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: 735A>T; Leu245Phe
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Kenney-Jung, Daniel L DL; Rogers, Dante J DJ; Kroening, Samuel J SJ; Zatkalik, Abigail L AL; Whitmarsh, Ashley E AE; Roberts, Amy E AE; Zenker, Martin M; Gambardella, Maria Luigia ML; Contaldo, Ilaria I; Leoni, Chiara C; Onesimo, Roberta R; Zampino, Giuseppe G; Tartaglia, Marco M; Battaglia, Domenica I DI; Pierpont, Elizabeth I EI
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
Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.
Plastic And Reconstructive Surgery. Global Open
Davis, Amani A AA; Haredy, Mostafa M MM; Huey, Jennifer J; Scanga, Hannah H; Zuccoli, Giulio G; Pollack, Ian F IF; Tamber, Mandeep S MS; Goldstein, Jesse J; Madan-Khetarpal, Suneeta S; Nischal, Ken K KK
Publication Date: 2019-12
Variant appearance in text: BRAF: 735A>T; Leu245Phe
RASopathy in Patients With Isolated Sagittal Synostosis.
Global Pediatric Health
Davis, Amani Ali AA; Zuccoli, Giulio G; Haredy, Mostafa M MM; Losee, Joseph J; Pollack, Ian F IF; Madan-Khetarpal, Suneeta S; Goldstein, Jesse A JA; Nischal, Ken K KK
Publication Date: 2019
Variant appearance in text: BRAF: 735A>T; Leu245Phe
Synergy from gene expression and network mining (SynGeNet) method predicts synergistic drug combinations for diverse melanoma genomic subtypes.
Npj Systems Biology And Applications
Regan-Fendt, Kelly E KE; Xu, Jielin J; DiVincenzo, Mallory M; Duggan, Megan C MC; Shakya, Reena R; Na, Ryejung R; Carson, William E WE; Payne, Philip R O PRO; Li, Fuhai F
RASopathies: Clinical Diagnosis in the First Year of Life.
Molecular Syndromology
Digilio, M C MC; Lepri, F F; Baban, A A; Dentici, M L ML; Versacci, P P; Capolino, R R; Ferese, R R; De Luca, A A; Tartaglia, M M; Marino, B B; Dallapiccola, B B
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
American Journal Of Medical Genetics. Part A
Pierpont, Elizabeth I EI; Pierpont, Mary Ella ME; Mendelsohn, Nancy J NJ; Roberts, Amy E AE; Tworog-Dube, Erica E; Rauen, Katherine A KA; Seidenberg, Mark S MS
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: 735A>T; Leu245Phe