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: RELN: 8798C>T; Thr2933Ile; rs201656873
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
Orphanet Journal Of Rare Diseases
Barclay, Sarah F SF; Rand, Casey M CM; Borch, Lauren A LA; Nguyen, Lisa L; Gray, Paul A PA; Gibson, William T WT; Wilson, Richard J A RJ; Gordon, Paul M K PM; Aung, Zaw Z; Berry-Kravis, Elizabeth M EM; Ize-Ludlow, Diego D; Weese-Mayer, Debra E DE; Bech-Hansen, N Torben NT