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: 1502A>G; Glu501Gly

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: E501G

PubMed Link: 36448195

Variant Present in the following documents:

• AJMG-190-501.pdf

View BVdb publication page

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Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.

Frontiers In Genetics

Sun, Ling L; Xie, Yu-Mei YM; Wang, Shu-Shui SS; Zhang, Zhi-Wei ZW

Publication Date: 2022

Variant appearance in text: BRAF: 1502A>G

PubMed Link: 35770001

Variant Present in the following documents:

• Main text
• fgene-13-915129.pdf

View BVdb publication page

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Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Eclinicalmedicine

Chan, Wenxiu W; Yang, Shiwei S; Wang, Jian J; Tong, Shilu S; Lin, Minyin M; Lu, Pengtao P; Yao, Ruen R; Wu, Lanping L; Chen, Lijun L; Guo, Ying Y; Shen, Jie J; Liu, Tingliang T; Li, Fen F; Chen, Huiwen H; Zhang, Hao H; Wang, Shushui S; Fu, Lijun L

Publication Date: 2022-07

Variant appearance in text: BRAF: 1502A>G; Glu501Gly

PubMed Link: 35747179

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Molecular Medicine (Cambridge, Mass.)

Seo, Go Hun GH; Lee, Hane H; Lee, Jungsul J; Han, Heonjong H; Cho, You Kyung YK; Kim, Minji M; Choi, Yunha Y; Choi, Jeongmin J; Choi, In Hee IH; Rhie, Seonkyeong S; Chae, Kyu Young KY; Kim, Yoo-Mi YM; Cheon, Chong Kun CK; Kim, Su Jin SJ; Lee, Jieun J; Kang, Eungu E; Byeon, Jung Hye JH; Yu, Hee Joon HJ; Shin, Young-Lim YL; Oh, Arum A; Kim, Woo Jin WJ; Yum, Mi-Sun MS; Lee, Beom Hee BH; Eun, Baik-Lin BL

Publication Date: 2022-03-26

Variant appearance in text: BRAF: 1502A>G; Glu501Gly

PubMed Link: 35346031

Variant Present in the following documents:

• 10020_2022_464_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Cardiofaciocutaneous syndrome - a longitudinal study of a case over 33 years: case report and review of the literature.

Romanian Journal Of Morphology And Embryology = Revue Roumaine De Morphologie Et Embryologie

Jurcă, Maria Claudia MC; Iuhas, Oana Alexandra OA; Puiu, Maria M; Chiriţă-Emandi, Adela A; Andreescu, Nicoleta Ioana NI; Petcheşi, Codruţa Diana CD; Jurcă, Alexandru Daniel AD; Magyar, Ioan I; Jurcă, Sânziana Iulia SI; Kozma, Kinga K; Severin, Emilia Maria EM; Bembea, Marius M

Publication Date: 2021

Variant appearance in text: BRAF: 1502A>G; rs180177039

PubMed Link: 35024745

Variant Present in the following documents:

• Main text
• RJME-62-2-563.pdf

View BVdb publication page

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Automated Facial Recognition for Noonan Syndrome Using Novel Deep Convolutional Neural Network With Additive Angular Margin Loss.

Frontiers In Genetics

Yang, Hang H; Hu, Xin-Rong XR; Sun, Ling L; Hong, Dian D; Zheng, Ying-Yi YY; Xin, Ying Y; Liu, Hui H; Lin, Min-Yin MY; Wen, Long L; Liang, Dong-Po DP; Wang, Shu-Shui SS

Publication Date: 2021

Variant appearance in text: BRAF: 1502A>G; E501G

PubMed Link: 34163525

Variant Present in the following documents:

• Main text
• fgene-12-669841.pdf

View BVdb publication page

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Genomic Mutation Profile of Primary Gastrointestinal Diffuse Large B-Cell Lymphoma.

Frontiers In Oncology

Li, Peifeng P; Chai, Jia J; Chen, Zi Z; Liu, Yang Y; Wei, Jie J; Liu, Yixiong Y; Zhao, Danhui D; Ma, Jing J; Wang, Kaijing K; Li, Xia X; Shao, Yang Y; Gong, Li L; Zhang, Wei W; Guo, Shuangping S; Yan, Qingguo Q; Li, Mingyang M; Fan, Linni L; Wang, Zhe Z

Publication Date: 2021

Variant appearance in text: BRAF: E501G

PubMed Link: 33747936

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 2

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: E501G

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: 1502A>G; Glu501Gly

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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: 1502A>G; Glu501Gly

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.

Orphanet Journal Of Rare Diseases

Chen, Hao H; Li, Xin X; Liu, Xiaoliang X; Wang, Jian J; Zhang, Zhen Z; Wu, Jinjin J; Huang, Meirong M; Guo, Ying Y; Li, Fen F; Wang, Xiumin X; Fu, Lijun L

Publication Date: 2019-02-07

Variant appearance in text: BRAF: 1502A>G; E501G

PubMed Link: 30732632

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1010.pdf

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: BRAF: E501G

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM6_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: 1502A>G; Glu501Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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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: E501G

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: rs180177039

PubMed Link: 27478437

Variant Present in the following documents:

• Main text
• ABI2016-2632917.pdf

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: E501G

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: E501G

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: E501G

PubMed Link: 26150740

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mitogen-Inducible Gene-6 Mediates Feedback Inhibition from Mutated BRAF towards the Epidermal Growth Factor Receptor and Thereby Limits Malignant Transformation.

Plos One

Milewska, Malgorzata M; Romano, David D; Herrero, Ana A; Guerriero, Maria Luisa ML; Birtwistle, Marc M; Quehenberger, Franz F; Hatzl, Stefan S; Kholodenko, Boris N BN; Segatto, Oreste O; Kolch, Walter W; Zebisch, Armin A

Publication Date: 2015

Variant appearance in text: BRAF: E501G

PubMed Link: 26065894

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.

European Journal Of Human Genetics : Ejhg

Justino, Ana A; Dias, Patrícia P; João Pina, Maria M; Sousa, Sónia S; Cirnes, Luís L; Berta Sousa, Ana A; Carlos Machado, José J; Costa, José Luis JL

Publication Date: 2015-03

Variant appearance in text: BRAF: 1502A>G; Glu501Gly

PubMed Link: 24896146

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: E501G

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s14.xlsx, sheet 1
• MSB-10-5-727-s13.xls, sheet 1

View BVdb publication page

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Ablation of BRaf impairs neuronal differentiation in the postnatal hippocampus and cerebellum.

Plos One

Pfeiffer, Verena V; Götz, Rudolf R; Xiang, Chaomei C; Camarero, Guadelupe G; Braun, Attila A; Zhang, Yina Y; Blum, Robert R; Heinsen, Helmut H; Nieswandt, Bernhard B; Rapp, Ulf R UR

Publication Date: 2013

Variant appearance in text: BRAF: E501G

PubMed Link: 23505473

Variant Present in the following documents:

• Main text
• pone.0058259.pdf

View BVdb publication page

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A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

American Journal Of Medical Genetics. Part A

Gripp, Karen W KW; Bifeld, Eugenia E; Stabley, Deborah L DL; Hopkins, Elizabeth E; Meien, Stefanie S; Vinette, Kathy K; Sol-Church, Katia K; Rosenberger, Georg G

Publication Date: 2012-09

Variant appearance in text: BRAF: E501G

PubMed Link: 22821884

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.

American Journal Of Medical Genetics. Part A

Pierpont, Elizabeth I EI; Pierpont, Mary Ella ME; Mendelsohn, Nancy J NJ; Roberts, Amy E AE; Tworog-Dube, Erica E; Rauen, Katherine A KA; Seidenberg, Mark S MS

Publication Date: 2010-03

Variant appearance in text: BRAF: E501G

PubMed Link: 20186801

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Journal Of Medical Genetics

Nava, Caroline C; Hanna, Nadine N; Michot, Caroline C; Pereira, Sabrina S; Pouvreau, Nathalie N; Niihori, Tetsuya T; Aoki, Yoko Y; Matsubara, Yoichi Y; Arveiler, Benoit B; Lacombe, Didier D; Pasmant, Eric E; Parfait, Béatrice B; Baumann, Clarisse C; Héron, Delphine D; Sigaudy, Sabine S; Toutain, Annick A; Rio, Marlène M; Goldenberg, Alice A; Leheup, Bruno B; Verloes, Alain A; Cavé, Hélène H

Publication Date: 2007-12

Variant appearance in text: BRAF: E501G

PubMed Link: 17704260

Variant Present in the following documents:

• Main text

View BVdb publication page

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