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: 1513C>T; Leu505Phe

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: L505F

PubMed Link: 36448195

Variant Present in the following documents:

• Main text
• AJMG-190-501.pdf

View BVdb publication page

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: BRAF: 1513C>T; Leu505Phe

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: BRAF: 1513C>T; L505F

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.

Hgg Advances

French, Courtney E CE; Dolling, Helen H; Mégy, Karyn K; Sanchis-Juan, Alba A; Kumar, Ajay A; Delon, Isabelle I; Wakeling, Matthew M; Mallin, Lucy L; Agrawal, Shruti S; Austin, Topun T; Walston, Florence F; Park, Soo-Mi SM; Parker, Alasdair A; Piyasena, Chinthika C; Bradbury, Kimberley K; , ; Ellard, Sian S; Rowitch, David H DH; Raymond, F Lucy FL

Publication Date: 2022-07-14

Variant appearance in text: BRAF: 1513C>T; Leu505Phe

PubMed Link: 35586607

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine

Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N

Publication Date: 2022-04-26

Variant appearance in text: BRAF: 1513C>T; Leu505Phe

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 8

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: BRAF: 1513C>T; Leu505Phe

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Identifying Actionable Variants Using Capture-Based Targeted Sequencing in 563 Patients With Non-Small Cell Lung Carcinoma.

Frontiers In Oncology

Jiang, Haiping H; Wang, Yinan Y; Xu, Hanlin H; Lei, Wei W; Yu, Xiaoyun X; Tian, Haiying H; Meng, Cong C; Wang, Xueying X; Zhao, Zicheng Z; Jin, Xiangfeng X

Publication Date: 2021

Variant appearance in text: BRAF: L505F; rs397507477

PubMed Link: 35186718

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Haematologica

Gutierrez-Rodrigues, Fernanda F; Beerman, Isabel I; Groarke, Emma M EM; Patel, Bhavisha A BA; Spitofsky, Nina N; Dillon, Laura W LW; Raffo, Diego Quinones DQ; Hourigan, Christopher S CS; Kajigaya, Sachiko S; Ferrucci, Luigi L; Young, Neal S NS

Publication Date: 2022-08-01

Variant appearance in text: BRAF: 1513C>T

PubMed Link: 34587721

Variant Present in the following documents:

• 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf

View BVdb publication page

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Rare Activating BRAF Alteration Involving the β3-αC Kinase Domain in Ganglioglioma.

Journal Of Neuropathology And Experimental Neurology

Lin, Chun-Chieh CC; Lefferts, Joel A JA; Chan, Amy M AM; Zanazzi, George G

Publication Date: 2021-09-27

Variant appearance in text: BRAF: L505F

PubMed Link: 33611593

Variant Present in the following documents:

• Main text

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: L505F

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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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: BRAF: 1513C>T; Leu505Phe

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

View BVdb publication page

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The dynamic switch mechanism that leads to activation of LRRK2 is embedded in the DFGψ motif in the kinase domain.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Schmidt, Sven H SH; Knape, Matthias J MJ; Boassa, Daniela D; Mumdey, Natascha N; Kornev, Alexandr P AP; Ellisman, Mark H MH; Taylor, Susan S SS; Herberg, Friedrich W FW

Publication Date: 2019-07-23

Variant appearance in text: BRAF: L505F

PubMed Link: 31292254

Variant Present in the following documents:

• Main text
• pnas.201900289.pdf

View BVdb publication page

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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.

Intensive Care Medicine

French, Courtney E CE; Delon, Isabelle I; Dolling, Helen H; Sanchis-Juan, Alba A; Shamardina, Olga O; Mégy, Karyn K; Abbs, Stephen S; Austin, Topun T; Bowdin, Sarah S; Branco, Ricardo G RG; Firth, Helen H; , ; , ; Rowitch, David H DH; Raymond, F Lucy FL

Publication Date: 2019-05

Variant appearance in text: BRAF: 1513C>T

PubMed Link: 30847515

Variant Present in the following documents:

• 134_2019_5552_MOESM1_ESM.pdf

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: rs397507477

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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A dynamic hydrophobic core orchestrates allostery in protein kinases.

Science Advances

Kim, Jonggul J; Ahuja, Lalima G LG; Chao, Fa-An FA; Xia, Youlin Y; McClendon, Christopher L CL; Kornev, Alexandr P AP; Taylor, Susan S SS; Veglia, Gianluigi G

Publication Date: 2017-04

Variant appearance in text: BRAF: L505F

PubMed Link: 28435869

Variant Present in the following documents:

• Main text
• 1600663.pdf

View BVdb publication page

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Bioinformatics Approach for Prediction of Functional Coding/Noncoding Simple Polymorphisms (SNPs/Indels) in Human BRAF Gene.

Advances In Bioinformatics

Hassan, Mohamed M MM; Omer, Shaza E SE; Khalf-Allah, Rahma M RM; Mustafa, Razaz Y RY; Ali, Isra S IS; Mohamed, Sofia B SB

Publication Date: 2016

Variant appearance in text: rs397507477

PubMed Link: 27478437

Variant Present in the following documents:

• Main text
• ABI2016-2632917.pdf

View BVdb publication page

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Characterization of novel low passage primary and metastatic colorectal cancer cell lines.

Oncotarget

Boot, Arnoud A; van Eendenburg, Jaap J; Crobach, Stijn S; Ruano, Dina D; Speetjens, Frank F; Calame, Jan J; Oosting, Jan J; Morreau, Hans H; van Wezel, Tom T

Publication Date: 2016-03-22

Variant appearance in text: BRAF: 1513C>T

PubMed Link: 26894854

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic heterogeneity of actionable genes between primary and metastatic tumor in lung adenocarcinoma.

Bmc Cancer

Kim, Eun Young EY; Cho, Eun Na EN; Park, Heae Surng HS; Kim, Arum A; Hong, Ji Young JY; Lim, Seri S; Youn, Jong Pil JP; Hwang, Seung Yong SY; Chang, Yoon Soo YS

Publication Date: 2016-01-18

Variant appearance in text: BRAF: 1513C>T

PubMed Link: 26782967

Variant Present in the following documents:

• 12885_2016_2049_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Allosteric activation of functionally asymmetric RAF kinase dimers.

Cell

Hu, Jiancheng J; Stites, Edward C EC; Yu, Haiyang H; Germino, Elizabeth A EA; Meharena, Hiruy S HS; Stork, Philip J S PJS; Kornev, Alexandr P AP; Taylor, Susan S SS; Shaw, Andrey S AS

Publication Date: 2013-08-29

Variant appearance in text: BRAF: L505F

PubMed Link: 23993095

Variant Present in the following documents:

• Main text

View BVdb publication page

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