Publications:

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: 1408_1410del; Thr470del

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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

Publication Date: 2022-11-29

Variant appearance in text: BRAF: T470del

PubMed Link: 36448195

Variant Present in the following documents:

• Main text
• AJMG-190-501.pdf

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Bone resorption in syndromes of the Ras/MAPK pathway.

Clinical Genetics

Stevenson, D A DA; Schwarz, E L EL; Carey, J C JC; Viskochil, D H DH; Hanson, H H; Bauer, S S; Weng, H-Y Cindy HY; Greene, T T; Reinker, K K; Swensen, J J; Chan, R J RJ; Yang, F-C FC; Senbanjo, L L; Yang, Z Z; Mao, R R; Pasquali, M M

Publication Date: 2011-12

Variant appearance in text: BRAF: T470del

PubMed Link: 21204800

Variant Present in the following documents:

• Main text

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