Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08
Variant appearance in text: ERMAP: 1310C>T; Ser437Phe; rs368560991
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: ERMAP: S437F; rs368560991
RBCeq: A robust and scalable algorithm for accurate genetic blood typing.
Ebiomedicine
Jadhao, Sudhir S; Davison, Candice L CL; Roulis, Eileen V EV; Schoeman, Elizna M EM; Divate, Mayur M; Haring, Mitchel M; Williams, Chris C; Shankar, Arvind Jaya AJ; Lee, Simon S; Pecheniuk, Natalie M NM; Irving, David O DO; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH
Publication Date: 2022-01-13
Variant appearance in text: ERMAP: S437F; rs368560991
RBCeq: A robust and scalable algorithm for accurate genetic blood typing.
Ebiomedicine
Jadhao, Sudhir S; Davison, Candice L CL; Roulis, Eileen V EV; Schoeman, Elizna M EM; Divate, Mayur M; Haring, Mitchel M; Williams, Chris C; Shankar, Arvind Jaya AJ; Lee, Simon S; Pecheniuk, Natalie M NM; Irving, David O DO; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH
Publication Date: 2022-02
Variant appearance in text: ERMAP: S437F; rs368560991