Publications:

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Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: RET: 1597G>A; G533S

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s004.xlsx, sheet 2

View BVdb publication page

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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: RET: 1597G>A; rs75873440

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

View BVdb publication page

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Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract.

Bmc Nephrology

Narikot, Ambili A; Pardeshi, Varsha Chhotusing VC; Shubha, A M AM; Iyengar, Arpana A; Vasudevan, Anil A

Publication Date: 2022-01-03

Variant appearance in text: RET: 1597G>A; Gly533Ser; rs75873440

PubMed Link: 34979951

Variant Present in the following documents:

• Main text
• 12882_2021_Article_2628.pdf
• 12882_2021_2628_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract.

Bmc Nephrology

Narikot, Ambili A; Pardeshi, Varsha Chhotusing VC; Shubha, A M AM; Iyengar, Arpana A; Vasudevan, Anil A

Publication Date: 2022-01-03

Variant appearance in text: RET: 1597G>A; Gly533Ser; rs75873440

PubMed Link: 34979951

Variant Present in the following documents:

• Main text
• 12882_2021_Article_2628.pdf
• 12882_2021_2628_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology

Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L

Publication Date: 2021

Variant appearance in text: RET: 1597G>A; G533S

PubMed Link: 34858840

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: RET: G533S; rs75873440

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia.

Hormones & Cancer

Khairi, Shafaq S; Osborne, Jenae J; Jacobs, Michelle F MF; Clines, Gregory T GT; Miller, Barbra S BS; Hughes, David T DT; Else, Tobias T

Publication Date: 2020-10

Variant appearance in text: RET: 1597G>A; Gly533Ser

PubMed Link: 32761341

Variant Present in the following documents:

• Main text

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: RET: 1597G>A; Gly533Ser; rs75873440

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: RET: 1597G>A; Gly533Ser; rs75873440

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications

Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W

Publication Date: 2019-11-07

Variant appearance in text: RET: 1597G>A; G533S

PubMed Link: 31700061

Variant Present in the following documents:

• 41467_2019_12846_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr

Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2019-02-08

Variant appearance in text: RET: G533S; rs75873440

PubMed Link: 30736836

Variant Present in the following documents:

• 13058_2019_1102_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia.

Oncotarget

de Smith, Adam J AJ; Ojha, Juhi J; Francis, Stephen S SS; Sanders, Erica E; Endicott, Alyson A AA; Hansen, Helen M HM; Smirnov, Ivan I; Termuhlen, Amanda M AM; Walsh, Kyle M KM; Metayer, Catherine C; Wiemels, Joseph L JL

Publication Date: 2016-11-08

Variant appearance in text: RET: Gly533Ser

PubMed Link: 27683039

Variant Present in the following documents:

• oncotarget-07-72733-s003.xlsx, sheet 1

View BVdb publication page

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RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.

European Journal Of Human Genetics : Ejhg

Widowati, Titis T; Melhem, Shamiram S; Patria, Suryono Y SY; de Graaf, Bianca M BM; Sinke, Richard J RJ; Viel, Martijn M; Dijkhuis, Jos J; Sadewa, Ahmad H AH; Purwohardjono, Rochadi R; Soenarto, Yati Y; Hofstra, Robert Mw RM; Sribudiani, Yunia Y

Publication Date: 2016-06

Variant appearance in text: RET: 1597G>A

PubMed Link: 26395553

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.

Plos One

Crockett, David K DK; Piccolo, Stephen R SR; Ridge, Perry G PG; Margraf, Rebecca L RL; Lyon, Elaine E; Williams, Marc S MS; Mitchell, Joyce A JA

Publication Date: 2011-03-30

Variant appearance in text: RET: G533S

PubMed Link: 21479187

Variant Present in the following documents:

• pone.0018380.pdf

View BVdb publication page

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