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
Publication Date: 2023-02-23
Variant appearance in text: NF1: 999C>G; Tyr333Ter
Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth.
Jama
Mody, Rajen J RJ; Wu, Yi-Mi YM; Lonigro, Robert J RJ; Cao, Xuhong X; Roychowdhury, Sameek S; Vats, Pankaj P; Frank, Kevin M KM; Prensner, John R JR; Asangani, Irfan I; Palanisamy, Nallasivam N; Dillman, Jonathan R JR; Rabah, Raja M RM; Kunju, Laxmi Priya LP; Everett, Jessica J; Raymond, Victoria M VM; Ning, Yu Y; Su, Fengyun F; Wang, Rui R; Stoffel, Elena M EM; Innis, Jeffrey W JW; Roberts, J Scott JS; Robertson, Patricia L PL; Yanik, Gregory G; Chamdin, Aghiad A; Connelly, James A JA; Choi, Sung S; Harris, Andrew C AC; Kitko, Carrie C; Rao, Rama Jasty RJ; Levine, John E JE; Castle, Valerie P VP; Hutchinson, Raymond J RJ; Talpaz, Moshe M; Robinson, Dan R DR; Chinnaiyan, Arul M AM