Publications:

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Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.

World Journal Of Pediatrics : Wjp

Xiao, Jun J; Hao, Lu-Wen LW; Wang, Jing J; Yu, Xiao-Si XS; You, Jing-Yi JY; Li, Ze-Jian ZJ; Mao, Han-Dan HD; Meng, Xin-Yao XY; Feng, Jie-Xiong JX

Publication Date: 2023-03-01

Variant appearance in text: RET: C620S

PubMed Link: 36857021

Variant Present in the following documents:

• 12519_2023_Article_686.pdf

View BVdb publication page

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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: C620S; rs77503355

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

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Is Encapsulated Medullary Thyroid Carcinoma Associated With a Better Prognosis? A Case Series and a Review of the Literature.

Frontiers In Endocrinology

Contarino, Andrea A; Dolci, Alessia A; Maggioni, Marco M; Porta, Francesca Maria FM; Lopez, Gianluca G; Verga, Uberta U; Elli, Francesca Marta FM; Iofrida, Elisabetta Francesca EF; Cantoni, Gianmaria G; Mantovani, Giovanna G; Arosio, Maura M

Publication Date: 2022

Variant appearance in text: RET: C620S

PubMed Link: 35574005

Variant Present in the following documents:

• Main text
• fendo-13-866572.pdf

View BVdb publication page

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The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.

Frontiers In Pediatrics

Karim, Anwarul A; Tang, Clara Sze-Man CS; Tam, Paul Kwong-Hang PK

Publication Date: 2021

Variant appearance in text: RET: 1859G>C

PubMed Link: 34422713

Variant Present in the following documents:

• Main text
• fped-09-638093.pdf

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: C620S

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: C620S

PubMed Link: 33572167

Variant Present in the following documents:

• Main text
• ijms-22-01726.pdf

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs77503355

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.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: C620S

PubMed Link: 32242507

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: MEN2A: C620S

PubMed Link: 31510104

Variant Present in the following documents:

• Main text
• genes-10-00698.pdf

View BVdb publication page

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Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a RET mutation.

Bmj Case Reports

Wood, Olivia R OR; Else, Tobias T; Sampson, Matthew G MG

Publication Date: 2019-08-30

Variant appearance in text: MEN2A: C620S

PubMed Link: 31471357

Variant Present in the following documents:

• Main text

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: C620S

PubMed Link: 30072953

Variant Present in the following documents:

• Main text
• fendo-09-00398.pdf

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: C620S

PubMed Link: 29590403

Variant Present in the following documents:

• Main text

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: C620S

PubMed Link: 29105562

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: 1859G>C; Cys620Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research

Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U

Publication Date: 2017-04

Variant appearance in text: RET: 1859G>C; C620S

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

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: C620S; rs77503355

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: C620S

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: 1859G>C; C620S

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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Multiple endocrine neoplasia type 2: achievements and current challenges.

Clinics (Sao Paulo, Brazil)

Machens, Andreas A; Dralle, Henning H

Publication Date: 2012

Variant appearance in text: RET: C620S

PubMed Link: 22584715

Variant Present in the following documents:

• Main text

View BVdb publication page

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RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.

Clinics (Sao Paulo, Brazil)

Quedas, Elisangela P S EP; Longuini, Viviane C VC; Sekiya, Tomoko T; Coutinho, Flavia L FL; Toledo, Sergio P A SP; Tannuri, Uenis U; Toledo, Rodrigo A RA

Publication Date: 2012

Variant appearance in text: RET: C620S

PubMed Link: 22584707

Variant Present in the following documents:

• cln-67-s1-57.pdf

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: C620S

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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Correlation of RET somatic mutations with clinicopathological features in sporadic medullary thyroid carcinomas.

British Journal Of Cancer

Moura, M M MM; Cavaco, B M BM; Pinto, A E AE; Domingues, R R; Santos, J R JR; Cid, M O MO; Bugalho, M J MJ; Leite, V V

Publication Date: 2009-06-02

Variant appearance in text: RET: Cys620Ser

PubMed Link: 19401695

Variant Present in the following documents:

• 6605056a.pdf

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: RET: C620S

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2
• gkn1008_nar-01723-s-2008-File011.xls, sheet 2

View BVdb publication page

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