Publications:

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: Gln3243Ter

PubMed Link: 33110626

Variant Present in the following documents:

• Main text
• 41525_2020_Article_153.pdf

View BVdb publication page

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: TTN: 9727C>T; Gln3243Ter

PubMed Link: 31983221

Variant Present in the following documents:

• cir-141-387-s002.xlsx, sheet 4

View BVdb publication page

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

Science Translational Medicine

Roberts, Angharad M AM; Ware, James S JS; Herman, Daniel S DS; Schafer, Sebastian S; Baksi, John J; Bick, Alexander G AG; Buchan, Rachel J RJ; Walsh, Roddy R; John, Shibu S; Wilkinson, Samuel S; Mazzarotto, Francesco F; Felkin, Leanne E LE; Gong, Sungsam S; MacArthur, Jacqueline A L JA; Cunningham, Fiona F; Flannick, Jason J; Gabriel, Stacey B SB; Altshuler, David M DM; Macdonald, Peter S PS; Heinig, Matthias M; Keogh, Anne M AM; Hayward, Christopher S CS; Banner, Nicholas R NR; Pennell, Dudley J DJ; O'Regan, Declan P DP; San, Tan Ru TR; de Marvao, Antonio A; Dawes, Timothy J W TJ; Gulati, Ankur A; Birks, Emma J EJ; Yacoub, Magdi H MH; Radke, Michael M; Gotthardt, Michael M; Wilson, James G JG; O'Donnell, Christopher J CJ; Prasad, Sanjay K SK; Barton, Paul J R PJ; Fatkin, Diane D; Hubner, Norbert N; Seidman, Jonathan G JG; Seidman, Christine E CE; Cook, Stuart A SA

Publication Date: 2015-01-14

Variant appearance in text: TTN: 9727C>T

PubMed Link: 25589632

Variant Present in the following documents:

• Main text

View BVdb publication page