Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Human Genomics
Al Anazi, Abdulrahman H AH; Ammar, Ahmed S AS; Al-Hajj, Mahmoud M; Cyrus, Cyril C; Aljaafari, Danah D; Khoda, Iname I; Abdelfatah, Ahmed K AK; Alsulaiman, Abdullah A AA; Alanazi, Firas F; Alanazi, Rawan R; Gandla, Divya D; Lad, Hetal H; Barayan, Samar S; Keating, Brendan J BJ; Al-Ali, Amein K AK
Publication Date: 2022-12-20
Variant appearance in text: GRIN2A: 2899G>C; Val967Leu; rs61731465
Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia.
Translational Psychiatry
Mojarad, Bahareh A BA; Yin, Yue Y; Manshaei, Roozbeh R; Backstrom, Ian I; Costain, Gregory G; Heung, Tracy T; Merico, Daniele D; Marshall, Christian R CR; Bassett, Anne S AS; Yuen, Ryan K C RKC
Publication Date: 2021-02-01
Variant appearance in text: GRIN2A: 2899G>C; V967L
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.
Neurobiology Of Aging
Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,
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: GRIN2A: 2899G>C; V967L; rs61731465