Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Frontiers In Cell And Developmental Biology
Panneman, Daan M DM; Hitti-Malin, Rebekkah J RJ; Holtes, Lara K LK; de Bruijn, Suzanne E SE; Reurink, Janine J; Boonen, Erica G M EGM; Khan, Muhammad Imran MI; Ali, Manir M; Andréasson, Sten S; De Baere, Elfride E; Banfi, Sandro S; Bauwens, Miriam M; Ben-Yosef, Tamar T; Bocquet, Béatrice B; De Bruyne, Marieke M; de la Cerda, Berta B; Coppieters, Frauke F; Farinelli, Pietro P; Guignard, Thomas T; Inglehearn, Chris F CF; Karali, Marianthi M; Kjellström, Ulrika U; Koenekoop, Robert R; de Koning, Bart B; Leroy, Bart P BP; McKibbin, Martin M; Meunier, Isabelle I; Nikopoulos, Konstantinos K; Nishiguchi, Koji M KM; Poulter, James A JA; Rivolta, Carlo C; Rodríguez de la Rúa, Enrique E; Saunders, Patrick P; Simonelli, Francesca F; Tatour, Yasmin Y; Testa, Francesco F; Thiadens, Alberta A H J AAHJ; Toomes, Carmel C; Tracewska, Anna M AM; Tran, Hoai Viet HV; Ushida, Hiroaki H; Vaclavik, Veronika V; Verhoeven, Virginie J M VJM; van de Vorst, Maartje M; Gilissen, Christian C; Hoischen, Alexander A; Cremers, Frans P M FPM; Roosing, Susanne S
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.
Npj Genomic Medicine
van Eyk, C L CL; Webber, D L DL; Minoche, A E AE; Pérez-Jurado, L A LA; Corbett, M A MA; Gardner, A E AE; Berry, J G JG; Harper, K K; MacLennan, A H AH; Gecz, J J
Publication Date: 2021-09-16
Variant appearance in text: ABCA4: 5282C>G; P1761R