Publications:

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: TTN: 41249T>C

PubMed Link: 28771489

Variant Present in the following documents:

• pone.0181465.s004.xlsx, sheet 1

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TTN: 41249T>C

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Letter to the editor regarding the article "A case of hypertrophic and dilated cardiomyopathic sudden cardiac death: de novo mutation in TTN and SGCD genes".

Anatolian Journal Of Cardiology

Ergören, Mahmut Çerkez MÇ; Temel, Sehime Gülsün SG

Publication Date: 2017-01

Variant appearance in text: TTN: 41249T>C

PubMed Link: 28144010

Variant Present in the following documents:

• Main text
• AJC-17-76.pdf

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Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.

Molecular Genetics & Genomic Medicine

Ceyhan-Birsoy, Ozge O; Pugh, Trevor J TJ; Bowser, Mark J MJ; Hynes, Elizabeth E; Frisella, Ashley L AL; Mahanta, Lisa M LM; Lebo, Matt S MS; Amr, Sami S SS; Funke, Birgit H BH

Publication Date: 2016-03

Variant appearance in text: TTN: 41249T>C

PubMed Link: 27066507

Variant Present in the following documents:

• Main text
• MGG3-4-143.pdf

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