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: 1592G>T; Trp531Leu

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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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Genome Medicine

Yuan, Bo B; Schulze, Katharina V KV; Assia Batzir, Nurit N; Sinson, Jefferson J; Dai, Hongzheng H; Zhu, Wenmiao W; Bocanegra, Francia F; Fong, Chin-To CT; Holder, Jimmy J; Nguyen, Joanne J; Schaaf, Christian P CP; Yang, Yaping Y; Bi, Weimin W; Eng, Christine C; Shaw, Chad C; Lupski, James R JR; Liu, Pengfei P

Publication Date: 2022-09-30

Variant appearance in text: BRAF: 1592G>T; W531L

PubMed Link: 36180924

Variant Present in the following documents:

• 13073_2022_1113_MOESM1_ESM.xlsx, sheet 8

View BVdb publication page

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Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

International Journal Of Molecular Medicine

Chevrier, Sandy S; Brasselet, Astrid A; Carnet, Marion M; Chevriaux, Angélique A; Gibeaud, Anne A; Jourdain, Marine M; Mananet, Hugo H; Truntzer, Caroline C; Beltjens, Françoise F; Charon-Barra, Céline C; Arnould, Laurent L; Albuisson, Juliette J; Comte, Anthony A; Derangère, Valentin V; Goussot, Vincent V; Boidot, Romain R

Publication Date: 2022-05

Variant appearance in text: BRAF: 1592G>T; Trp531Leu

PubMed Link: 35244186

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 1

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Analyzing microsatellite instability and gene mutation in circulating cell-free DNA to monitor colorectal cancer progression.

Translational Cancer Research

Fu, Yun Y; Ye, Yuedian Y; Liu, Xiaorong X; Zhu, Guifang G; Xu, Yangwei Y; Sun, Jingbo J; Wu, Hongmei H; Feng, Feiyan F; Wen, Zhihui Z; Jiang, Shanshan S; Li, Yanyan Y; Zhang, Qingling Q

Publication Date: 2021-06

Variant appearance in text: BRAF: W531L

PubMed Link: 35116591

Variant Present in the following documents:

• Main text
• tcr-10-06-2812.pdf

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Sensitivity and Usefulness of VE1 Immunohistochemical Staining in Acral Melanomas with BRAF Mutation.

Annals Of Dermatology

Suh, Min Song MS; Choi, Yoo Duk YD; Lee, Jee-Bum JB; Lee, Seung-Chul SC; Won, Young Ho YH; Yun, Sook Jung SJ

Publication Date: 2018-10

Variant appearance in text: BRAF: W531L

PubMed Link: 33911478

Variant Present in the following documents:

• Main text

View BVdb publication page

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Circulating Cell-Free DNA Combined to Magnetic Resonance Imaging for Early Detection of HCC in Patients with Liver Cirrhosis.

Cancers

Alunni-Fabbroni, Marianna M; Weber, Sabine S; Öcal, Osman O; Seidensticker, Max M; Mayerle, Julia J; Malfertheiner, Peter P; Ricke, Jens J

Publication Date: 2021-01-29

Variant appearance in text: BRAF: 1592G>T; W531L

PubMed Link: 33572923

Variant Present in the following documents:

• Main text
• cancers-13-00521.pdf

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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: W531L

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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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.

Genome Medicine

Dharmadhikari, Avinash V AV; Ghosh, Rajarshi R; Yuan, Bo B; Liu, Pengfei P; Dai, Hongzheng H; Al Masri, Sami S; Scull, Jennifer J; Posey, Jennifer E JE; Jiang, Allen H AH; He, Weimin W; Vetrini, Francesco F; Braxton, Alicia A AA; Ward, Patricia P; Chiang, Theodore T; Qu, Chunjing C; Gu, Shen S; Shaw, Chad A CA; Smith, Janice L JL; Lalani, Seema S; Stankiewicz, Pawel P; Cheung, Sau-Wai SW; Bacino, Carlos A CA; Patel, Ankita A; Breman, Amy M AM; Wang, Xia X; Meng, Linyan L; Xiao, Rui R; Xia, Fan F; Muzny, Donna D; Gibbs, Richard A RA; Beaudet, Arthur L AL; Eng, Christine M CM; Lupski, James R JR; Yang, Yaping Y; Bi, Weimin W

Publication Date: 2019-05-17

Variant appearance in text: BRAF: 1592G>T; W531L

PubMed Link: 31101064

Variant Present in the following documents:

• Main text
• 13073_2019_Article_639.pdf

View BVdb publication page

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Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: BRAF: 1592G>T; Trp531Leu

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 3

View BVdb publication page

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: BRAF: 1592G>T; rs397507478

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

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