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: DSP: 2815G>A; Gly939Ser
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05
Variant appearance in text: DSP: G939S; rs80325569
Proteogenomics connects somatic mutations to signalling in breast cancer.
Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02
Variant appearance in text: DSP: G939S; rs80325569
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015
Variant appearance in text: DSP: 2815G>A; Gly939Ser; rs80325569
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Nature Genetics
Taylor, Jenny C JC; Martin, Hilary C HC; Lise, Stefano S; Broxholme, John J; Cazier, Jean-Baptiste JB; Rimmer, Andy A; Kanapin, Alexander A; Lunter, Gerton G; Fiddy, Simon S; Allan, Chris C; Aricescu, A Radu AR; Attar, Moustafa M; Babbs, Christian C; Becq, Jennifer J; Beeson, David D; Bento, Celeste C; Bignell, Patricia P; Blair, Edward E; Buckle, Veronica J VJ; Bull, Katherine K; Cais, Ondrej O; Cario, Holger H; Chapel, Helen H; Copley, Richard R RR; Cornall, Richard R; Craft, Jude J; Dahan, Karin K; Davenport, Emma E EE; Dendrou, Calliope C; Devuyst, Olivier O; Fenwick, Aimée L AL; Flint, Jonathan J; Fugger, Lars L; Gilbert, Rodney D RD; Goriely, Anne A; Green, Angie A; Greger, Ingo H IH; Grocock, Russell R; Gruszczyk, Anja V AV; Hastings, Robert R; Hatton, Edouard E; Higgs, Doug D; Hill, Adrian A; Holmes, Chris C; Howard, Malcolm M; Hughes, Linda L; Humburg, Peter P; Johnson, David D; Karpe, Fredrik F; Kingsbury, Zoya Z; Kini, Usha U; Knight, Julian C JC; Krohn, Jonathan J; Lamble, Sarah S; Langman, Craig C; Lonie, Lorne L; Luck, Joshua J; McCarthy, Davis D; McGowan, Simon J SJ; McMullin, Mary Frances MF; Miller, Kerry A KA; Murray, Lisa L; Németh, Andrea H AH; Nesbit, M Andrew MA; Nutt, David D; Ormondroyd, Elizabeth E; Oturai, Annette Bang AB; Pagnamenta, Alistair A; Patel, Smita Y SY; Percy, Melanie M; Petousi, Nayia N; Piazza, Paolo P; Piret, Sian E SE; Polanco-Echeverry, Guadalupe G; Popitsch, Niko N; Powrie, Fiona F; Pugh, Chris C; Quek, Lynn L; Robbins, Peter A PA; Robson, Kathryn K; Russo, Alexandra A; Sahgal, Natasha N; van Schouwenburg, Pauline A PA; Schuh, Anna A; Silverman, Earl E; Simmons, Alison A; Sørensen, Per Soelberg PS; Sweeney, Elizabeth E; Taylor, John J; Thakker, Rajesh V RV; Tomlinson, Ian I; Trebes, Amy A; Twigg, Stephen Rf SR; Uhlig, Holm H HH; Vyas, Paresh P; Vyse, Tim T; Wall, Steven A SA; Watkins, Hugh H; Whyte, Michael P MP; Witty, Lorna L; Wright, Ben B; Yau, Chris C; Buck, David D; Humphray, Sean S; Ratcliffe, Peter J PJ; Bell, John I JI; Wilkie, Andrew Om AO; Bentley, David D; Donnelly, Peter P; McVean, Gilean G