Publications:

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Triple-Negative Essential Thrombocythemia: Clinical-Pathological and Molecular Features. A Single-Center Cohort Study.

Frontiers In Oncology

Cattaneo, Daniele D; Croci, Giorgio Alberto GA; Bucelli, Cristina C; Tabano, Silvia S; Cannone, Marta Giulia MG; Gaudioso, Gabriella G; Barbanti, Maria Chiara MC; Barbullushi, Kordelia K; Bianchi, Paola P; Fermo, Elisa E; Fabris, Sonia S; Baldini, Luca L; Gianelli, Umberto U; Iurlo, Alessandra A

Publication Date: 2021

Variant appearance in text: KIT: 67+4G>A; rs72550820

PubMed Link: 33791220

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: KIT: 67+4G>A; rs72550820

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs72550820

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.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: KIT: 67+4G>A

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.

The Lancet. Respiratory Medicine

Wain, Louise V LV; Shrine, Nick N; Miller, Suzanne S; Jackson, Victoria E VE; Ntalla, Ioanna I; Soler Artigas, María M; Billington, Charlotte K CK; Kheirallah, Abdul Kader AK; Allen, Richard R; Cook, James P JP; Probert, Kelly K; Obeidat, Ma'en M; Bossé, Yohan Y; Hao, Ke K; Postma, Dirkje S DS; Paré, Peter D PD; Ramasamy, Adaikalavan A; , ; Mägi, Reedik R; Mihailov, Evelin E; Reinmaa, Eva E; Melén, Erik E; O'Connell, Jared J; Frangou, Eleni E; Delaneau, Olivier O; , ; Freeman, Colin C; Petkova, Desislava D; McCarthy, Mark M; Sayers, Ian I; Deloukas, Panos P; Hubbard, Richard R; Pavord, Ian I; Hansell, Anna L AL; Thomson, Neil C NC; Zeggini, Eleftheria E; Morris, Andrew P AP; Marchini, Jonathan J; Strachan, David P DP; Tobin, Martin D MD; Hall, Ian P IP

Publication Date: 2015-10

Variant appearance in text: rs72550820

PubMed Link: 26423011

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs72550820

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: rs72550820

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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