Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy.
Diagnostics (Basel, Switzerland)
Micheu, Miruna Mihaela MM; Popa-Fotea, Nicoleta-Monica NM; Oprescu, Nicoleta N; Bogdan, Stefan S; Dan, Monica M; Deaconu, Alexandru A; Dorobantu, Lucian L; Gheorghe-Fronea, Oana O; Greavu, Maria M; Iorgulescu, Corneliu C; Scafa-Udriste, Alexandru A; Ticulescu, Razvan R; Vatasescu, Radu Gabriel RG; Dorobanțu, Maria M
Publication Date: 2020-12-07
Variant appearance in text: MYBPC3: 3413G>C; Arg1138Pro; rs187705120
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
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: MYBPC3: 3413G>C; Arg1138Pro
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
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Plos One
Mademont-Soler, Irene I; Mates, Jesus J; Yotti, Raquel R; Espinosa, Maria Angeles MA; Pérez-Serra, Alexandra A; Fernandez-Avila, Ana Isabel AI; Coll, Monica M; Méndez, Irene I; Iglesias, Anna A; Del Olmo, Bernat B; Riuró, Helena H; Cuenca, Sofía S; Allegue, Catarina C; Campuzano, Oscar O; Picó, Ferran F; Ferrer-Costa, Carles C; Álvarez, Patricia P; Castillo, Sergio S; Garcia-Pavia, Pablo P; Gonzalez-Lopez, Esther E; Padron-Barthe, Laura L; Díaz de Bustamante, Aranzazu A; Darnaude, María Teresa MT; González-Hevia, José Ignacio JI; Brugada, Josep J; Fernandez-Aviles, Francisco F; Brugada, Ramon R
Publication Date: 2017
Variant appearance in text: MYBPC3: 3413G>C; R1138P; rs187705120