Publications:

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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: 1449A>C; Lys483Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: K483N

PubMed Link: 36448195

Variant Present in the following documents:

• AJMG-190-501.pdf

View BVdb publication page

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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

Publication Date: 2021-08-26

Variant appearance in text: BRAF: Lys483Asn

PubMed Link: 34573299

Variant Present in the following documents:

• Main text
• genes-12-01316.pdf

View BVdb publication page

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Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.

Orphanet Journal Of Rare Diseases

Leoni, Chiara C; Romeo, Domenico Marco DM; Pelliccioni, Michele M; Di Già, Mariangela M; Onesimo, Roberta R; Giorgio, Valentina V; Flex, Elisabetta E; Tedesco, Marta M; Tartaglia, Marco M; Rigante, Donato D; Valassina, Antonio A; Zampino, Giuseppe G

Publication Date: 2021-01-22

Variant appearance in text: BRAF: Lys483Asn

PubMed Link: 33482860

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1674.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: BRAF: K483N

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Ultra-Deep Massive Parallel Sequencing of Plasma Cell-Free DNA Enables Large-Scale Profiling of Driver Mutations in Vietnamese Patients With Advanced Non-Small Cell Lung Cancer.

Frontiers In Oncology

Tran, Le Son LS; Nguyen, Quynh-Tho Thi QT; Nguyen, Chu Van CV; Tran, Vu-Uyen VU; Nguyen, Thai-Hoa Thi TT; Le, Ha Thu HT; Nguyen, Mai-Lan Thi MT; Le, Vu Thuong VT; Pham, Lam-Son LS; Vo, Binh Thanh BT; Dang, Anh-Thu Huynh AH; Nguyen, Luan Thanh LT; Nguyen, Thien-Chi Van TV; Pham, Hong-Anh Thi HT; Tran, Thanh-Truong TT; Nguyen, Long Hung LH; Nguyen, Thanh-Thanh Thi TT; Nguyen, Kim-Huong Thi KT; Vu, Yen-Vi YV; Nguyen, Nguyen Huu NH; Bui, Vinh-Quang VQ; Bui, Hai-Ha HH; Do, Thanh-Thuy Thi TT; Lam, Nien Vinh NV; Truong Dinh, Kiet K; Phan, Minh-Duy MD; Nguyen, Hoai-Nghia HN; Giang, Hoa H

Publication Date: 2020

Variant appearance in text: BRAF: K483N

PubMed Link: 32850431

Variant Present in the following documents:

• Table_2.xlsx, sheet 2

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: BRAF: K483N

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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