Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
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: 64208C>T; Thr21403Ile
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: TTN: T21403I; rs2042996
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.
Plos One
Esslinger, Ulrike U; Garnier, Sophie S; Korniat, Agathe A; Proust, Carole C; Kararigas, Georgios G; Müller-Nurasyid, Martina M; Empana, Jean-Philippe JP; Morley, Michael P MP; Perret, Claire C; Stark, Klaus K; Bick, Alexander G AG; Prasad, Sanjay K SK; Kriebel, Jennifer J; Li, Jin J; Tiret, Laurence L; Strauch, Konstantin K; O'Regan, Declan P DP; Marguiles, Kenneth B KB; Seidman, Jonathan G JG; Boutouyrie, Pierre P; Lacolley, Patrick P; Jouven, Xavier X; Hengstenberg, Christian C; Komajda, Michel M; Hakonarson, Hakon H; Isnard, Richard R; Arbustini, Eloisa E; Grallert, Harald H; Cook, Stuart A SA; Seidman, Christine E CE; Regitz-Zagrosek, Vera V; Cappola, Thomas P TP; Charron, Philippe P; Cambien, François F; Villard, Eric E
Publication Date: 2017
Variant appearance in text: TTN: Thr21403Ile; rs2042996
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11
Variant appearance in text: TTN: T21403I; rs2042996