Publications:

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A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences

Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT

Publication Date: 2022

Variant appearance in text: RET: A45A

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 10

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Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients.

Frontiers In Endocrinology

Mathiesen, Jes Sloth JS; Nielsen, Søren Grønlund SG; Rasmussen, Åse Krogh ÅK; Kiss, Katalin K; Wadt, Karin K; Hermann, Anne Pernille AP; Nielsen, Morten Frost MF; Larsen, Stine Rosenkilde SR; Brusgaard, Klaus K; Frederiksen, Anja Lisbeth AL; Godballe, Christian C; Rossing, Maria M

Publication Date: 2020

Variant appearance in text: RET: A45A

PubMed Link: 32411094

Variant Present in the following documents:

• Main text
• fendo-11-00251.pdf

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Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics

Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D

Publication Date: 2019

Variant appearance in text: RET: A45A

PubMed Link: 31660073

Variant Present in the following documents:

• thnov09p6856s2.xlsx, sheet 7

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: RET: A45A

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

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A large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in RET exon 11.

Oncology Letters

Lu, Fanqian F; Chen, Xiaohong X; Bai, Yunlong Y; Feng, Yaru Y; Wu, Jian J

Publication Date: 2017-09

Variant appearance in text: RET: A45A

PubMed Link: 28943896

Variant Present in the following documents:

• Main text
• ol-14-03-3552.pdf

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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: Ala45=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis.

Bmc Medical Genetics

Tou, Jinfa J; Wang, Li L; Liu, Li L; Wang, Ying Y; Zhong, Rong R; Duan, Shengyu S; Liu, Weiguang W; Xiong, Qixing Q; Gu, Qinglong Q; Yang, Hong H; Li, Hui H

Publication Date: 2011-02-25

Variant appearance in text: RET: A45A

PubMed Link: 21349203

Variant Present in the following documents:

• 1471-2350-12-32.pdf

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A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.

American Journal Of Human Genetics

Borrego, Salud S; Wright, Fred A FA; Fernández, Raquel M RM; Williams, Nita N; López-Alonso, Manuel M; Davuluri, Ramana R; Antiñolo, Guillermo G; Eng, Charis C

Publication Date: 2003-01

Variant appearance in text: RET: A45A

PubMed Link: 12474140

Variant Present in the following documents:

• Main text

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A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.

American Journal Of Human Genetics

Griseri, Paola P; Pesce, Barbara B; Patrone, Giovanna G; Osinga, Jan J; Puppo, Francesca F; Sancandi, Monica M; Hofstra, Robert R; Romeo, Giovanni G; Ravazzolo, Roberto R; Devoto, Marcella M; Ceccherini, Isabella I

Publication Date: 2002-10

Variant appearance in text: RET: A45A

PubMed Link: 12214285

Variant Present in the following documents:

• Main text

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Association of RET codon 691 polymorphism in radiation-induced human thyroid tumours with C-cell hyperplasia in peritumoural tissue.

British Journal Of Cancer

Bounacer, A A; Du Villard, J A JA; Wicker, R R; Caillou, B B; Schlumberger, M M; Sarasin, A A; Suárez, H G HG

Publication Date: 2002-06-17

Variant appearance in text: RET: A45A

PubMed Link: 12085189

Variant Present in the following documents:

• Main text

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RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.

Journal Of Medical Genetics

Borrego, S S; Ruiz, A A; Saez, M E ME; Gimm, O O; Gao, X X; López-Alonso, M M; Hernández, A A; Wright, F A FA; Antiñolo, G G; Eng, C C

Publication Date: 2000-08

Variant appearance in text: RET: A45A

PubMed Link: 10922382

Variant Present in the following documents:

• Main text

View BVdb publication page

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