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
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: TTN: 95297C>T; S31766F
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
Orphanet Journal Of Rare Diseases
Semmler, Anna-Lena AL; Sacconi, Sabrina S; Bach, J Elisa JE; Liebe, Claus C; Bürmann, Jan J; Kley, Rudolf A RA; Ferbert, Andreas A; Anderheiden, Roland R; Van den Bergh, Peter P; Martin, Jean-Jacques JJ; De Jonghe, Peter P; Neuen-Jacob, Eva E; Müller, Oliver O; Deschauer, Marcus M; Bergmann, Markus M; Schröder, J Michael JM; Vorgerd, Matthias M; Schulz, Jörg B JB; Weis, Joachim J; Kress, Wolfram W; Claeys, Kristl G KG
Publication Date: 2014-08-01
Variant appearance in text: TTN: 95297C>T; Ser31766Phe; rs191484894