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: 1403T>C; Phe468Ser

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: F468S

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: 1403T>C; Phe468Ser

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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Clinical associations and genetic interactions of oncogenic BRAF alleles.

Peerj

Wagner, Sebastian A SA

Publication Date: 2022

Variant appearance in text: BRAF: F468S

PubMed Link: 36275468

Variant Present in the following documents:

• peerj-10-14126.pdf

View BVdb publication page

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Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.

Frontiers In Endocrinology

Bando, Hironori H; Urai, Shin S; Kanie, Keitaro K; Sasaki, Yuriko Y; Yamamoto, Masaaki M; Fukuoka, Hidenori H; Iguchi, Genzo G; Camper, Sally A SA

Publication Date: 2022

Variant appearance in text: BRAF: F468S

PubMed Link: 36237189

Variant Present in the following documents:

• Main text
• fendo-13-1008306.pdf

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: 1403T>C; F468S

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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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: BRAF: F468S

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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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: 1403T>C; Phe468Ser

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: 1403T>C; Phe468Ser

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: BRAF: F468S

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Defining RASopathy.

Disease Models & Mechanisms

Rauen, Katherine A KA

Publication Date: 2022-02-01

Variant appearance in text: BRAF: F468S

PubMed Link: 35103797

Variant Present in the following documents:

• Main text

View BVdb publication page

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Defining RASopathy.

Disease Models & Mechanisms

Rauen, Katherine A KA

Publication Date: 2022-02-01

Variant appearance in text: BRAF: F468S

PubMed Link: 35103797

Variant Present in the following documents:

• Main text

View BVdb publication page

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Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.

Nature Communications

Gualtieri, Angelica A; Kyprianou, Nikolina N; Gregory, Louise C LC; Vignola, Maria Lillina ML; Nicholson, James G JG; Tan, Rachael R; Inoue, Shin-Ichi SI; Scagliotti, Valeria V; Casado, Pedro P; Blackburn, James J; Abollo-Jimenez, Fernando F; Marinelli, Eugenia E; Besser, Rachael E J REJ; Högler, Wolfgang W; Karen Temple, I I; Davies, Justin H JH; Gagunashvili, Andrey A; Robinson, Iain C A F ICAF; Camper, Sally A SA; Davis, Shannon W SW; Cutillas, Pedro R PR; Gevers, Evelien F EF; Aoki, Yoko Y; Dattani, Mehul T MT; Gaston-Massuet, Carles C

Publication Date: 2021-04-01

Variant appearance in text: BRAF: 1403T>C; F468S

PubMed Link: 33795686

Variant Present in the following documents:

• Main text
• 41467_2021_21712_MOESM1_ESM.pdf
• 41467_2021_Article_21712.pdf

View BVdb publication page

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Assessment of RAS Dependency for BRAF Alterations Using Cancer Genomic Databases.

Jama Network Open

Zhao, Yiqing Y; Yu, Hanzhong H; Ida, Cris M CM; Halling, Kevin C KC; Kipp, Benjamin R BR; Geiersbach, Katherine K; Rumilla, Kandelaria M KM; Gupta, Sounak S; Lin, Ming-Tseh MT; Zheng, Gang G

Publication Date: 2021-01-04

Variant appearance in text: BRAF: F468S

PubMed Link: 33507258

Variant Present in the following documents:

• jamanetwopen-e2035479-s001.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: BRAF: 1403T>C; F468S

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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: F468S

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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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: BRAF: 1403T>C; Phe468Ser

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

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Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Bmc Cancer

Zhang, Wei W; Yang, Li L; Guan, Yu' Qi YQ; Shen, Ke' Feng KF; Zhang, Mei' Lan ML; Cai, Hao' Dong HD; Wang, Jia' Chen JC; Wang, Ying Y; Huang, Liang L; Cao, Yang Y; Wang, Na N; Tan, Xiao' Hong XH; Young, Ken He KH; Xiao, Min M; Zhou, Jian' Feng JF

Publication Date: 2020-07-31

Variant appearance in text: BRAF: 1403T>C; Phe468Ser

PubMed Link: 32736575

Variant Present in the following documents:

• 12885_2020_7198_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular Landscape of BRAF-Mutant NSCLC Reveals an Association Between Clonality and Driver Mutations and Identifies Targetable Non-V600 Driver Mutations.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Negrao, Marcelo V MV; Raymond, Victoria M VM; Lanman, Richard B RB; Robichaux, Jacqulyne P JP; He, Junqin J; Nilsson, Monique B MB; Ng, Patrick K S PKS; Amador, Bianca E BE; Roarty, Emily B EB; Nagy, Rebecca J RJ; Banks, Kimberly C KC; Zhu, Viola W VW; Ng, Chun C; Chae, Young Kwang YK; Clarke, Jeffrey M JM; Crawford, Jeffrey A JA; Meric-Bernstam, Funda F; Ignatius Ou, Sai-Hong SH; Gandara, David R DR; Heymach, John V JV; Bivona, Trever G TG; McCoach, Caroline E CE

Publication Date: 2020-10

Variant appearance in text: BRAF: F468S

PubMed Link: 32540409

Variant Present in the following documents:

• Main text

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: 1403T>C; Phe468Ser

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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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: BRAF: 1403T>C; Phe468Ser

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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KRAS, NRAS, and BRAF mutations are highly enriched in trisomy 12 chronic lymphocytic leukemia and are associated with shorter treatment-free survival.

Leukemia

Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Benedetti, Dania D; Bittolo, Tamara T; Rossi, Francesca Maria FM; Dal Bo, Michele M; Rabe, Kari G KG; Pozzato, Gabriele G; Zaja, Francesco F; Chiarenza, Annalisa A; Di Raimondo, Francesco F; Braggio, Esteban E; Parikh, Sameer A SA; Kay, Neil E NE; Shanafelt, Tait D TD; Del Poeta, Giovanni G; Gattei, Valter V; Zucchetto, Antonella A

Publication Date: 2019-08

Variant appearance in text: BRAF: 1403T>C; F468S

PubMed Link: 30872781

Variant Present in the following documents:

• 41375_2019_444_MOESM1_ESM.pdf

View BVdb publication page

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Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications.

Bmc Neurology

Lin, Chien-Heng CH; Lin, Wei-De WD; Chou, I-Ching IC; Lee, Inn-Chi IC; Fan, Hueng-Chuen HC; Hong, Syuan-Yu SY

Publication Date: 2018-09-20

Variant appearance in text: BRAF: F468S

PubMed Link: 30236064

Variant Present in the following documents:

• Main text
• 12883_2018_Article_1157.pdf

View BVdb publication page

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Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd

Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D

Publication Date: 2018-09

Variant appearance in text: BRAF: F468S

PubMed Link: 29936259

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

View BVdb publication page

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: BRAF: F468S

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 1
• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs397507473

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.

Bmc Medical Genomics

Xu, Shanshan S; Fan, Yanjie Y; Sun, Yu Y; Wang, Lili L; Gu, Xuefan X; Yu, Yongguo Y

Publication Date: 2017-10-30

Variant appearance in text: BRAF: F468S; rs397507473

PubMed Link: 29084544

Variant Present in the following documents:

• Main text
• 12920_2017_Article_298.pdf

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: rs397507473

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRAF: 1403T>C; Phe468Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: BRAF: F468S; rs397507473

PubMed Link: 28471432

Variant Present in the following documents:

• Main text
• gim201750a.pdf
• gim201750x2.xlsx, sheet 3

View BVdb publication page

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BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.

Genes & Development

Lim, Chae-Seok CS; Kang, Xi X; Mirabella, Vincent V; Zhang, Huaye H; Bu, Qian Q; Araki, Yoichi Y; Hoang, Elizabeth T ET; Wang, Shiqiang S; Shen, Ying Y; Choi, Sukwoo S; Kaang, Bong-Kiun BK; Chang, Qiang Q; Pang, Zhiping P ZP; Huganir, Richard L RL; Zhu, J Julius JJ

Publication Date: 2017-03-15

Variant appearance in text: BRAF: F468S

PubMed Link: 28404629

Variant Present in the following documents:

• supp_31.6.537_Supplemental_Materials.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: BRAF: F468S; rs397507473

PubMed Link: 27478437

Variant Present in the following documents:

• Main text
• ABI2016-2632917.pdf

View BVdb publication page

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RASopathy Gene Mutations in Melanoma.

The Journal Of Investigative Dermatology

Halaban, Ruth R; Krauthammer, Michael M

Publication Date: 2016-09

Variant appearance in text: BRAF: F468S

PubMed Link: 27236105

Variant Present in the following documents:

• Main text

View BVdb publication page

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The yin-yang of kinase activation and unfolding explains the peculiarity of Val600 in the activation segment of BRAF.

Elife

Kiel, Christina C; Benisty, Hannah H; Lloréns-Rico, Veronica V; Serrano, Luis L

Publication Date: 2016-01-08

Variant appearance in text: BRAF: F468S

PubMed Link: 26744778

Variant Present in the following documents:

• elife-12814-supp1.xlsx, sheet 2

View BVdb publication page

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Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell

Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R

Publication Date: 2015-09-24

Variant appearance in text: BRAF: F468S

PubMed Link: 26388441

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BRAF: F468S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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RASopathies: unraveling mechanisms with animal models.

Disease Models & Mechanisms

Jindal, Granton A GA; Goyal, Yogesh Y; Burdine, Rebecca D RD; Rauen, Katherine A KA; Shvartsman, Stanislav Y SY

Publication Date: 2015-08-01

Variant appearance in text: BRAF: F468S

PubMed Link: 26203125

Variant Present in the following documents:

• supp_8.8.769_DMM020339supp.pdf

View BVdb publication page

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BRAF gene: From human cancers to developmental syndromes.

Saudi Journal Of Biological Sciences

Hussain, Muhammad Ramzan Manwar MR; Baig, Mukhtiar M; Mohamoud, Hussein Sheik Ali HS; Ulhaq, Zaheer Z; Hoessli, Daniel C DC; Khogeer, Ghaidaa Siraj GS; Al-Sayed, Ranem Radwan RR; Al-Aama, Jumana Yousuf JY

Publication Date: 2015-07

Variant appearance in text: BRAF: F468S

PubMed Link: 26150740

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: BRAF: F468S

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

View BVdb publication page

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The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway.

Genes & Development

Andreadi, Catherine C; Cheung, Lai-Kay LK; Giblett, Susan S; Patel, Bipin B; Jin, Hong H; Mercer, Kathryn K; Kamata, Tamihiro T; Lee, Pearl P; Williams, Alexander A; McMahon, Martin M; Marais, Richard R; Pritchard, Catrin C

Publication Date: 2012-09-01

Variant appearance in text: BRAF: F468S

PubMed Link: 22892241

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: F468S

PubMed Link: 21204800

Variant Present in the following documents:

• Main text

View BVdb publication page

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

Nature Genetics

Girirajan, Santhosh S; Rosenfeld, Jill A JA; Cooper, Gregory M GM; Antonacci, Francesca F; Siswara, Priscillia P; Itsara, Andy A; Vives, Laura L; Walsh, Tom T; McCarthy, Shane E SE; Baker, Carl C; Mefford, Heather C HC; Kidd, Jeffrey M JM; Browning, Sharon R SR; Browning, Brian L BL; Dickel, Diane E DE; Levy, Deborah L DL; Ballif, Blake C BC; Platky, Kathryn K; Farber, Darren M DM; Gowans, Gordon C GC; Wetherbee, Jessica J JJ; Asamoah, Alexander A; Weaver, David D DD; Mark, Paul R PR; Dickerson, Jennifer J; Garg, Bhuwan P BP; Ellingwood, Sara A SA; Smith, Rosemarie R; Banks, Valerie C VC; Smith, Wendy W; McDonald, Marie T MT; Hoo, Joe J JJ; French, Beatrice N BN; Hudson, Cindy C; Johnson, John P JP; Ozmore, Jillian R JR; Moeschler, John B JB; Surti, Urvashi U; Escobar, Luis F LF; El-Khechen, Dima D; Gorski, Jerome L JL; Kussmann, Jennifer J; Salbert, Bonnie B; Lacassie, Yves Y; Biser, Alisha A; McDonald-McGinn, Donna M DM; Zackai, Elaine H EH; Deardorff, Matthew A MA; Shaikh, Tamim H TH; Haan, Eric E; Friend, Kathryn L KL; Fichera, Marco M; Romano, Corrado C; Gécz, Jozef J; DeLisi, Lynn E LE; Sebat, Jonathan J; King, Mary-Claire MC; Shaffer, Lisa G LG; Eichler, Evan E EE

Publication Date: 2010-03

Variant appearance in text: BRAF: F468S

PubMed Link: 20154674

Variant Present in the following documents:

• Main text
• nihms172353.pdf
• NIHMS172353-supplement-1.pdf

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Epigenetic-genetic interactions in the APC/WNT, RAS/RAF, and P53 pathways in colorectal carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Suehiro, Yutaka Y; Wong, Chi Wai CW; Chirieac, Lucian R LR; Kondo, Yutaka Y; Shen, Lanlan L; Webb, C Renee CR; Chan, Yee Wai YW; Chan, Annie S Y AS; Chan, Tsun Leung TL; Wu, Tsung-Teh TT; Rashid, Asif A; Hamanaka, Yuichiro Y; Hinoda, Yuji Y; Shannon, Rhonda L RL; Wang, Xuemei X; Morris, Jeffrey J; Issa, Jean-Pierre J JP; Yuen, Siu Tsan ST; Leung, Suet Yi SY; Hamilton, Stanley R SR

Publication Date: 2008-05-01

Variant appearance in text: BRAF: F468S

PubMed Link: 18451217

Variant Present in the following documents:

• Main text

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