Publications:

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: UGT1A1: 625C>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: UGT1A1: 625C>T; R209W; rs72551343

PubMed Link: 34621706

Variant Present in the following documents:

• Main text
• tcp-29-135-s001.xls, sheet 1
• tcp-29-135.pdf

View BVdb publication page

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UGT1A1-related Bilirubin Encephalopathy/Kernicterus in Adults.

Journal Of Clinical And Translational Hepatology

Bai, Jie J; Li, Lu L; Liu, Hui H; Liu, Shuang S; Bai, Li L; Song, Wenyan W; Chen, Yu Y; Zheng, Sujun S; Duan, Zhongping Z

Publication Date: 2021-04-28

Variant appearance in text: UGT1A1: R209W

PubMed Link: 34007799

Variant Present in the following documents:

• Main text
• JCTH-9-180.pdf

View BVdb publication page

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Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: UGT1A1: 625C>T; R209W; rs72551343

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: UGT1A1: 625C>T; Arg209Trp; rs72551343

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Analysis of the UGT1A1 Genotype in Hyperbilirubinemia Patients: Differences in Allele Frequency and Distribution.

Biomed Research International

Mi, Xiao-Xiao XX; Yan, Jian J; Ma, Xiao-Jie XJ; Zhu, Ge-Li GL; Gao, Yi-Dan YD; Yang, Wen-Jun WJ; Kong, Xiao-Wen XW; Chen, Gong-Ying GY; Shi, Jun-Ping JP; Gong, Ling L

Publication Date: 2019

Variant appearance in text: UGT1A1: 625C>T; Arg209Trp; rs72551343

PubMed Link: 31467903

Variant Present in the following documents:

• Main text
• BMRI2019-6272174.pdf

View BVdb publication page

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UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation.

Medicine

Abuduxikuer, Kuerbanjiang K; Fang, Ling-Juan LJ; Li, Li-Ting LT; Gong, Jing-Yu JY; Wang, Jian-She JS

Publication Date: 2018-12

Variant appearance in text: UGT1A1: 625C>T; R209W

PubMed Link: 30544479

Variant Present in the following documents:

• Main text
• medi-97-e13576.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs72551343

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia.

Internal Medicine (Tokyo, Japan)

Aiso, Mitsuhiko M; Yagi, Minami M; Tanaka, Atsushi A; Miura, Kotaro K; Miura, Ryo R; Arizumi, Toshihiko T; Takamori, Yoriyuki Y; Nakahara, Sayuri S; Maruo, Yoshihiro Y; Takikawa, Hajime H

Publication Date: 2017

Variant appearance in text: UGT1A1: R209W

PubMed Link: 28321066

Variant Present in the following documents:

• Main text
• 1349-7235-56-0661.pdf

View BVdb publication page

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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: UGT1A1: 625C>T; R209W; rs72551343

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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: UGT1A1: R209W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.

Plos One

Li, Lufeng L; Deng, Guohong G; Tang, Yi Y; Mao, Qing Q

Publication Date: 2015

Variant appearance in text: UGT1A1: R209W

PubMed Link: 25993113

Variant Present in the following documents:

• Main text
• pone.0126263.pdf

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: rs72551343

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.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: rs72551343

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

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Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.

Genetics Research International

Rahim, Fakher F; Galehdari, Hamid H; Mohammadi-Asl, Javad J; Saki, Najmaldin N

Publication Date: 2013

Variant appearance in text: UGT1A1: R209W; rs72551343

PubMed Link: 23997956

Variant Present in the following documents:

• Main text
• GRI2013-546909.pdf

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Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations.

International Journal Of Molecular Epidemiology And Genetics

Galehdari, Hamid H; Saki, Najmaldin N; Mohammadi-Asl, Javad J; Rahim, Fakher F

Publication Date: 2013

Variant appearance in text: UGT1A1: R209W; rs72551343

PubMed Link: 23875061

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.

The Aaps Journal

Di, Yuan Ming YM; Chan, Eli E; Wei, Ming Qian MQ; Liu, Jun-Ping JP; Zhou, Shu-Feng SF

Publication Date: 2009-09

Variant appearance in text: UGT1A1: Arg209Trp

PubMed Link: 19572200

Variant Present in the following documents:

• Main text

View BVdb publication page

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Adaptive evolution of multiple-variable exons and structural diversity of drug-metabolizing enzymes.

Bmc Evolutionary Biology

Li, Can C; Wu, Qiang Q

Publication Date: 2007-05-02

Variant appearance in text: UGT1A1: R209W

PubMed Link: 17475008

Variant Present in the following documents:

• 1471-2148-7-69.pdf

View BVdb publication page

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Gilbert's syndrome: High frequency of the (TA)7 TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 gene.

World Journal Of Gastroenterology

Farheen, Shabana S; Sengupta, Sanghamitra S; Santra, Amal A; Pal, Suparna S; Dhali, Gopal Krishna GK; Chakravorty, Meenakshi M; Majumder, Partha P PP; Chowdhury, Abhijit A

Publication Date: 2006-04-14

Variant appearance in text: UGT1A1: R209W

PubMed Link: 16610035

Variant Present in the following documents:

• Main text

View BVdb publication page

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