Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: PDGFRA: V367M; rs147982027
Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.
International Journal Of Molecular Medicine
Chevrier, Sandy S; Brasselet, Astrid A; Carnet, Marion M; Chevriaux, Angélique A; Gibeaud, Anne A; Jourdain, Marine M; Mananet, Hugo H; Truntzer, Caroline C; Beltjens, Françoise F; Charon-Barra, Céline C; Arnould, Laurent L; Albuisson, Juliette J; Comte, Anthony A; Derangère, Valentin V; Goussot, Vincent V; Boidot, Romain R
Publication Date: 2022-05
Variant appearance in text: PDGFRA: 1099G>A; Val367Met
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: PDGFRA: 1099G>A; V367M; rs147982027
Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer.
Nature Communications
Wagner, Alex H AH; Devarakonda, Siddhartha S; Skidmore, Zachary L ZL; Krysiak, Kilannin K; Ramu, Avinash A; Trani, Lee L; Kunisaki, Jason J; Masood, Ashiq A; Waqar, Saiama N SN; Spies, Nicholas C NC; Morgensztern, Daniel D; Waligorski, Jason J; Ponce, Jennifer J; Fulton, Robert S RS; Maggi, Leonard B LB; Weber, Jason D JD; Watson, Mark A MA; O'Conor, Christopher J CJ; Ritter, Jon H JH; Olsen, Rachelle R RR; Cheng, Haixia H; Mukhopadhyay, Anandaroop A; Can, Ismail I; Cessna, Melissa H MH; Oliver, Trudy G TG; Mardis, Elaine R ER; Wilson, Richard K RK; Griffith, Malachi M; Griffith, Obi L OL; Govindan, Ramaswamy R