Publications:

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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: rs769224

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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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: COMT: P199P

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: rs769224

PubMed Link: 35802478

Variant Present in the following documents:

• noac171_suppl_suplementary_table_s7.xlsx, sheet 1
• noac171_suppl_suplementary_table_s1.xlsx, sheet 1
• noac171_suppl_suplementary_table_ss9.xls, sheet 1

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: COMT: P199P

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Effect of Catechol-O-Methyltransferase Genotype Polymorphism on Neurological and Psychiatric Disorders: Progressing Towards Personalized Medicine.

Cureus

Srivastava, Kosha K; Ochuba, Olive O; Sandhu, Jasmine K JK; Alkayyali, Tasnim T; Ruo, Sheila W SW; Waqar, Ahsan A; Jain, Ashish A; Joseph, Christine C; Poudel, Sujan S

Publication Date: 2021-09

Variant appearance in text: rs769224

PubMed Link: 34725583

Variant Present in the following documents:

• Main text
• cureus-0013-00000018311.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: COMT: 597G>A; P199P; rs769224

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: rs769224

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Genetic variations in catechol-O-methyltransferase gene are associated with levodopa response variability in Chinese patients with Parkinson's disease.

Scientific Reports

Zhao, Cuiping C; Wang, Yihua Y; Zhang, Bin B; Yue, Yaoxian Y; Zhang, Jianyuan J

Publication Date: 2020-06-12

Variant appearance in text: COMT: Pro199Pro; rs769224

PubMed Link: 32533012

Variant Present in the following documents:

• Main text
• 41598_2020_Article_65332.pdf

View BVdb publication page

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FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.

Brain And Behavior

Zhou, Binbin B; Wang, Huan H; Cai, Yu Y; Wen, Han H; Wang, Lulu L; Zhu, Min M; Chen, Yunqing Y; Yu, Yanyan Y; Lu, Xi X; Zhou, Meihong M; Fang, Pu P; Li, Xiaobing X; Hong, Daojun D

Publication Date: 2020-06

Variant appearance in text: COMT: 597G>A; P199P; rs769224

PubMed Link: 32307925

Variant Present in the following documents:

• BRB3-10-e01625-s001.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: COMT: 597G>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: rs769224

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Childhood cerebellar tumours mirror conserved fetal transcriptional programs.

Nature

Vladoiu, Maria C MC; El-Hamamy, Ibrahim I; Donovan, Laura K LK; Farooq, Hamza H; Holgado, Borja L BL; Sundaravadanam, Yogi Y; Ramaswamy, Vijay V; Hendrikse, Liam D LD; Kumar, Sachin S; Mack, Stephen C SC; Lee, John J Y JJY; Fong, Vernon V; Juraschka, Kyle K; Przelicki, David D; Michealraj, Antony A; Skowron, Patryk P; Luu, Betty B; Suzuki, Hiromichi H; Morrissy, A Sorana AS; Cavalli, Florence M G FMG; Garzia, Livia L; Daniels, Craig C; Wu, Xiaochong X; Qazi, Maleeha A MA; Singh, Sheila K SK; Chan, Jennifer A JA; Marra, Marco A MA; Malkin, David D; Dirks, Peter P; Heisler, Lawrence L; Pugh, Trevor T; Ng, Karen K; Notta, Faiyaz F; Thompson, Eric M EM; Kleinman, Claudia L CL; Joyner, Alexandra L AL; Jabado, Nada N; Stein, Lincoln L; Taylor, Michael D MD

Publication Date: 2019-08

Variant appearance in text: rs769224

PubMed Link: 31043743

Variant Present in the following documents:

• NIHMS1525286-supplement-Sup_Table_7.xlsx, sheet 6

View BVdb publication page

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Associations Between Gene Polymorphisms and Psychological Stress in the Guangxi Minority Region of China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Lin, Xiujin X; Liu, Jianbo J; Fu, Peipei P; Zeng, Xuan X; Qin, Jian J; Tang, Zhenghua Z; Wu, Junduan J

Publication Date: 2018-09-22

Variant appearance in text: rs769224

PubMed Link: 30242809

Variant Present in the following documents:

• Main text
• medscimonit-24-6680.pdf

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs769224

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Novel human genome variants associated with alcohol use disorders identified in a Lithuanian cohort.

Acta Medica Lituanica

Baronas, Karolis K; Rančelis, Tautvydas T; Pranculis, Aidas A; Domarkienė, Ingrida I; Ambrozaitytė, Laima L; Kučinskas, Vaidutis V

Publication Date: 2018

Variant appearance in text: COMT: 597G>A; rs769224

PubMed Link: 29928152

Variant Present in the following documents:

• Main text
• aml-25-007.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs769224

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs769224

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: COMT: P199P; rs769224

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs769224

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Association of COMT and COMT-DRD2 interaction with creative potential.

Frontiers In Human Neuroscience

Zhang, Shun S; Zhang, Muzi M; Zhang, Jinghuan J

Publication Date: 2014

Variant appearance in text: rs769224

PubMed Link: 24782743

Variant Present in the following documents:

• Main text
• fnhum-08-00216.pdf

View BVdb publication page

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Mercury promotes catecholamines which potentiate mercurial autoimmunity and vasodilation: implications for inositol 1,4,5-triphosphate 3-kinase C susceptibility in kawasaki syndrome.

Korean Circulation Journal

Yeter, Deniz D; Deth, Richard R; Kuo, Ho-Chang HC

Publication Date: 2013-09

Variant appearance in text: rs769224

PubMed Link: 24174958

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of the catechol-o-methyltransferase gene polymorphisms with Korean autism spectrum disorders.

Journal Of Korean Medical Science

Yoo, Hee Jeong HJ; Cho, In Hee IH; Park, Mira M; Yang, So Young SY; Kim, Soon Ae SA

Publication Date: 2013-09

Variant appearance in text: rs769224

PubMed Link: 24015051

Variant Present in the following documents:

• Main text
• jkms-28-1403.pdf

View BVdb publication page

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Catechol O-methyltransferase pharmacogenomics and selective serotonin reuptake inhibitor response.

The Pharmacogenomics Journal

Ji, Y Y; Biernacka, J J; Snyder, K K; Drews, M M; Pelleymounter, L L LL; Colby, C C; Wang, L L; Mrazek, D A DA; Weinshilboum, R M RM

Publication Date: 2012-02

Variant appearance in text: rs769224

PubMed Link: 20877297

Variant Present in the following documents:

• Main text

View BVdb publication page

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Low enzymatic activity haplotypes of the human catechol-O-methyltransferase gene: enrichment for marker SNPs.

Plos One

Nackley, Andrea G AG; Shabalina, Svetlana A SA; Lambert, Jason E JE; Conrad, Mathew S MS; Gibson, Dustin G DG; Spiridonov, Alexey N AN; Satterfield, Sarah K SK; Diatchenko, Luda L

Publication Date: 2009

Variant appearance in text: rs769224

PubMed Link: 19365560

Variant Present in the following documents:

• Main text
• pone.0005237.pdf

View BVdb publication page

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The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase.

Molecular Psychiatry

Mukherjee, N N; Kidd, K K KK; Pakstis, A J AJ; Speed, W C WC; Li, H H; Tarnok, Z Z; Barta, C C; Kajuna, S L B SL; Kidd, J R JR

Publication Date: 2010-02

Variant appearance in text: rs769224

PubMed Link: 18574484

Variant Present in the following documents:

• Main text

View BVdb publication page

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