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: N/A

PubMed Link: 35865963

Variant Present in the following documents:

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: RET: 1825T>C; Cys609Arg

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China.

Bmc Cancer

Qi, Xiao-Ping XP; Zhao, Jian-Qiang JQ; Fang, Xu-Dong XD; Lian, Bi-Jun BJ; Li, Feng F; Wang, Hui-Hong HH; Cao, Zhi-Lie ZL; Zheng, Wei-Hui WH; Cao, Juan J; Chen, Yu Y

Publication Date: 2021-04-07

Variant appearance in text: RET: C609R

PubMed Link: 33827484

Variant Present in the following documents:

• Main text
• 12885_2021_Article_8116.pdf

View BVdb publication page

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A Narrative Review of Genetic Alterations in Primary Thyroid Epithelial Cancer.

International Journal Of Molecular Sciences

Romei, Cristina C; Elisei, Rossella R

Publication Date: 2021-02-09

Variant appearance in text: MEN2A: C609R

PubMed Link: 33572167

Variant Present in the following documents:

• Main text
• ijms-22-01726.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: RET: 1825T>C

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 3
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 5

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Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.

Genes

Elisei, Rossella R; Tacito, Alessia A; Ramone, Teresa T; Ciampi, Raffaele R; Bottici, Valeria V; Cappagli, Virginia V; Viola, David D; Matrone, Antonio A; Lorusso, Loredana L; Valerio, Laura L; Giani, Carlotta C; Campopiano, Cristina C; Prete, Alessandro A; Agate, Laura L; Molinaro, Eleonora E; Romei, Cristina C

Publication Date: 2019-09-10

Variant appearance in text: RET: C609R

PubMed Link: 31510104

Variant Present in the following documents:

• Main text
• genes-10-00698.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: RET: 1825T>C; C609R

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.

The Journal Of Clinical Endocrinology And Metabolism

Loveday, Chey C; Josephs, Katherine K; Chubb, Daniel D; Gunning, Adam A; Izatt, Louise L; Tischkowitz, Marc M; Ellard, Sian S; Turnbull, Clare C

Publication Date: 2018-11-01

Variant appearance in text: RET: Cys609Arg

PubMed Link: 29590403

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of Newly Identified and Rare Synonymous Genetic Variants in the RET Gene in Patients with Medullary Thyroid Carcinoma in Polish Population.

Endocrine Pathology

Sromek, Maria M; Czetwertyńska, Małgorzata M; Tarasińska, Magdalena M; Janiec-Jankowska, Aneta A; Zub, Renata R; Ćwikła, Maria M; Nowakowska, Dorota D; Chechlińska, Magdalena M

Publication Date: 2017-09

Variant appearance in text: RET: Cys609Arg

PubMed Link: 28647780

Variant Present in the following documents:

• Main text
• 12022_2017_Article_9487.pdf

View BVdb publication page

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Medullary Thyroid Carcinoma in MEN2A: ATA Moderate- or High-Risk RET Mutations Do Not Predict Disease Aggressiveness.

The Journal Of Clinical Endocrinology And Metabolism

Voss, Rachel K RK; Feng, Lei L; Lee, Jeffrey E JE; Perrier, Nancy D ND; Graham, Paul H PH; Hyde, Samuel M SM; Nieves-Munoz, Frances F; Cabanillas, Maria E ME; Waguespack, Steven G SG; Cote, Gilbert J GJ; Gagel, Robert F RF; Grubbs, Elizabeth G EG

Publication Date: 2017-08-01

Variant appearance in text: RET: C609R

PubMed Link: 28609830

Variant Present in the following documents:

• Main text

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: 1825T>C; Cys609Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

Plos One

Giannoulatou, Eleni E; Maher, Geoffrey J GJ; Ding, Zhihao Z; Gillis, Ad J M AJM; Dorssers, Lambert C J LCJ; Hoischen, Alexander A; Rajpert-De Meyts, Ewa E; , ; McVean, Gilean G; Wilkie, Andrew O M AOM; Looijenga, Leendert H J LHJ; Goriely, Anne A

Publication Date: 2017

Variant appearance in text: MEN2A: C609R

PubMed Link: 28542371

Variant Present in the following documents:

• pone.0178169.s009.xlsx, sheet 3

View BVdb publication page

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Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.

Thyroid : Official Journal Of The American Thyroid Association

Mathiesen, Jes Sloth JS; Kroustrup, Jens Peter JP; Vestergaard, Peter P; Stochholm, Kirstine K; Poulsen, Per Løgstrup PL; Rasmussen, Åse Krogh ÅK; Feldt-Rasmussen, Ulla U; Gaustadnes, Mette M; Ørntoft, Torben Falck TF; van Overeem Hansen, Thomas T; Nielsen, Finn Cilius FC; Brixen, Kim K; Godballe, Christian C; Frederiksen, Anja Lisbeth AL

Publication Date: 2017-02

Variant appearance in text: RET: C609R

PubMed Link: 27809725

Variant Present in the following documents:

• Main text
• thy.2016.0411.pdf

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: C609R; rs77558292

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: C609R

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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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: C609R; rs77558292

PubMed Link: 24144365

Variant Present in the following documents:

• Main text

View BVdb publication page

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Overexpression of miR-10a and miR-375 and downregulation of YAP1 in medullary thyroid carcinoma.

Experimental And Molecular Pathology

Hudson, Jena J; Duncavage, Eric E; Tamburrino, Anna A; Salerno, Paolo P; Xi, Liqiang L; Raffeld, Mark M; Moley, Jeffrey J; Chernock, Rebecca D RD

Publication Date: 2013-08

Variant appearance in text: MEN2A: C609R

PubMed Link: 23685355

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation.

Journal Of Korean Medical Science

Choi, Young Sik YS; Kwon, Hye Jung HJ; Kim, Bu Kyung BK; Kwon, Su Kyoung SK; Park, Yo Han YH; Kim, Jeong Hoon JH; Jung, Sang Bong SB; Lee, Chang Hoon CH; Lee, Seong Keun SK; Uchino, Shinya S

Publication Date: 2013-01

Variant appearance in text: RET: C609R

PubMed Link: 23341727

Variant Present in the following documents:

• jkms-28-156.pdf

View BVdb publication page

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RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.

The Journal Of Molecular Diagnostics : Jmd

Margraf, Rebecca L RL; Mao, Rong R; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Wittwer, Carl T CT

Publication Date: 2007-04

Variant appearance in text: RET: C609R

PubMed Link: 17384210

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial Hirschsprung's disease.

World Journal Of Gastroenterology

Guan, Tao T; Li, Ji-Cheng JC; Li, Min-Ju MJ; Tou, Jin-Fa JF

Publication Date: 2005-01-14

Variant appearance in text: RET: C609R

PubMed Link: 15633231

Variant Present in the following documents:

• Main text

View BVdb publication page

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