Publications:

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: ALDH3A2: 682C>T; R228C; rs72547566

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_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: ALDH3A2: 682C>T; R228C; rs72547566

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 prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ALDH3A2: 682C>T; Arg228Cys; rs72547566

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A Fifteen-Gene Classifier to Predict Neoadjuvant Chemotherapy Responses in Patients with Stage IB to IIB Squamous Cervical Cancer.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Tian, Xun X; Wang, Xin X; Cui, Zifeng Z; Liu, Jia J; Huang, Xiaoyuan X; Shi, Caixia C; Zhang, Min M; Liu, Ting T; Du, Xiaofang X; Li, Rui R; Huang, Lei L; Gong, Danni D; Tian, Rui R; Cao, Chen C; Jin, Ping P; Zeng, Zhen Z; Pan, Guangxin G; Xia, Meng M; Zhang, Hongfeng H; Luo, Bo B; Xie, Yonghui Y; Li, Xiaoming X; Li, Tianye T; Wu, Jun J; Zhang, Qinghua Q; Chen, Gang G; Hu, Zheng Z

Publication Date: 2021-05

Variant appearance in text: ALDH3A2: R228C

PubMed Link: 34026427

Variant Present in the following documents:

• ADVS-8-2001978-s004.xlsx, sheet 4

View BVdb publication page

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Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum.

Jimd Reports

Staps, Pippa P; van Gaalen, Judith J; van Domburg, Peter P; Steijlen, Peter M PM; Ferdinandusse, Sacha S; den Heijer, Tom T; Seyger, Marieke M B MMB; Theelen, Thomas T; Willemsen, Michèl A A P MAAP

Publication Date: 2020-05

Variant appearance in text: ALDH3A2: 682C>T

PubMed Link: 32395410

Variant Present in the following documents:

• Main text
• JMD2-53-61.pdf

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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: 682C>T

PubMed Link: 30372562

Variant Present in the following documents:

• Main text
• HUMU-40-177.pdf

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: ALDH3A2: R228C; rs72547566

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: ALDH3A2: R228C; rs72547566

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8
• srep46105-s2.xls, sheet 6

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: R228C; rs72547566

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: R228C

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: rs72547566

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: rs72547566

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: R228C

PubMed Link: 25047030

Variant Present in the following documents:

• ncomms5439-s1.pdf
• ncomms5439.pdf

View BVdb publication page

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Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.

Journal Of Child Neurology

Davis, Kathleen K; Holden, Kenton R KR; S'Aulis, Dana D; Amador, Claudia C; Matheus, M Gisele MG; Rizzo, William B WB

Publication Date: 2013-10

Variant appearance in text: ALDH3A2: 682C>T

PubMed Link: 23034980

Variant Present in the following documents:

• Main text

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: 682C>T

PubMed Link: 16996289

Variant Present in the following documents:

• Main text

View BVdb publication page

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