Publications:

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Association between vascular ultrasound features and DNA sequencing in breast cancer: a preliminary study.

Discover. Oncology

Han, Mi-Ryung MR; Park, Ah Young AY; Seo, Bo Kyoung BK; Bae, Min Sun MS; Kim, Jung Sun JS; Son, Gil Soo GS; Lee, Hye Yoon HY; Chang, Young Woo YW; Cho, Kyu Ran KR; Song, Sung Eun SE; Woo, Ok Hee OH; Ju, Hye-Yeon HY; Oh, Hyunseung H

Publication Date: 2023-04-30

Variant appearance in text: rs1799939

PubMed Link: 37120792

Variant Present in the following documents:

• Main text
• 12672_2023_Article_657.pdf

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs1799939

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: rs1799939

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study.

Genes

Nassar, Auhood A; Zekri, Abdel-Rahman N AN; Kamel, Mahmoud M MM; Elberry, Mostafa H MH; Lotfy, Mai M MM; Seadawy, Mohamed G MG; Hassan, Zeinab K ZK; Soliman, Hany K HK; Lymona, Ahmed M AM; Youssef, Amira Salah El-Din ASE

Publication Date: 2022-12-29

Variant appearance in text: rs1799939

PubMed Link: 36672847

Variant Present in the following documents:

• genes-14-00106.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs1799939

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Stuttering priapism in a pediatric patient with pheochromocytoma-induced thrombocytosis.

Urology Annals

Boonchai, Sarayuth S; Sangkhathat, Surasak S; Laochareonsuk, Wison W; Attawettayanon, Worapat W

Publication Date: 2022

Variant appearance in text: rs1799939

PubMed Link: 36117795

Variant Present in the following documents:

• Main text
• UA-14-283.pdf

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: RET: G691R

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Emerging Biomarkers in Thyroid Practice and Research.

Cancers

Agarwal, Shipra S; Bychkov, Andrey A; Jung, Chan-Kwon CK

Publication Date: 2021-12-31

Variant appearance in text: rs1799939

PubMed Link: 35008368

Variant Present in the following documents:

• Main text
• cancers-14-00204.pdf

View BVdb publication page

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Emerging Biomarkers in Thyroid Practice and Research.

Cancers

Agarwal, Shipra S; Bychkov, Andrey A; Jung, Chan-Kwon CK

Publication Date: 2021-12-31

Variant appearance in text: rs1799939

PubMed Link: 35008368

Variant Present in the following documents:

• Main text
• cancers-14-00204.pdf

View BVdb publication page

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Unique somatic variants in DNA from urine exosomes of individuals with bladder cancer.

Molecular Therapy. Methods & Clinical Development

Zhou, Xunian X; Kurywchak, Paul P; Wolf-Dennen, Kerri K; Che, Sara P Y SPY; Sulakhe, Dinanath D; D'Souza, Mark M; Xie, Bingqing B; Maltsev, Natalia N; Gilliam, T Conrad TC; Wu, Chia-Chin CC; McAndrews, Kathleen M KM; LeBleu, Valerie S VS; McConkey, David J DJ; Volpert, Olga V OV; Pretzsch, Shanna M SM; Czerniak, Bogdan A BA; Dinney, Colin P CP; Kalluri, Raghu R

Publication Date: 2021-09-10

Variant appearance in text: rs1799939

PubMed Link: 34514028

Variant Present in the following documents:

• mmc3.pdf

View BVdb publication page

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Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: RET: G691R

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 22

View BVdb publication page

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Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.

Therapeutic Advances In Medical Oncology

Yang, Hong H; Liu, Zhimin Z; Wang, Yufang Y; Li, Jun J; Li, Ruiqian R; Wang, Qilin Q; Hu, Chen C; Jiang, Haiyang H; Wu, Hongyi H; Song, Lele L; Bai, Yu Y

Publication Date: 2020

Variant appearance in text: rs1799939

PubMed Link: 33240400

Variant Present in the following documents:

• Main text

View BVdb publication page

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High-Throughput Sequencing of Gastric Cancer Patients: Unravelling Genetic Predispositions Towards an Early-Onset Subtype.

Cancers

Machlowska, Julita J; Kapusta, Przemysław P; Baj, Jacek J; Morsink, Folkert H M FHM; Wołkow, Paweł P; Maciejewski, Ryszard R; Offerhaus, G Johan A GJA; Sitarz, Robert R

Publication Date: 2020-07-21

Variant appearance in text: rs1799939

PubMed Link: 32708070

Variant Present in the following documents:

• Main text
• cancers-12-01981.pdf

View BVdb publication page

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Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

Journal Of Medical Genetics

Codina-Sola, Marta M; Costa-Roger, Mar M; Pérez-García, Debora D; Flores, Raquel R; Palacios-Verdú, Maria Gabriela MG; Cusco, Ivon I; Pérez-Jurado, Luis Alberto LA

Publication Date: 2019-12

Variant appearance in text: rs1799939

PubMed Link: 31413120

Variant Present in the following documents:

• jmedgenet-2019-106080supp001.pdf

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs1799939

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13

View BVdb publication page

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Development of an AmpliSeqTM Panel for Next-Generation Sequencing of a Set of Genetic Predictors of Persisting Pain.

Frontiers In Pharmacology

Kringel, Dario D; Kaunisto, Mari A MA; Lippmann, Catharina C; Kalso, Eija E; Lötsch, Jörn J

Publication Date: 2018

Variant appearance in text: rs1799939

PubMed Link: 30283335

Variant Present in the following documents:

• Main text
• fphar-09-01008.pdf

View BVdb publication page

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Associations between RET tagSNPs and their haplotypes and susceptibility, clinical severity, and thyroid function in patients with differentiated thyroid cancer.

Plos One

He, Caiyun C; Ma, Jiangjun J; Jiang, Yongle Y; Su, Xuan X; Zhang, Xiao X; Chen, Weichao W; Ye, Zulu Z; Deng, Tiancheng T; Deng, Wenze W; Yang, Ankui A

Publication Date: 2017

Variant appearance in text: rs1799939

PubMed Link: 29131865

Variant Present in the following documents:

• Main text
• pone.0187968.pdf

View BVdb publication page

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The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum.

Bmc Medical Genomics

Gerhard, Glenn S GS; Jin, Qunyan Q; Paynton, Barbara V BV; Popoff, Steven N SN

Publication Date: 2016-10-06

Variant appearance in text: rs1799939

PubMed Link: 27716216

Variant Present in the following documents:

• 12920_2016_223_MOESM1_ESM.pdf

View BVdb publication page

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Genetics of Vesicoureteral Reflux.

Current Genomics

Nino, F F; Ilari, M M; Noviello, C C; Santoro, L L; Rätsch, I M IM; Martino, A A; Cobellis, G G

Publication Date: 2016-02

Variant appearance in text: rs1799939

PubMed Link: 27013925

Variant Present in the following documents:

• CG-17-70.pdf

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: rs1799939

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2

View BVdb publication page

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Selective activity over a constitutively active RET-variant of the oral multikinase inhibitor dovitinib: results of the CNIO-BR002 phase I-trial.

Molecular Oncology

Quintela-Fandino, Miguel M; Bueno, Maria J MJ; Lombardia, Luis L; Gil, Marta M; Gonzalez-Martin, Antonio A; Marquez, Raul R; Bratos, Raquel R; Guerra, Juan J; Tan, Eugene E; Lopez, Antonio A; Colomer, Ramon R; Salazar, Ramon R

Publication Date: 2014-12

Variant appearance in text: rs1799939

PubMed Link: 25103625

Variant Present in the following documents:

• Main text

View BVdb publication page

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Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients.

Plos One

Rusmini, Marta M; Griseri, Paola P; Lantieri, Francesca F; Matera, Ivana I; Hudspeth, Kelly L KL; Roberto, Alessandra A; Mikulak, Joanna J; Avanzini, Stefano S; Rossi, Valentina V; Mattioli, Girolamo G; Jasonni, Vincenzo V; Ravazzolo, Roberto R; Pavan, William J WJ; Pini-Prato, Alessio A; Ceccherini, Isabella I; Mavilio, Domenico D

Publication Date: 2013

Variant appearance in text: rs1799939

PubMed Link: 23527089

Variant Present in the following documents:

• Main text
• pone.0059066.pdf

View BVdb publication page

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Pharmacogenetic biomarkers for the prediction of response to antiangiogenic treatment.

The Lancet. Oncology

Schneider, Bryan P BP; Shen, Fei F; Miller, Kathy D KD

Publication Date: 2012-10

Variant appearance in text: rs1799939

PubMed Link: 23026828

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of functional genetic variation in exome sequence analysis.

Bmc Proceedings

Jaffe, Andrew A; Wojcik, Genevieve G; Chu, Audrey A; Golozar, Asieh A; Maroo, Ankit A; Duggal, Priya P; Klein, Alison P AP

Publication Date: 2011-11-29

Variant appearance in text: rs1799939

PubMed Link: 22373437

Variant Present in the following documents:

• 1753-6561-5-S9-S13.pdf

View BVdb publication page

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Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.

Plos One

Cornes, Belinda K BK; Tang, Clara S CS; Leon, Thomas Y Y TY; Hui, Kenneth J W S KJ; So, Man-Ting MT; Miao, Xiaoping X; Cherny, Stacey S SS; Sham, Pak C PC; Tam, Paul K H PK; Garcia-Barcelo, Maria-Merce MM

Publication Date: 2010-06-02

Variant appearance in text: rs1799939

PubMed Link: 20532249

Variant Present in the following documents:

• Main text
• pone.0010918.pdf

View BVdb publication page

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A common RET variant is associated with reduced newborn kidney size and function.

Journal Of The American Society Of Nephrology : Jasn

Zhang, Zhao Z; Quinlan, Jackie J; Hoy, Wendy W; Hughson, Michael D MD; Lemire, Mathieu M; Hudson, Thomas T; Hueber, Pierre-Alain PA; Benjamin, Alice A; Roy, Anne A; Pascuet, Elena E; Goodyer, Meigan M; Raju, Chandhana C; Houghton, Fiona F; Bertram, John J; Goodyer, Paul P

Publication Date: 2008-10

Variant appearance in text: rs1799939

PubMed Link: 18820179

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs1799939

PubMed Link: 18547414

Variant Present in the following documents:

• Main text
• 1755-8794-1-24.pdf

View BVdb publication page

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