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
Publication Date: 2023
Variant appearance in text: CNGB1: 2544dup; Leu849Alafs*3
CNGB1-related rod-cone dystrophy: A mutation review and update.
Human Mutation
Nassisi, Marco M; Smirnov, Vasily M VM; Solis Hernandez, Cyntia C; Mohand-Saïd, Saddek S; Condroyer, Christel C; Antonio, Aline A; Kühlewein, Laura L; Kempf, Melanie M; Kohl, Susanne S; Wissinger, Bernd B; Nasser, Fadi F; Ragi, Sara D SD; Wang, Nan-Kai NK; Sparrow, Janet R JR; Greenstein, Vivienne C VC; Michalakis, Stylianos S; Mahroo, Omar A OA; Ba-Abbad, Rola R; Michaelides, Michel M; Webster, Andrew R AR; Degli Esposti, Simona S; Saffren, Brooke B; Capasso, Jenina J; Levin, Alex A; Hauswirth, William W WW; Dhaenens, Claire-Marie CM; Defoort-Dhellemmes, Sabine S; Tsang, Stephen H SH; Zrenner, Eberhart E; Sahel, Jose-Alain JA; Petersen-Jones, Simon M SM; Zeitz, Christina C; Audo, Isabelle I
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
The Journal Of Clinical Investigation
Petersen-Jones, Simon M SM; Occelli, Laurence M LM; Winkler, Paige A PA; Lee, Winston W; Sparrow, Janet R JR; Tsukikawa, Mai M; Boye, Sanford L SL; Chiodo, Vince V; Capasso, Jenina E JE; Becirovic, Elvir E; Schön, Christian C; Seeliger, Mathias W MW; Levin, Alex V AV; Michalakis, Stylianos S; Hauswirth, William W WW; Tsang, Stephen H SH
Publication Date: 2018-01-02
Variant appearance in text: CNGB1: 2544dupG; Leu849Alafs*3
Molecular findings from 537 individuals with inherited retinal disease.
Journal Of Medical Genetics
Ellingford, Jamie M JM; Barton, Stephanie S; Bhaskar, Sanjeev S; O'Sullivan, James J; Williams, Simon G SG; Lamb, Janine A JA; Panda, Binay B; Sergouniotis, Panagiotis I PI; Gillespie, Rachel L RL; Daiger, Stephen P SP; Hall, Georgina G; Gale, Theodora T; Lloyd, I Christopher IC; Bishop, Paul N PN; Ramsden, Simon C SC; Black, Graeme C M GCM
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Consugar, Mark B MB; Navarro-Gomez, Daniel D; Place, Emily M EM; Bujakowska, Kinga M KM; Sousa, Maria E ME; Fonseca-Kelly, Zoë D ZD; Taub, Daniel G DG; Janessian, Maria M; Wang, Dan Yi DY; Au, Elizabeth D ED; Sims, Katherine B KB; Sweetser, David A DA; Fulton, Anne B AB; Liu, Qin Q; Wiggs, Janey L JL; Gai, Xiaowu X; Pierce, Eric A EA
Publication Date: 2015-04
Variant appearance in text: CNGB1: 2544_2545insG; Leu849Alafs