Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: TTN: K34293E; rs72629783

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Molecular Genetics & Genomic Medicine

Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X

Publication Date: 2021-07

Variant appearance in text: TTN: 102877A>G; Lys34293Glu

PubMed Link: 34137518

Variant Present in the following documents:

• MGG3-9-e1709-s003.xlsx, sheet 1

View BVdb publication page

Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Molecular Genetics & Genomic Medicine

Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X

Publication Date: 2021-07

Variant appearance in text: TTN: 102877A>G; Lys34293Glu

PubMed Link: 34137518

Variant Present in the following documents:

• MGG3-9-e1709-s003.xlsx, sheet 1

View BVdb publication page

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: TTN: 102877A>G; Lys34293Glu

PubMed Link: 33110626

Variant Present in the following documents:

• 41525_2020_153_MOESM1_ESM.pdf

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Role of Titin Missense Variants in Dilated Cardiomyopathy.

Journal Of The American Heart Association

Begay, Rene L RL; Graw, Sharon S; Sinagra, Gianfranco G; Merlo, Marco M; Slavov, Dobromir D; Gowan, Katherine K; Jones, Kenneth L KL; Barbati, Giulia G; Spezzacatene, Anita A; Brun, Francesca F; Di Lenarda, Andrea A; Smith, John E JE; Granzier, Henk L HL; Mestroni, Luisa L; Taylor, Matthew M; ,

Publication Date: 2015-11-13

Variant appearance in text: TTN: 102877A>G; Lys34293Glu

PubMed Link: 26567375

Variant Present in the following documents:

• Main text
• JAH3-4-e002645.pdf

View BVdb publication page