Publications:

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Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: BRAF: K601Q

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM4_ESM.xls, sheet 2

View BVdb publication page

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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: 1801A>C; Lys601Gln

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: K601Q

PubMed Link: 36448195

Variant Present in the following documents:

• Main text
• AJMG-190-501.pdf

View BVdb publication page

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Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Frontiers In Endocrinology

Ma, Xiaosen X; Ling, Chao C; Zhao, Meng M; Wang, Fen F; Cui, Yunying Y; Wen, Jin J; Ji, Zhigang Z; Zhang, Caili C; Chen, Shi S; Tong, Anli A; Li, Yuxiu Y

Publication Date: 2022

Variant appearance in text: N/A

PubMed Link: 35966080

Variant Present in the following documents:

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: 1801A>C; Lys601Gln

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.

Cancers

Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Gattei, Valter V; Zucchetto, Antonella A

Publication Date: 2022-01-28

Variant appearance in text: BRAF: K601Q

PubMed Link: 35158933

Variant Present in the following documents:

• Main text
• cancers-14-00666.pdf

View BVdb publication page

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KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.

Cancers

Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Gattei, Valter V; Zucchetto, Antonella A

Publication Date: 2022-01-28

Variant appearance in text: BRAF: K601Q

PubMed Link: 35158933

Variant Present in the following documents:

• Main text
• cancers-14-00666.pdf

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs121913364

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs121913364

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Acetylation-dependent regulation of BRAF oncogenic function.

Cell Reports

Dai, Xiangpeng X; Zhang, Xiaoling X; Yin, Qing Q; Hu, Jia J; Guo, Jianping J; Gao, Yang Y; Snell, Aidan H AH; Inuzuka, Hiroyuki H; Wan, Lixin L; Wei, Wenyi W

Publication Date: 2022-01-18

Variant appearance in text: BRAF: K601Q

PubMed Link: 35045286

Variant Present in the following documents:

• Main text
• NIHMS1772773-supplement-1.pdf
• nihms-1772773.pdf

View BVdb publication page

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Acetylation-dependent regulation of BRAF oncogenic function.

Cell Reports

Dai, Xiangpeng X; Zhang, Xiaoling X; Yin, Qing Q; Hu, Jia J; Guo, Jianping J; Gao, Yang Y; Snell, Aidan H AH; Inuzuka, Hiroyuki H; Wan, Lixin L; Wei, Wenyi W

Publication Date: 2022-01-18

Variant appearance in text: BRAF: K601Q

PubMed Link: 35045286

Variant Present in the following documents:

• Main text
• NIHMS1772773-supplement-1.pdf
• nihms-1772773.pdf

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: BRAF: K601Q

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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High Incidence of C797S Mutation in Patients With Long Treatment History of EGFR Tyrosine Kinase Inhibitors Including Osimertinib.

Jto Clinical And Research Reports

Osoegawa, Atsushi A; Yamaguchi, Masafumi M; Nakamura, Tomomi T; Morinaga, Ryotaro R; Tanaka, Kentaro K; Kashiwabara, Kosuke K; Miura, Takashi T; Suetsugu, Takayuki T; Harada, Taishi T; Asoh, Tatsuma T; Taguchi, Kenichi K; Nabeshima, Kazuki K; Kishimoto, Junji J; Sakai, Kazuko K; Nishio, Kazuto K; Sugio, Kenji K

Publication Date: 2021-07

Variant appearance in text: rs121913364

PubMed Link: 34590037

Variant Present in the following documents:

• mmc1.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: Lys601Gln

PubMed Link: 34573299

Variant Present in the following documents:

• Main text
• genes-12-01316.pdf

View BVdb publication page

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Comorbidities associated with genetic abnormalities in children with intellectual disability.

Scientific Reports

Chen, Jia-Shing JS; Yu, Wen-Hao WH; Tsai, Meng-Che MC; Hung, Pi-Lien PL; Tu, Yi-Fang YF

Publication Date: 2021-03-22

Variant appearance in text: BRAF: 1801A>C

PubMed Link: 33753861

Variant Present in the following documents:

• 41598_2021_Article_86131.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: Lys601Gln

PubMed Link: 33482860

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1674.pdf

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs121913364

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Somatic Mutation Profiling of Intrahepatic Cholangiocarcinoma: Comparison between Primary and Metastasis Tumor Tissues.

Journal Of Oncology

Xu, Shi-Feng SF; Guo, Yuan Y; Zhang, Xin X; Zhu, Xiao-Dan XD; Fan, Ning N; Zhang, Zhi-Lei ZL; Ren, Gui-Bing GB; Rao, Wei W; Zang, Yun-Jin YJ

Publication Date: 2020

Variant appearance in text: BRAF: K601Q

PubMed Link: 33014052

Variant Present in the following documents:

• Main text
• JO2020-5675020.pdf

View BVdb publication page

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Mutations in the BRAF, NRAS, and C-KIT Genes of Patients Diagnosed with Melanoma in Colombia Population.

Biomed Research International

Gutiérrez-Castañeda, Luz D LD; Gamboa, Mauricio M; Nova, John A JA; Pulido, Leonardo L; Tovar-Parra, Jose D JD

Publication Date: 2020

Variant appearance in text: BRAF: Lys601Gln

PubMed Link: 32775409

Variant Present in the following documents:

• Main text
• BMRI2020-2046947.pdf

View BVdb publication page

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The McCAVE Trial: Vanucizumab plus mFOLFOX-6 Versus Bevacizumab plus mFOLFOX-6 in Patients with Previously Untreated Metastatic Colorectal Carcinoma (mCRC).

The Oncologist

Bendell, Johanna C JC; Sauri, Tamara T; Gracián, Antonio Cubillo AC; Alvarez, Rafael R; López-López, Carlos C; García-Alfonso, Pilar P; Hussein, Maen M; Miron, Maria-Luisa Limon ML; Cervantes, Andrés A; Montagut, Clara C; Vivas, Cristina Santos CS; Bessudo, Alberto A; Plezia, Patricia P; Moons, Veerle V; Andel, Johannes J; Bennouna, Jaafar J; van der Westhuizen, Andre A; Samuel, Leslie L; Rossomanno, Simona S; Boetsch, Christophe C; Lahr, Angelika A; Franjkovic, Izolda I; Heil, Florian F; Lechner, Katharina K; Krieter, Oliver O; Hurwitz, Herbert H; ,

Publication Date: 2020-03

Variant appearance in text: BRAF: K601Q

PubMed Link: 32162804

Variant Present in the following documents:

• Main text
• ONCO-25-e451.pdf

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: BRAF: K601Q

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: BRAF: K601Q

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM5_ESM.xlsx, sheet 1
• 12920_2019_543_MOESM8_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: 1801A>C; Lys601Gln

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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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: K601Q

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: 1801A>C; Lys601Gln

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Accurate diagnosis of mismatch repair deficiency in colorectal cancer using high-quality DNA samples from cultured stem cells.

Oncotarget

Yamaura, Tadayoshi T; Miyoshi, Hiroyuki H; Maekawa, Hisatsugu H; Morimoto, Tomonori T; Yamamoto, Takehito T; Kakizaki, Fumihiko F; Higasa, Koichiro K; Kawada, Kenji K; Matsuda, Fumihiko F; Sakai, Yoshiharu Y; Taketo, M Mark MM

Publication Date: 2018-12-25

Variant appearance in text: BRAF: K601Q

PubMed Link: 30680068

Variant Present in the following documents:

• oncotarget-09-37534-s002.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: K601Q

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.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: 1801A>C; Lys601Gln

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: K601Q

PubMed Link: 28404629

Variant Present in the following documents:

• supp_31.6.537_Supplemental_Materials.pdf

View BVdb publication page

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Association of BRAF V600E Mutation and MicroRNA Expression with Central Lymph Node Metastases in Papillary Thyroid Cancer: A Prospective Study from Four Endocrine Surgery Centers.

Thyroid : Official Journal Of The American Thyroid Association

Han, Patricia Aragon PA; Kim, Hyun-seok HS; Cho, Soonweng S; Fazeli, Roghayeh R; Najafian, Alireza A; Khawaja, Hunain H; McAlexander, Melissa M; Dy, Benzon B; Sorensen, Meredith M; Aronova, Anna A; Sebo, Thomas J TJ; Giordano, Thomas J TJ; Fahey, Thomas J TJ; Thompson, Geoffrey B GB; Gauger, Paul G PG; Somervell, Helina H; Bishop, Justin A JA; Eshleman, James R JR; Schneider, Eric B EB; Witwer, Kenneth W KW; Umbricht, Christopher B CB; Zeiger, Martha A MA

Publication Date: 2016-04

Variant appearance in text: BRAF: K601Q

PubMed Link: 26950846

Variant Present in the following documents:

• Main text

View BVdb publication page

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Simultaneously Detection of 50 Mutations at 20 Sites in the BRAF and RAS Genes by Multiplexed Single-Nucleotide Primer Extension Assay Using Fine-Needle Aspirates of Thyroid Nodules.

The Yale Journal Of Biology And Medicine

Stence, Aaron A AA; Gailey, Michael P MP; Robinson, Robert A RA; Jensen, Chris S CS; Ma, Deqin D

Publication Date: 2015-12

Variant appearance in text: BRAF: K601Q

PubMed Link: 26604858

Variant Present in the following documents:

• Main text
• yjbm_88_4_351.pdf

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: BRAF: K601Q

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
• NIHMS65345-supplement-Supplementary_table_3.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: K601Q

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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NRAS (Q61R), BRAF (V600E) immunohistochemistry: a concomitant tool for mutation screening in melanomas.

Diagnostic Pathology

Uguen, Arnaud A; Talagas, Matthieu M; Costa, Sebastian S; Samaison, Laura L; Paule, Laure L; Alavi, Zarrin Z; De Braekeleer, Marc M; Le Marechal, Cédric C; Marcorelles, Pascale P

Publication Date: 2015-07-25

Variant appearance in text: BRAF: K601Q

PubMed Link: 26204954

Variant Present in the following documents:

• Main text

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: K601Q

PubMed Link: 26150740

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Clinicopathological features of rare BRAF mutations in Korean thyroid cancer patients.

Journal Of Korean Medical Science

Cho, Uiju U; Oh, Woo Jin WJ; Bae, Ja Seong JS; Lee, Sohee S; Lee, Young Sub YS; Park, Gyeong Sin GS; Lee, Youn Soo YS; Jung, Chan Kwon CK

Publication Date: 2014-08

Variant appearance in text: BRAF: 1801A>C

PubMed Link: 25120313

Variant Present in the following documents:

• Main text
• jkms-29-1054.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: K601Q

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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Clinical utility of immunohistochemistry for the detection of the BRAF v600e mutation in papillary thyroid carcinoma.

Surgery

Zagzag, Jonathan J; Pollack, Aron A; Dultz, Linda L; Dhar, Shumon S; Ogilvie, Jennifer B JB; Heller, Keith S KS; Deng, Fang-Ming FM; Patel, Kepal N KN

Publication Date: 2013-12

Variant appearance in text: BRAF: K601Q

PubMed Link: 23931769

Variant Present in the following documents:

• Main text

View BVdb publication page

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Micropthalmia transcription factor (MITF) as a diagnostic marker for metastatic melanomas negative for other melanoma markers.

International Journal Of Clinical And Experimental Pathology

Guo, Ruifeng R; Franco-Palacios, Maria M; Russell, Madison M; Goddard, Lindsey L; Hassell, Lewis L; Gillies, Elizabeth E; Fung, Kar-Ming KM

Publication Date: 2013

Variant appearance in text: BRAF: K601Q

PubMed Link: 23923085

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: BRAF: K601Q

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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Automated universal BRAF state detection within the activation segment in skin metastases by pyrosequencing-based assay U-BRAF(V600).

Plos One

Skorokhod, Alexander A; Helmbold, Peter P; Brors, Benedikt B; Schirmacher, Peter P; Enk, Alexander A; Penzel, Roland R

Publication Date: 2013

Variant appearance in text: BRAF: K601Q

PubMed Link: 23555633

Variant Present in the following documents:

• Main text
• pone.0059221.pdf
• pone.0059221.s002.pdf

View BVdb publication page

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RASopathies: Clinical Diagnosis in the First Year of Life.

Molecular Syndromology

Digilio, M C MC; Lepri, F F; Baban, A A; Dentici, M L ML; Versacci, P P; Capolino, R R; Ferese, R R; De Luca, A A; Tartaglia, M M; Marino, B B; Dallapiccola, B B

Publication Date: 2011-09

Variant appearance in text: BRAF: 1801A>C; K601Q

PubMed Link: 22190897

Variant Present in the following documents:

• Main text

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: 1801A>C; Lys601Gln

PubMed Link: 19206169

Variant Present in the following documents:

• Main text

View BVdb publication page

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