCall, Kevin K; Choi, Ryan R; Meyer, Zachary I ZI; Talerico, Michael M; Miller, Sara E SE; Ju, Jeong-Sun JS; Pestronk, Alan A; Connolly, Anne M AM; Druley, Todd E TE; Weihl, Conrad C CC; Dobbs, Mathew B MB
The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.
European Journal Of Human Genetics : Ejhg
Møller, Daniel Vega DV; Andersen, Paal Skytt PS; Hedley, Paula P; Ersbøll, Mads Kristian MK; Bundgaard, Henning H; Moolman-Smook, Johanna J; Christiansen, Michael M; Køber, Lars L
Shared genetic causes of cardiac hypertrophy in children and adults.
The New England Journal Of Medicine
Morita, Hiroyuki H; Rehm, Heidi L HL; Menesses, Andres A; McDonough, Barbara B; Roberts, Amy E AE; Kucherlapati, Raju R; Towbin, Jeffrey A JA; Seidman, J G JG; Seidman, Christine E CE