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: C620W; rs79890926

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.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: RET: C620W; rs79890926

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Medullary Thyroid Carcinoma With Exon 2 p.L56M RET Variant: Clinical Particular Features in Two Patients.

Frontiers In Endocrinology

Paragliola, Rosa M RM; Lovicu, Rosa M RM; Papi, Giampaolo G; Capoluongo, Ettore E; Minucci, Angelo A; Canu, Giulia G; Pontecorvi, Alfredo A; Corsello, Salvatore M SM

Publication Date: 2018

Variant appearance in text: RET: C620W

PubMed Link: 30072953

Variant Present in the following documents:

• Main text
• fendo-09-00398.pdf

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: RET: 1860C>G; Cys620Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.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: MEN2A: C620W

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: C620W

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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Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Endocrine-Related Cancer

Toledo, Rodrigo A RA; Hatakana, Roxanne R; Lourenço, Delmar M DM; Lindsey, Susan C SC; Camacho, Cleber P CP; Almeida, Marcio M; Lima, José V JV; Sekiya, Tomoko T; Garralda, Elena E; Naslavsky, Michel S MS; Yamamoto, Guilherme L GL; Lazar, Monize M; Meirelles, Osorio O; Sobreira, Tiago J P TJ; Lebrao, Maria Lucia ML; Duarte, Yeda A O YA; Blangero, John J; Zatz, Mayana M; Cerutti, Janete M JM; Maciel, Rui M B RM; Toledo, Sergio P A SP

Publication Date: 2015-02

Variant appearance in text: RET: C620W

PubMed Link: 25425582

Variant Present in the following documents:

• supp_ERC-14-0491_Supplementary_table_4.xlsx, sheet 1

View BVdb publication page

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Familial multinodular goiter syndrome with papillary thyroid carcinomas: mutational analysis of the associated genes in 5 cases from 1 Chinese family.

Bmc Endocrine Disorders

Liao, Shunyao S; Song, Wenzhong W; Liu, Yunqiang Y; Deng, Shaoping S; Liang, Yaming Y; Tang, Zhenlin Z; Huang, Jiyuan J; Dong, Dandan D; Xu, Gang G

Publication Date: 2013-10-21

Variant appearance in text: RET: C620W; rs79890926

PubMed Link: 24144365

Variant Present in the following documents:

• Main text
• 1472-6823-13-48.pdf

View BVdb publication page

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Hirschsprung disease of the colon, a vaginal mass and medullary thyroid cancer - a RET oncogene driven problem.

Journal Of Gastrointestinal Oncology

Pandey, Romy R; Thurow, Tiffany T; de W Marsh, Robert R

Publication Date: 2011-12

Variant appearance in text: RET: C620W

PubMed Link: 22811860

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Hirschsprung's-multiple endocrine neoplasia connection.

Clinics (Sao Paulo, Brazil)

Moore, Sam W SW; Zaahl, Monique M

Publication Date: 2012

Variant appearance in text: RET: C620W

PubMed Link: 22584708

Variant Present in the following documents:

• Main text
• cln-67-s1-63.pdf

View BVdb publication page

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Variant identification in multi-sample pools by illumina genome analyzer sequencing.

Journal Of Biomolecular Techniques : Jbt

Margraf, Rebecca L RL; Durtschi, Jacob D JD; Dames, Shale S; Pattison, David C DC; Stephens, Jack E JE; Voelkerding, Karl V KV

Publication Date: 2011-07

Variant appearance in text: RET: 1860C>G

PubMed Link: 21738440

Variant Present in the following documents:

• Main text

View BVdb publication page

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Activity of XL184 (Cabozantinib), an oral tyrosine kinase inhibitor, in patients with medullary thyroid cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Kurzrock, Razelle R; Sherman, Steven I SI; Ball, Douglas W DW; Forastiere, Arlene A AA; Cohen, Roger B RB; Mehra, Ranee R; Pfister, David G DG; Cohen, Ezra E W EE; Janisch, Linda L; Nauling, Forlisa F; Hong, David S DS; Ng, Chaan S CS; Ye, Lei L; Gagel, Robert F RF; Frye, John J; Müller, Thomas T; Ratain, Mark J MJ; Salgia, Ravi R

Publication Date: 2011-07-01

Variant appearance in text: RET: C620W

PubMed Link: 21606412

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multi-sample pooling and illumina genome analyzer sequencing methods to determine gene sequence variation for database development.

Journal Of Biomolecular Techniques : Jbt

Margraf, Rebecca L RL; Durtschi, Jacob D JD; Dames, Shale S; Pattison, David C DC; Stephens, Jack E JE; Mao, Rong R; Voelkerding, Karl V KV

Publication Date: 2010-09

Variant appearance in text: RET: 1860C>G

PubMed Link: 20808642

Variant Present in the following documents:

• Main text

View BVdb publication page

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