Publications:

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Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Frontiers In Pharmacology

Panda, Gayatri G; Mishra, Neha N; Sharma, Disha D; Kutum, Rintu R; Bhoyar, Rahul C RC; Jain, Abhinav A; Imran, Mohamed M; Senthilvel, Vigneshwar V; Divakar, Mohit Kumar MK; Mishra, Anushree A; Garg, Parth P; Banerjee, Priyanka P; Sivasubbu, Sridhar S; Scaria, Vinod V; Ray, Arjun A

Publication Date: 2022

Variant appearance in text: RET: R231H; rs79661516

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: RET: R231H

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s008.xlsx, sheet 1

View BVdb publication page

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OncoScore: a novel, Internet-based tool to assess the oncogenic potential of genes.

Scientific Reports

Piazza, Rocco R; Ramazzotti, Daniele D; Spinelli, Roberta R; Pirola, Alessandra A; De Sano, Luca L; Ferrari, Pierangelo P; Magistroni, Vera V; Cordani, Nicoletta N; Sharma, Nitesh N; Gambacorti-Passerini, Carlo C

Publication Date: 2017-04-07

Variant appearance in text: RET: R231H

PubMed Link: 28387367

Variant Present in the following documents:

• srep46290-s1.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: RET: 692G>A; R231H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HSCR1: R231H; rs79661516

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.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: RET: R231H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

Human Molecular Genetics

McDonell, Laura M LM; Kernohan, Kristin D KD; Boycott, Kym M KM; Sawyer, Sarah L SL

Publication Date: 2015-10-15

Variant appearance in text: RET: R231H

PubMed Link: 26152202

Variant Present in the following documents:

• Main text

View BVdb publication page

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Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

European Journal Of Human Genetics : Ejhg

Jannot, Anne-Sophie AS; Amiel, Jeanne J; Pelet, Anna A; Lantieri, Francesca F; Fernandez, Raquel M RM; Verheij, Joke B G M JB; Garcia-Barcelo, Merce M; Arnold, Stacey S; Ceccherini, Isabella I; Borrego, Salud S; Hofstra, Robert M W RM; Tam, Paul K H PK; Munnich, Arnold A; Chakravarti, Aravinda A; Clerget-Darpoux, Françoise F; Lyonnet, Stanislas S

Publication Date: 2012-09

Variant appearance in text: RET: Arg231His

PubMed Link: 22395866

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization.

Human Mutation

Molatore, Sara S; Marinoni, Ilaria I; Lee, Misu M; Pulz, Elke E; Ambrosio, Maria Rosaria MR; degli Uberti, Ettore C EC; Zatelli, Maria Chiara MC; Pellegata, Natalia S NS

Publication Date: 2010-11

Variant appearance in text: RET: 692G>A

PubMed Link: 20824794

Variant Present in the following documents:

• Main text
• humu0031-E1825.pdf

View BVdb publication page

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The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease.

The Embo Journal

Bordeaux, M C MC; Forcet, C C; Granger, L L; Corset, V V; Bidaud, C C; Billaud, M M; Bredesen, D E DE; Edery, P P; Mehlen, P P

Publication Date: 2000-08-01

Variant appearance in text: RET: R231H

PubMed Link: 10921886

Variant Present in the following documents:

• Main text

View BVdb publication page

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