Publications:

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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: ALDH3A2: 733G>A; D245N; rs72547568

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

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: ALDH3A2: 733G>A; rs72547568

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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Genotype and phenotype variability in Sjögren-Larsson syndrome.

Human Mutation

Weustenfeld, Maximilian M; Eidelpes, Reiner R; Schmuth, Matthias M; Rizzo, William B WB; Zschocke, Johannes J; Keller, Markus A MA

Publication Date: 2019-02

Variant appearance in text: SLS: 733G>A

PubMed Link: 30372562

Variant Present in the following documents:

• Main text
• HUMU-40-177.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SLS: D245N

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: ALDH3A2: D245N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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: rs72547568

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: rs72547568

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

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A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.

Nature Communications

Keller, Markus A MA; Zander, Ulrich U; Fuchs, Julian E JE; Kreutz, Christoph C; Watschinger, Katrin K; Mueller, Thomas T; Golderer, Georg G; Liedl, Klaus R KR; Ralser, Markus M; Kräutler, Bernhard B; Werner, Ernst R ER; Marquez, Jose A JA

Publication Date: 2014-07-22

Variant appearance in text: SLS: D245N

PubMed Link: 25047030

Variant Present in the following documents:

• Main text
• ncomms5439-s1.pdf
• ncomms5439.pdf

View BVdb publication page

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Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.

Molecular Genetics And Metabolism

Rizzo, William B WB

Publication Date: 2007-01

Variant appearance in text: SLS: 733G>A

PubMed Link: 16996289

Variant Present in the following documents:

• Main text

View BVdb publication page

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