Publications:

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: MYBPC3: 1334C>T; T445M

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation

Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R

Publication Date: 2020-02-04

Variant appearance in text: MYBPC3: 1334C>T; Thr445Met

PubMed Link: 31983221

Variant Present in the following documents:

• cir-141-387-s002.xlsx, sheet 3

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Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.

Journal Of The American Heart Association

Ramchand, Jay J; Wallis, Mathew M; Macciocca, Ivan I; Lynch, Elly E; Farouque, Omar O; Martyn, Melissa M; Phelan, Dean D; Chong, Belinda B; Lockwood, Siobhan S; Weintraub, Robert R; Thompson, Tina T; Trainer, Alison A; Zentner, Dominica D; Vohra, Jitendra J; Chetrit, Michael M; Hare, David L DL; James, Paul P

Publication Date: 2020-01-21

Variant appearance in text: MYBPC3: 1334C>T

PubMed Link: 31931689

Variant Present in the following documents:

• JAH3-9-e013346-s001.pdf

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Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Journal Of Cardiovascular Translational Research

Kassem, Heba Sh HSh; Azer, Remon S RS; Saber-Ayad, Maha M; Ayad, Maha S MS; Moharem-Elgamal, Sarah S; Magdy, Gehan G; Elguindy, Ahmed A; Cecchi, Franco F; Olivotto, Iacopo I; Yacoub, Magdi H MH

Publication Date: 2013-02

Variant appearance in text: MYBPC3: Thr445Met

PubMed Link: 23233322

Variant Present in the following documents:

• Main text
• 12265_2012_Article_9425.pdf

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