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: C609Y; rs77939446

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: RET: C609Y

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Gene Mutation Analysis in Papillary Thyroid Carcinoma Using a Multi-Gene Panel in China.

International Journal Of General Medicine

Wang, Qiang Q; Zhao, Ning N; Zhang, Jun J

Publication Date: 2021

Variant appearance in text: RET: C609Y

PubMed Link: 34511996

Variant Present in the following documents:

• Main text
• ijgm-14-5139.pdf

View BVdb publication page

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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: RET: 1826G>A; Cys609Tyr

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.pdf

View BVdb publication page

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A unique cardiovascular presentation of pheochromocytoma.

Sage Open Medical Case Reports

Orr, William B WB; Chokshi, Riti R; Groh, Georgeann G; Silva, Jennifer N Avari JNA; Van Hare, George F GF; Dalal, Aarti S AS

Publication Date: 2021

Variant appearance in text: RET: 1826G>A

PubMed Link: 33680468

Variant Present in the following documents:

• Main text

View BVdb publication page

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Understanding protein structural changes for oncogenic missense variants.

Heliyon

Hernandez, Rolando R; Facelli, Julio C JC

Publication Date: 2021-01

Variant appearance in text: RET: Cys609Tyr

PubMed Link: 33553733

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Nature

Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A

Publication Date: 2020-10

Variant appearance in text: RET: 1826G>A; Cys609Tyr

PubMed Link: 33087929

Variant Present in the following documents:

• 41586_2020_2853_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine

Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y

Publication Date: 2020-08-01

Variant appearance in text: RET: C609Y

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression.

Plos Genetics

Tomić, Tajana Tešan TT; Olausson, Josefin J; Rehammar, Anna A; Deland, Lily L; Muth, Andreas A; Ejeskär, Katarina K; Nilsson, Staffan S; Kristiansson, Erik E; Wassén, Ola Nilsson ON; Abel, Frida F

Publication Date: 2020-06

Variant appearance in text: RET: C609Y

PubMed Link: 32511227

Variant Present in the following documents:

• Main text
• pgen.1008803.pdf

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: RET: 1826G>A; C609Y

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Comprehensive Immune Profiling of Medullary Thyroid Cancer.

Thyroid : Official Journal Of The American Thyroid Association

Pozdeyev, Nikita N; Erickson, Timothy A TA; Zhang, Lian L; Ellison, Kim K; Rivard, Christopher J CJ; Sams, Sharon S; Hirsch, Fred R FR; Haugen, Bryan R BR; French, Jena D JD

Publication Date: 2020-09

Variant appearance in text: RET: C609Y

PubMed Link: 32242507

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: RET: C609Y

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Biomed Research International

Rosenthal, Sun Hee SH; Sun, Weimin W; Zhang, Ke K; Liu, Yan Y; Nguyen, Quoclinh Q; Gerasimova, Anna A; Nery, Camille C; Cheng, Linda L; Castonguay, Carolyn C; Hiller, Elaine E; Li, James J; Elzinga, Christopher C; Wolfson, David D; Smolgovsky, Alla A; Chen, Rebecca R; Buller-Burckle, Arlene A; Catanese, Joseph J; Grupe, Andrew A; Lacbawan, Felicitas F; Owen, Renius R

Publication Date: 2020

Variant appearance in text: RET: 1826G>A; Cys609Tyr

PubMed Link: 32090079

Variant Present in the following documents:

• BMRI2020-3289023.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: 1826G>A; C609Y

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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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: RET: 1826G>A; Cys609Tyr

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: RET: 1826G>A; Cys609Tyr

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Oncotarget

Tarlock, Katherine K; Zhong, Shan S; He, Yuting Y; Ries, Rhonda R; Severson, Eric E; Bailey, Mark M; Morley, Samantha S; Balasubramanian, Sohail S; Erlich, Rachel R; Lipson, Doron D; Otto, Geoff A GA; Vergillo, Jo-Anne JA; Kolb, E Anders EA; Ross, Jeffrey S JS; Mughal, Tariq T; Stephens, Philip J PJ; Miller, Vincent V; Meshinchi, Soheil S; He, Jie J

Publication Date: 2018-05-29

Variant appearance in text: RET: 1826G>A; C609Y

PubMed Link: 29899868

Variant Present in the following documents:

• oncotarget-09-26417-s005.xlsx, sheet 1

View BVdb publication page

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Genomic sequencing identifies secondary findings in a cohort of parent study participants.

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

Thompson, Michelle L ML; Finnila, Candice R CR; Bowling, Kevin M KM; Brothers, Kyle B KB; Neu, Matthew B MB; Amaral, Michelle D MD; Hiatt, Susan M SM; East, Kelly M KM; Gray, David E DE; Lawlor, James M J JMJ; Kelley, Whitley V WV; Lose, Edward J EJ; Rich, Carla A CA; Simmons, Shirley S; Levy, Shawn E SE; Myers, Richard M RM; Barsh, Gregory S GS; Bebin, E Martina EM; Cooper, Gregory M GM

Publication Date: 2018-12

Variant appearance in text: RET: C609Y

PubMed Link: 29790872

Variant Present in the following documents:

• Main text
• nihms952080.pdf

View BVdb publication page

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Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Oncotarget

Gudernova, Iva I; Balek, Lukas L; Varecha, Miroslav M; Kucerova, Jana Fialova JF; Kunova Bosakova, Michaela M; Fafilek, Bohumil B; Palusova, Veronika V; Uldrijan, Stjepan S; Trantirek, Lukas L; Krejci, Pavel P

Publication Date: 2017-12-12

Variant appearance in text: RET: C609Y

PubMed Link: 29312610

Variant Present in the following documents:

• Main text
• oncotarget-08-109319.pdf

View BVdb publication page

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Reduced Retinoblastoma Protein Expression Is Associated with Decreased Patient Survival in Medullary Thyroid Cancer.

Thyroid : Official Journal Of The American Thyroid Association

Valenciaga, Anisley A; Grubbs, Elizabeth G EG; Porter, Kyle K; Wakely, Paul E PE; Williams, Michelle D MD; Cote, Gilbert J GJ; Vasko, Vasyl V VV; Saji, Motoyasu M; Ringel, Matthew D MD

Publication Date: 2017-12

Variant appearance in text: RET: C609Y

PubMed Link: 29105562

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: MEN2A: Cys609Tyr

PubMed Link: 28647780

Variant Present in the following documents:

• Main text
• 12022_2017_Article_9487.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: 1826G>A; Cys609Tyr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genomic diagnosis for children with intellectual disability and/or developmental delay.

Genome Medicine

Bowling, Kevin M KM; Thompson, Michelle L ML; Amaral, Michelle D MD; Finnila, Candice R CR; Hiatt, Susan M SM; Engel, Krysta L KL; Cochran, J Nicholas JN; Brothers, Kyle B KB; East, Kelly M KM; Gray, David E DE; Kelley, Whitley V WV; Lamb, Neil E NE; Lose, Edward J EJ; Rich, Carla A CA; Simmons, Shirley S; Whittle, Jana S JS; Weaver, Benjamin T BT; Nesmith, Amy S AS; Myers, Richard M RM; Barsh, Gregory S GS; Bebin, E Martina EM; Cooper, Gregory M GM

Publication Date: 2017-05-30

Variant appearance in text: RET: 1826G>A; Cys609Tyr

PubMed Link: 28554332

Variant Present in the following documents:

• 13073_2017_433_MOESM7_ESM.xlsx, sheet 1

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: C609Y

PubMed Link: 28542371

Variant Present in the following documents:

• pone.0178169.s009.xlsx, sheet 3

View BVdb publication page

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The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

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

Baldridge, Dustin D; Heeley, Jennifer J; Vineyard, Marisa M; Manwaring, Linda L; Toler, Tomi L TL; Fassi, Emily E; Fiala, Elise E; Brown, Sarah S; Goss, Charles W CW; Willing, Marcia M; Grange, Dorothy K DK; Kozel, Beth A BA; Shinawi, Marwan M

Publication Date: 2017-09

Variant appearance in text: RET: 1826G>A

PubMed Link: 28252636

Variant Present in the following documents:

• NIHMS853380-supplement-supp_table1.xlsx, sheet 1

View BVdb publication page

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One reporter for in-cell activity profiling of majority of protein kinase oncogenes.

Elife

Gudernova, Iva I; Foldynova-Trantirkova, Silvie S; Ghannamova, Barbora El BE; Fafilek, Bohumil B; Varecha, Miroslav M; Balek, Lukas L; Hruba, Eva E; Jonatova, Lucie L; Jelinkova, Iva I; Kunova Bosakova, Michaela M; Trantirek, Lukas L; Mayer, Jiri J; Krejci, Pavel P

Publication Date: 2017-02-15

Variant appearance in text: RET: C609Y

PubMed Link: 28199182

Variant Present in the following documents:

• elife-21536-supp3.xlsx, sheet 2
• elife-21536-supp3.xlsx, sheet 1

View BVdb publication page

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Disease-modifying polymorphisms and C609Y mutation of RET associated with high penetrance of phaeochromocytoma and low rate of MTC in MEN2A.

Endocrinology, Diabetes & Metabolism Case Reports

Speak, Rowena R; Cook, Jackie J; Harrison, Barney B; Newell-Price, John J

Publication Date: 2016

Variant appearance in text: RET: C609Y

PubMed Link: 27994876

Variant Present in the following documents:

• Main text
• edmcr-2016-160093.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: C609Y; rs77939446

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: C609Y

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: C609Y

PubMed Link: 25425582

Variant Present in the following documents:

• supp_ERC-14-0491_Supplementary_table_3.xlsx, sheet 1

View BVdb publication page

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A prospective observational study of associated anomalies in Hirschsprung's disease.

Orphanet Journal Of Rare Diseases

Pini Prato, Alessio A; Rossi, Valentina V; Mosconi, Manuela M; Holm, Catarina C; Lantieri, Francesca F; Griseri, Paola P; Ceccherini, Isabella I; Mavilio, Domenico D; Jasonni, Vincenzo V; Tuo, Giulia G; Derchi, Maria M; Marasini, Maurizio M; Magnano, Gianmichele G; Granata, Claudio C; Ghiggeri, Gianmarco G; Priolo, Enrico E; Sposetti, Lorenza L; Porcu, Adelina A; Buffa, Piero P; Mattioli, Girolamo G

Publication Date: 2013-11-23

Variant appearance in text: RET: C609Y

PubMed Link: 24267509

Variant Present in the following documents:

• Main text
• 1750-1172-8-184.pdf

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: C609Y; rs77939446

PubMed Link: 24144365

Variant Present in the following documents:

• Main text
• 1472-6823-13-48.pdf

View BVdb publication page

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Translational research in endocrine surgery.

Surgical Oncology Clinics Of North America

Sherman, Scott K SK; Howe, James R JR

Publication Date: 2013-10

Variant appearance in text: MEN2A: C609Y

PubMed Link: 24012403

Variant Present in the following documents:

• Main text

View BVdb publication page

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Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.

Genome Medicine

Crockett, David K DK; Ridge, Perry G PG; Wilson, Andrew R AR; Lyon, Elaine E; Williams, Marc S MS; Narus, Scott P SP; Facelli, Julio C JC; Mitchell, Joyce A JA

Publication Date: 2012-05-28

Variant appearance in text: RET: C609Y

PubMed Link: 22640420

Variant Present in the following documents:

• Main text

View BVdb publication page

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RET codon 609 mutations: a contribution for better clinical managing.

Clinics (Sao Paulo, Brazil)

Mian, Caterina C; Sartorato, Paola P; Barollo, Susi S; Zane, Mariangela M; Opocher, Giuseppe G

Publication Date: 2012

Variant appearance in text: RET: Cys609Tyr

PubMed Link: 22584703

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of germline mutations in patients with pheochromocytoma or abdominal paraganglioma and sporadic presentation: a population-based study in Western Sweden.

World Journal Of Surgery

Muth, Andreas A; Abel, Frida F; Jansson, Svante S; Nilsson, Ola O; Ahlman, Håkan H; Wängberg, Bo B

Publication Date: 2012-06

Variant appearance in text: RET: Cys609Tyr

PubMed Link: 22270996

Variant Present in the following documents:

• Main text
• 268_2012_Article_1430.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: 1826G>A; C609Y

PubMed Link: 21738440

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: RET: C609Y

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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: 1826G>A; C609Y

PubMed Link: 20808642

Variant Present in the following documents:

• Main text

View BVdb publication page

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Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

Nature Genetics

Goriely, Anne A; Hansen, Ruth M S RM; Taylor, Indira B IB; Olesen, Inge A IA; Jacobsen, Grete Krag GK; McGowan, Simon J SJ; Pfeifer, Susanne P SP; McVean, Gilean A T GA; Rajpert-De Meyts, Ewa E; Wilkie, Andrew O M AO

Publication Date: 2009-11

Variant appearance in text: RET: C609Y

PubMed Link: 19855393

Variant Present in the following documents:

• NIHMS27834-supplement-2.xls, sheet 1

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: C609Y

PubMed Link: 17384210

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases.

The Journal Of Molecular Diagnostics : Jmd

Ahmed, Syed A SA; Snow-Bailey, Karen K; Highsmith, W Edward WE; Sun, Weimin W; Fenwick, Raymond G RG; Mao, Rong R

Publication Date: 2005-05

Variant appearance in text: MEN2A: C609Y

PubMed Link: 15858153

Variant Present in the following documents:

• Main text

View BVdb publication page

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