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
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.
Journal Of Clinical Immunology
Partanen, Terhi T; Chen, Jie J; Lehtonen, Johanna J; Kuismin, Outi O; Rusanen, Harri H; Vapalahti, Olli O; Vaheri, Antti A; Anttila, Veli-Jukka VJ; Bode, Michaela M; Hautala, Nina N; Vuorinen, Tytti T; Glumoff, Virpi V; Kraatari, Minna M; Åström, Pirjo P; Saarela, Janna J; Kauma, Heikki H; Lorenzo, Lazaro L; Casanova, Jean-Laurent JL; Zhang, Shen-Ying SY; Seppänen, Mikko M; Hautala, Timo T
Latency and interval therapy affect the evolution in metastatic colorectal cancer.
Scientific Reports
Nikbakht, Hamid H; Jessa, Selin S; Sukhai, Mahadeo A MA; Arseneault, Madeleine M; Zhang, Tong T; Letourneau, Louis L; Thomas, Mariam M; Bourgey, Mathieu M; Roehrl, Michael H A MHA; Eveleigh, Robert R; Chen, Eric X EX; Krzyzanowska, Monika M; Moore, Malcolm J MJ; Giesler, Amanda A; Yu, Celeste C; Bedard, Philippe L PL; Kamel-Reid, Suzanne S; Majewski, Jacek J; Siu, Lillian L LL; Riazalhosseini, Yasser Y; Graham, Donna M DM
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.
Circulation
Norrish, Gabrielle G; Jager, Joanna J; Field, Ella E; Quinn, Ellie E; Fell, Hannah H; Lord, Emma E; Cicerchia, Marcos N MN; Ochoa, Juan Pablo JP; Cervi, Elena E; Elliott, Perry M PM; Kaski, Juan Pablo JP
Publication Date: 2019-07-16
Variant appearance in text: MYBPC3: 3413G>A; Arg1138His
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
Publication Date: 2019-04
Variant appearance in text: MYBPC3: 3413G>A; Arg1138His
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
Publication Date: 2019-02
Variant appearance in text: MYBPC3: 3413G>A; Arg1138His
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015
Variant appearance in text: MYBPC3: 3413G>A; Arg1138His; rs187705120
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