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: 1914T>A; Asp638Glu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: D638E

PubMed Link: 36448195

Variant Present in the following documents:

• Main text
• AJMG-190-501.pdf

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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: D638E

PubMed Link: 35158933

Variant Present in the following documents:

• Main text
• cancers-14-00666.pdf

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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: D638E

PubMed Link: 35158933

Variant Present in the following documents:

• Main text
• cancers-14-00666.pdf

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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: Asp638Glu

PubMed Link: 34573299

Variant Present in the following documents:

• Main text
• genes-12-01316.pdf

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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: D638E

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Endocrine abnormalities in cardiofaciocutaneous syndrome: a case of precocious puberty, hyperprolactinemia and diabetes insipidus.

Bmj Case Reports

Lenet, Stephanie S; Polychronakos, Constantin C

Publication Date: 2019-06-18

Variant appearance in text: BRAF: D638E

PubMed Link: 31217210

Variant Present in the following documents:

• Main text

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: D638E

PubMed Link: 30236064

Variant Present in the following documents:

• Main text
• 12883_2018_Article_1157.pdf

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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: 1914T>A; Asp638Glu

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: D638E

PubMed Link: 28404629

Variant Present in the following documents:

• supp_31.6.537_Supplemental_Materials.pdf

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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: D638E; rs180177042

PubMed Link: 27478437

Variant Present in the following documents:

• Main text
• ABI2016-2632917.pdf

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Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

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

Sajan, Samin A SA; Jhangiani, Shalini N SN; Muzny, Donna M DM; Gibbs, Richard A RA; Lupski, James R JR; Glaze, Daniel G DG; Kaufmann, Walter E WE; Skinner, Steven A SA; Annese, Fran F; Friez, Michael J MJ; Lane, Jane J; Percy, Alan K AK; Neul, Jeffrey L JL

Publication Date: 2017-01

Variant appearance in text: BRAF: D638E

PubMed Link: 27171548

Variant Present in the following documents:

• Main text
• NIHMS769804-supplement-Supplementary___Appendix__online_only_material__etc___2.xls, sheet 2

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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: D638E

PubMed Link: 26203125

Variant Present in the following documents:

• supp_8.8.769_DMM020339supp.pdf

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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: D638E

PubMed Link: 26150740

Variant Present in the following documents:

• Main text

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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: D638E

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

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Ras in cancer and developmental diseases.

Genes & Cancer

Fernández-Medarde, Alberto A; Santos, Eugenio E

Publication Date: 2011-03

Variant appearance in text: BRAF: D638E

PubMed Link: 21779504

Variant Present in the following documents:

• Main text

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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: D638E

PubMed Link: 19376813

Variant Present in the following documents:

• Main text

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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: 1914T>A; Asp638Glu

PubMed Link: 19206169

Variant Present in the following documents:

• Main text

View BVdb publication page

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