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: BRAF: 721A>C; Thr241Pro
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Genes
Battaglia, Domenica I DI; Gambardella, Maria Luigia ML; Veltri, Stefania S; Contaldo, Ilaria I; Chillemi, Giovanni G; Veredice, Chiara C; Quintiliani, Michela M; Leoni, Chiara C; Onesimo, Roberta R; Verdolotti, Tommaso T; Radio, Francesca Clementina FC; Martinelli, Diego D; Trivisano, Marina M; Specchio, Nicola N; Dravet, Charlotte C; Tartaglia, Marco M; Zampino, Giuseppe G
Retrospective Case Series Analysis of RAF Family Alterations in Pancreatic Cancer: Real-World Outcomes From Targeted and Standard Therapies.
Jco Precision Oncology
Hendifar, Andrew A; Blais, Edik M EM; Wolpin, Brian B; Subbiah, Vivek V; Collisson, Eric E; Singh, Isha I; Cannon, Timothy T; Shaw, Kenna K; Petricoin, Emanuel F EF; Klempner, Samuel S; Lyons, Emily E; Wang-Gillam, Andrea A; Pishvaian, Michael J MJ; O'Reilly, Eileen M EM
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
Nature Communications
Gualtieri, Angelica A; Kyprianou, Nikolina N; Gregory, Louise C LC; Vignola, Maria Lillina ML; Nicholson, James G JG; Tan, Rachael R; Inoue, Shin-Ichi SI; Scagliotti, Valeria V; Casado, Pedro P; Blackburn, James J; Abollo-Jimenez, Fernando F; Marinelli, Eugenia E; Besser, Rachael E J REJ; Högler, Wolfgang W; Karen Temple, I I; Davies, Justin H JH; Gagunashvili, Andrey A; Robinson, Iain C A F ICAF; Camper, Sally A SA; Davis, Shannon W SW; Cutillas, Pedro R PR; Gevers, Evelien F EF; Aoki, Yoko Y; Dattani, Mehul T MT; Gaston-Massuet, Carles C
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.
Human Mutation
Grant, Andrew R AR; Cushman, Brandon J BJ; Cavé, Hélène H; Dillon, Mitchell W MW; Gelb, Bruce D BD; Gripp, Karen W KW; Lee, Jennifer A JA; Mason-Suares, Heather H; Rauen, Katherine A KA; Tartaglia, Marco M; Vincent, Lisa M LM; Zenker, Martin M
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
European Journal Of Human Genetics : Ejhg
Kleefstra, Tjitske T; Wortmann, Saskia B SB; Rodenburg, Richard J T RJ; Bongers, Ernie M H F EM; Hadzsiev, Kinga K; Noordam, Cees C; van den Heuvel, Lambert P LP; Nillesen, Willy M WM; Hollody, Katalin K; Gillessen-Kaesbach, Gabrielle G; Lammens, Martin M; Smeitink, Jan A M JA; van der Burgt, Ineke I; Morava, Eva E
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Human Mutation
Sarkozy, Anna A; Carta, Claudio C; Moretti, Sonia S; Zampino, Giuseppe G; Digilio, Maria C MC; Pantaleoni, Francesca F; Scioletti, Anna Paola AP; Esposito, Giorgia G; Cordeddu, Viviana V; Lepri, Francesca F; Petrangeli, Valentina V; Dentici, Maria L ML; Mancini, Grazia M S GM; Selicorni, Angelo A; Rossi, Cesare C; Mazzanti, Laura L; Marino, Bruno B; Ferrero, Giovanni B GB; Silengo, Margherita Cirillo MC; Memo, Luigi L; Stanzial, Franco F; Faravelli, Francesca F; Stuppia, Liborio L; Puxeddu, Efisio E; Gelb, Bruce D BD; Dallapiccola, Bruno B; Tartaglia, Marco M
Publication Date: 2009-04
Variant appearance in text: BRAF: 721A>C; Thr241Pro
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.