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: 736G>C; Ala246Pro

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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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Nature Communications

Bernkopf, Marie M; Abdullah, Ummi B UB; Bush, Stephen J SJ; Wood, Katherine A KA; Ghaffari, Sahar S; Giannoulatou, Eleni E; Koelling, Nils N; Maher, Geoffrey J GJ; Thibaut, Loïc M LM; Williams, Jonathan J; Blair, Edward M EM; Kelly, Fiona Blanco FB; Bloss, Angela A; Burkitt-Wright, Emma E; Canham, Natalie N; Deng, Alexander T AT; Dixit, Abhijit A; Eason, Jacqueline J; Elmslie, Frances F; Gardham, Alice A; Hay, Eleanor E; Holder, Muriel M; Homfray, Tessa T; Hurst, Jane A JA; Johnson, Diana D; Jones, Wendy D WD; Kini, Usha U; Kivuva, Emma E; Kumar, Ajith A; Lees, Melissa M MM; Leitch, Harry G HG; Morton, Jenny E V JEV; Németh, Andrea H AH; Ramachandrappa, Shwetha S; Saunders, Katherine K; Shears, Deborah J DJ; Side, Lucy L; Splitt, Miranda M; Stewart, Alison A; Stewart, Helen H; Suri, Mohnish M; Clouston, Penny P; Davies, Robert W RW; Wilkie, Andrew O M AOM; Goriely, Anne A

Publication Date: 2023-02-15

Variant appearance in text: BRAF: 736G>C; Ala246Pro

PubMed Link: 36792598

Variant Present in the following documents:

• 41467_2023_36606_MOESM4_ESM.xlsx, sheet 1

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: A246P

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: 736G>C

PubMed Link: 35770001

Variant Present in the following documents:

• Main text
• fgene-13-915129.pdf

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: 736G>C; Ala246Pro

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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: A246P

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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: Ala246Pro

PubMed Link: 34573299

Variant Present in the following documents:

• Main text
• genes-12-01316.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: 736G>C; A246P

PubMed Link: 34163525

Variant Present in the following documents:

• Main text
• fgene-12-669841.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: A246P

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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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: BRAF: 736G>C; Ala246Pro

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 12
• 13073_2019_683_MOESM2_ESM.xlsx, sheet 13

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: 736G>C; Ala246Pro

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: 736G>C; Ala246Pro

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: A246P; rs180177034

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.

Journal Of Biomedical Science

Wu-Chou, Yah-Huei YH; Hung, Tzu-Chao TC; Lin, Yin-Ting YT; Cheng, Hsing-Wen HW; Lin, Ju-Li JL; Lin, Chih-Hung CH; Yu, Chung-Chih CC; Chen, Kuo-Ting KT; Yeh, Tu-Hsueh TH; Chen, Yu-Ray YR

Publication Date: 2018-10-05

Variant appearance in text: BRAF: A246P

PubMed Link: 30290804

Variant Present in the following documents:

• Main text
• 12929_2018_Article_474.pdf

View BVdb publication page

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ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

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

Gelb, Bruce D BD; Cavé, Hélène H; Dillon, Mitchell W MW; Gripp, Karen W KW; Lee, Jennifer A JA; Mason-Suares, Heather H; Rauen, Katherine A KA; Williams, Bradley B; Zenker, Martin M; Vincent, Lisa M LM; ,

Publication Date: 2018-11

Variant appearance in text: BRAF: 736G>C

PubMed Link: 29493581

Variant Present in the following documents:

• NIHMS932006-supplement-Supplementary___Appendix__online_only_material__etc___2.xlsx, sheet 2

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: 736G>C; Ala246Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: rs180177034

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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: A246P

PubMed Link: 28404629

Variant Present in the following documents:

• supp_31.6.537_Supplemental_Materials.pdf

View BVdb publication page

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Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

Molecular Medicine Reports

Zhang, Jia J; Li, Ming M; Yao, Zhirong Z

Publication Date: 2016-11

Variant appearance in text: BRAF: Ala246Pro

PubMed Link: 27666661

Variant Present in the following documents:

• Main text

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: rs180177034

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: A246P

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: A246P

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: A246P

PubMed Link: 26150740

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and Molecular Findings of Tunisian Patients with RASopathies.

Molecular Syndromology

Louati, Rim R; Abdelmoula, N Bouayed NB; Trabelsi, Imen I; Abid, Dorra D; Lissewski, Christina C; Kharrat, Najla N; Kamoun, Samir S; Zenker, Martin M; Rebai, Tarek T

Publication Date: 2014-08

Variant appearance in text: BRAF: 736G>C; A246P

PubMed Link: 25337068

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: A246P

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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Single-molecule force measurement via optical tweezers reveals different kinetic features of two BRaf mutants responsible for cardio-facial-cutaneous (CFC) syndrome.

Biomedical Optics Express

Wen, Cheng C; Ye, Anpei A

Publication Date: 2013

Variant appearance in text: BRAF: A246P

PubMed Link: 24409384

Variant Present in the following documents:

• Main text

View BVdb publication page

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Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.

Molecular Syndromology

Croonen, E A EA; Nillesen, W W; Schrander, C C; Jongmans, M M; Scheffer, H H; Noordam, C C; Draaisma, J M T JM; van der Burgt, I I; Yntema, H G HG

Publication Date: 2013-06

Variant appearance in text: BRAF: 736G>C; Ala246Pro

PubMed Link: 23885229

Variant Present in the following documents:

• Main text

View BVdb publication page

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Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.

Human Molecular Genetics

Anastasaki, Corina C; Estep, Anne L AL; Marais, Richard R; Rauen, Katherine A KA; Patton, E Elizabeth EE

Publication Date: 2009-07-15

Variant appearance in text: BRAF: A246P

PubMed Link: 19376813

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: 736G>C; Ala246Pro

PubMed Link: 19206169

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: A246P

PubMed Link: 17704260

Variant Present in the following documents:

• Main text

View BVdb publication page

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