Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: USH2A: 14977_14978del; Phe4993fs
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Publication Date: 2022-12-02
Variant appearance in text: USH2A: 14977_14978del; Phe4993Profs*7
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Investigative Ophthalmology & Visual Science
Colombo, Leonardo L; Maltese, Paolo E PE; Castori, Marco M; El Shamieh, Said S; Zeitz, Christina C; Audo, Isabelle I; Zulian, Alessandra A; Marinelli, Carla C; Benedetti, Sabrina S; Costantini, Alisia A; Bressan, Simone S; Percio, Marcella M; Ferri, Paolo P; Abeshi, Andi A; Bertelli, Matteo M; Rossetti, Luca L
Publication Date: 2021-02-01
Variant appearance in text: USH2A: 14977_14978del; Phe4993Profs*7
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
International Journal Of Molecular Sciences
Karali, Marianthi M; Testa, Francesco F; Brunetti-Pierri, Raffaella R; Di Iorio, Valentina V; Pizzo, Mariateresa M; Melillo, Paolo P; Barillari, Maria Rosaria MR; Torella, Annalaura A; Musacchia, Francesco F; D'Angelo, Luigi L; Banfi, Sandro S; Simonelli, Francesca F
Publication Date: 2019-12-20
Variant appearance in text: USH2A: 14977_14978del; Phe4993Profs
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.
Scientific Reports
Eandi, Chiara M CM; Dallorto, Laura L; Spinetta, Roberta R; Micieli, Maria Pia MP; Vanzetti, Mario M; Mariottini, Alessandro A; Passerini, Ilaria I; Torricelli, Francesca F; Alovisi, Camilla C; Marchese, Cristiana C