The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Pnas Nexus
Peter, Virginie G VG; Kaminska, Karolina K; Santos, Cristina C; Quinodoz, Mathieu M; Cancellieri, Francesca F; Cisarova, Katarina K; Pescini Gobert, Rosanna R; Rodrigues, Raquel R; Custódio, Sónia S; Paris, Liliana P LP; Sousa, Ana Berta AB; Coutinho Santos, Luisa L; Rivolta, Carlo C
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Nature Genetics
Dawes, Ruebena R; Bournazos, Adam M AM; Bryen, Samantha J SJ; Bommireddipalli, Shobhana S; Marchant, Rhett G RG; Joshi, Himanshu H; Cooper, Sandra T ST
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.
Plos Genetics
Moye, Abigail R AR; Bedoni, Nicola N; Cunningham, Jessica G JG; Sanzhaeva, Urikhan U; Tucker, Eric S ES; Mathers, Peter P; Peter, Virginie G VG; Quinodoz, Mathieu M; Paris, Liliana P LP; Coutinho-Santos, Luísa L; Camacho, Pedro P; Purcell, Madeleine G MG; Winkelmann, Abbie C AC; Foster, James A JA; Pugacheva, Elena N EN; Rivolta, Carlo C; Ramamurthy, Visvanathan V