Publications:

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Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Frontiers In Genetics

Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X

Publication Date: 2022

Variant appearance in text: RET: 1859G>A

PubMed Link: 36386804

Variant Present in the following documents:

• Table1.xls, sheet 2
• Table1.xls, sheet 3

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: C620Y; rs77503355

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

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Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.

Bmc Medicine

Savatt, Juliann M JM; Ortiz, Nicole M NM; Thone, Gretchen M GM; McDonald, Whitney S WS; Kelly, Melissa A MA; Berry, Alexander S F ASF; Alvi, Madiha M MM; Hallquist, Miranda L G MLG; Malinowski, Jennifer J; Purdy, Nicholas C NC; Williams, Marc S MS; Sturm, Amy C AC; Buchanan, Adam H AH

Publication Date: 2022-06-07

Variant appearance in text: RET: 1859G>A; Cys620Tyr

PubMed Link: 35668420

Variant Present in the following documents:

• Main text
• 12916_2022_2375_MOESM1_ESM.xlsx, sheet 1
• 12916_2022_Article_2375.pdf

View BVdb publication page

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Afirma Genomic Sequencing Classifier and Xpression Atlas Molecular Findings in Consecutive Bethesda III-VI Thyroid Nodules.

The Journal Of Clinical Endocrinology And Metabolism

Hu, Mimi I MI; Waguespack, Steven G SG; Dosiou, Chrysoula C; Ladenson, Paul W PW; Livhits, Masha J MJ; Wirth, Lori J LJ; Sadow, Peter M PM; Krane, Jeffrey F JF; Stack, Brendan C BC; Zafereo, Mark E ME; Ali, Syed Z SZ; Weitzman, Steven P SP; Hao, Yangyang Y; Babiarz, Joshua E JE; Kennedy, Giulia C GC; Kloos, Richard T RT

Publication Date: 2021-07-13

Variant appearance in text: RET: C620Y

PubMed Link: 34009369

Variant Present in the following documents:

• Main text

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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Chinese siblings with hereditary medullary thyroid carcinoma caused by RET mutation: implications for RET oncogene detection.

Bmc Endocrine Disorders

Huang, Qin Q; Hu, Aihua A; Zhang, Mingsheng M

Publication Date: 2020-05-14

Variant appearance in text: RET: C620Y

PubMed Link: 32408902

Variant Present in the following documents:

• Main text
• 12902_2020_Article_544.pdf

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: RET: C620Y

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: 1859G>A; C620Y

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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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>A; Cys620Tyr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Differences in the transcriptome of medullary thyroid cancer regarding the status and type of RET gene mutations.

Scientific Reports

Oczko-Wojciechowska, Malgorzata M; Swierniak, Michal M; Krajewska, Jolanta J; Kowalska, Malgorzata M; Kowal, Monika M; Stokowy, Tomasz T; Wojtas, Bartosz B; Rusinek, Dagmara D; Pawlaczek, Agnieszka A; Czarniecka, Agnieszka A; Szpak-Ulczok, Sylwia S; Gawlik, Tomasz T; Chmielik, Ewa E; Tyszkiewicz, Tomasz T; Nikiel, Barbara B; Lange, Dariusz D; Jarzab, Michal M; Wiench, Malgorzata M; Jarzab, Barbara B

Publication Date: 2017-02-09

Variant appearance in text: MEN2A: C620Y

PubMed Link: 28181547

Variant Present in the following documents:

• srep42074-s1.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: MEN2A: C620Y; 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: C620Y

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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Plot protein: visualization of mutations.

Journal Of Clinical Bioinformatics

Turner, Tychele T

Publication Date: 2013-07-22

Variant appearance in text: MEN2A: C620Y

PubMed Link: 23876180

Variant Present in the following documents:

• 2043-9113-3-14.pdf

View BVdb publication page

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Somatic RAS mutations occur in a large proportion of sporadic RET-negative medullary thyroid carcinomas and extend to a previously unidentified exon.

The Journal Of Clinical Endocrinology And Metabolism

Boichard, A A; Croux, L L; Al Ghuzlan, A A; Broutin, S S; Dupuy, C C; Leboulleux, S S; Schlumberger, M M; Bidart, J M JM; Lacroix, L L

Publication Date: 2012-10

Variant appearance in text: RET: Cys620Tyr

PubMed Link: 22865907

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.

Bmc Medical Genetics

Núñez-Torres, Rocio R; Fernández, Raquel M RM; Acosta, Manuel Jesus MJ; Enguix-Riego, Maria Del Valle Mdel V; Marbá, Martina M; Carlos de Agustín, Juan J; Castaño, Luis L; Antiñolo, Guillermo G; Borrego, Salud S

Publication Date: 2011-10-13

Variant appearance in text: RET: 1859G>A; Cys620Tyr

PubMed Link: 21995290

Variant Present in the following documents:

• Main text
• 1471-2350-12-138.pdf

View BVdb publication page

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Vandetanib for the treatment of patients with locally advanced or metastatic hereditary medullary thyroid cancer.

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

Wells, Samuel A SA; Gosnell, Jessica E JE; Gagel, Robert F RF; Moley, Jeffrey J; Pfister, David D; Sosa, Julie A JA; Skinner, Michael M; Krebs, Annetta A; Vasselli, James J; Schlumberger, Martin M

Publication Date: 2010-02-10

Variant appearance in text: RET: C620Y

PubMed Link: 20065189

Variant Present in the following documents:

• Main text

View BVdb publication page

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