APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
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
NF1 Mutations Are Common in Desmoplastic Melanoma.
The American Journal Of Surgical Pathology
Wiesner, Thomas T; Kiuru, Maija M; Scott, Sasinya N SN; Arcila, Maria M; Halpern, Allan C AC; Hollmann, Travis T; Berger, Michael F MF; Busam, Klaus J KJ
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.
European Journal Of Human Genetics : Ejhg
Thomas, Laura L; Spurlock, Gill G; Eudall, Claire C; Thomas, Nick S NS; Mort, Matthew M; Hamby, Stephen E SE; Chuzhanova, Nadia N; Brems, Hilde H; Legius, Eric E; Cooper, David N DN; Upadhyaya, Meena M