Publications:

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Deep phenotyping and whole-exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders.

Molecular Genetics & Genomic Medicine

Wang, Qingqing Q; Tang, Xia X; Yang, Ke K; Huo, Xiaodong X; Zhang, Hui H; Ding, Keyue K; Liao, Shixiu S

Publication Date: 2022-05

Variant appearance in text: BRAF: 1497A>C

PubMed Link: 35266334

Variant Present in the following documents:

• MGG3-10-e1918.pdf

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: 1497A>C; Lys499Asn

PubMed Link: 35244186

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 1
• Supplementary_Data3.xlsx, sheet 1

View BVdb publication page

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Comprehensive genomic analysis of refractory multiple myeloma reveals a complex mutational landscape associated with drug resistance and novel therapeutic vulnerabilities.

Haematologica

Giesen, Nicola N; Paramasivam, Nagarajan N; Toprak, Umut H UH; Huebschmann, Daniel D; Xu, Jing J; Uhrig, Sebastian S; Samur, Mehmet M; Bähr, Stella S; Fröhlich, Martina M; Mughal, Sadaf S SS; Mai, Elias K EK; Jauch, Anna A; Müller-Tidow, Carsten C; Brors, Benedikt B; Munshi, Nikhil N; Goldschmidt, Hartmut H; Weinhold, Niels N; Schlesner, Matthias M; Raab, Marc S MS

Publication Date: 2022-08-01

Variant appearance in text: BRAF: K499N

PubMed Link: 35045690

Variant Present in the following documents:

• 2021_279360_GIESEN_TABS2_SUPPL.xlsx, sheet 1

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: Lys499Asn

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: Lys499Asn

PubMed Link: 33482860

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1674.pdf

View BVdb publication page

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Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine

Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J

Publication Date: 2020-11

Variant appearance in text: BRAF: 1497A>C; K499N; rs397507476

PubMed Link: 33252848

Variant Present in the following documents:

• CTM2-10-e222-s003.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: K499N

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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Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.

Plastic And Reconstructive Surgery. Global Open

Davis, Amani A AA; Haredy, Mostafa M MM; Huey, Jennifer J; Scanga, Hannah H; Zuccoli, Giulio G; Pollack, Ian F IF; Tamber, Mandeep S MS; Goldstein, Jesse J; Madan-Khetarpal, Suneeta S; Nischal, Ken K KK

Publication Date: 2019-12

Variant appearance in text: BRAF: 1497A>C; K499N

PubMed Link: 32537296

Variant Present in the following documents:

• Main text
• gox-7-e2540.pdf

View BVdb publication page

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Landscape of drug-resistance mutations in kinase regulatory hotspots.

Briefings In Bioinformatics

Kim, Pora P; Li, Hanyang H; Wang, Junmei J; Zhao, Zhongming Z

Publication Date: 2021-05-20

Variant appearance in text: BRAF: K499N

PubMed Link: 32510566

Variant Present in the following documents:

• Main text

View BVdb publication page

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RASopathy in Patients With Isolated Sagittal Synostosis.

Global Pediatric Health

Davis, Amani Ali AA; Zuccoli, Giulio G; Haredy, Mostafa M MM; Losee, Joseph J; Pollack, Ian F IF; Madan-Khetarpal, Suneeta S; Goldstein, Jesse A JA; Nischal, Ken K KK

Publication Date: 2019

Variant appearance in text: BRAF: 1497A>C; K499N

PubMed Link: 31192281

Variant Present in the following documents:

• Main text
• 10.1177_2333794X19846774.pdf

View BVdb publication page

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: BRAF: K499N

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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: 1497A>C; Lys499Asn

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: BRAF: K499N

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

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

Sheppard, Sarah S; Biswas, Sawona S; Li, Mindy H MH; Jayaraman, Vijayakumar V; Slack, Ian I; Romasko, Edward J EJ; Sasson, Ariella A; Brunton, Joshua J; Rajagopalan, Ramakrishnan R; Sarmady, Mahdi M; Abrudan, Jenica L JL; Jairam, Sowmya S; DeChene, Elizabeth T ET; Ying, Xiahoan X; Choi, Jiwon J; Wilkens, Alisha A; Raible, Sarah E SE; Scarano, Maria I MI; Santani, Avni A; Pennington, Jeffrey W JW; Luo, Minjie M; Conlin, Laura K LK; Devkota, Batsal B; Dulik, Matthew C MC; Spinner, Nancy B NB; Krantz, Ian D ID

Publication Date: 2018-12

Variant appearance in text: BRAF: 1497A>C

PubMed Link: 29907799

Variant Present in the following documents:

• 41436_2018_4_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive genomic sequencing detects important genetic differences between right-sided and left-sided colorectal cancer.

Oncotarget

Shimada, Yoshifumi Y; Kameyama, Hitoshi H; Nagahashi, Masayuki M; Ichikawa, Hiroshi H; Muneoka, Yusuke Y; Yagi, Ryoma R; Tajima, Yosuke Y; Okamura, Takuma T; Nakano, Masato M; Sakata, Jun J; Kobayashi, Takashi T; Nogami, Hitoshi H; Maruyama, Satoshi S; Takii, Yasumasa Y; Hayashida, Tetsu T; Takaishi, Hiromasa H; Kitagawa, Yuko Y; Oki, Eiji E; Konishi, Tsuyoshi T; Ishida, Fumio F; Kudo, Shin-Ei SE; Ring, Jennifer E JE; Protopopov, Alexei A; Lyle, Stephen S; Ling, Yiwei Y; Okuda, Shujiro S; Ishikawa, Takashi T; Akazawa, Kohei K; Takabe, Kazuaki K; Wakai, Toshifumi T

Publication Date: 2017-11-07

Variant appearance in text: BRAF: K499N

PubMed Link: 29212173

Variant Present in the following documents:

• oncotarget-08-93567-s003.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: 1497A>C; Lys499Asn

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: K499N

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: N/A

PubMed Link: 27478437

Variant Present in the following documents:

View BVdb publication page

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Targeted sequencing of refractory myeloma reveals a high incidence of mutations in CRBN and Ras pathway genes.

Blood

Kortüm, K Martin KM; Mai, Elias K EK; Hanafiah, Nur H NH; Shi, Chang-Xi CX; Zhu, Yuan-Xiao YX; Bruins, Laura L; Barrio, Santiago S; Jedlowski, Patrick P; Merz, Maximilian M; Xu, Jing J; Stewart, Robert A RA; Andrulis, Mindaugas M; Jauch, Anna A; Hillengass, Jens J; Goldschmidt, Hartmut H; Bergsagel, P Leif PL; Braggio, Esteban E; Stewart, A Keith AK; Raab, Marc S MS

Publication Date: 2016-09-01

Variant appearance in text: N/A

PubMed Link: 27458004

Variant Present in the following documents:

View BVdb publication page

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Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients.

Blood Cancer Journal

Kortuem, K M KM; Braggio, E E; Bruins, L L; Barrio, S S; Shi, C S CS; Zhu, Y X YX; Tibes, R R; Viswanatha, D D; Votruba, P P; Ahmann, G G; Fonseca, R R; Jedlowski, P P; Schlam, I I; Kumar, S S; Bergsagel, P L PL; Stewart, A K AK

Publication Date: 2016-02-26

Variant appearance in text: BRAF: Lys499Asn

PubMed Link: 26918361

Variant Present in the following documents:

• bcj20161x1.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: K499N

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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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: K499N

PubMed Link: 26150740

Variant Present in the following documents:

• Main text
• main.pdf

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: K499N

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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Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.

The British Journal Of Dermatology

Siegel, D H DH; McKenzie, J J; Frieden, I J IJ; Rauen, K A KA

Publication Date: 2011-03

Variant appearance in text: N/A

PubMed Link: 21062266

Variant Present in the following documents:

View BVdb publication page

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Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

Human Mutation

Sarkozy, Anna A; Carta, Claudio C; Moretti, Sonia S; Zampino, Giuseppe G; Digilio, Maria C MC; Pantaleoni, Francesca F; Scioletti, Anna Paola AP; Esposito, Giorgia G; Cordeddu, Viviana V; Lepri, Francesca F; Petrangeli, Valentina V; Dentici, Maria L ML; Mancini, Grazia M S GM; Selicorni, Angelo A; Rossi, Cesare C; Mazzanti, Laura L; Marino, Bruno B; Ferrero, Giovanni B GB; Silengo, Margherita Cirillo MC; Memo, Luigi L; Stanzial, Franco F; Faravelli, Francesca F; Stuppia, Liborio L; Puxeddu, Efisio E; Gelb, Bruce D BD; Dallapiccola, Bruno B; Tartaglia, Marco M

Publication Date: 2009-04

Variant appearance in text: BRAF: 1497A>C; Lys499Asn

PubMed Link: 19206169

Variant Present in the following documents:

• Main text

View BVdb publication page

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