Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf
Cochlear Implantation in Siblings With Refsum's Disease.
Stähr K et al.
The Annals of Otology, Rhinology, and Laryngology, 2017
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06Q-01A.domain
Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.
Shen H et al.
Plos One, 2013
23577066 (PubMed )
Supplement: pone.0059494.s008.pdf
Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis.
Zolotov D et al.
Journal of Clinical Apheresis, 2012
Structural and mechanistic studies on the peroxisomal oxygenase phytanoyl-CoA 2-hydroxylase (PhyH).
Schofield CJ et al.
Biochemical Society Transactions, 2007
Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.
McDonough MA et al.
The Journal of Biological Chemistry, 2005
Studies on the specificity of unprocessed and mature forms of phytanoyl-CoA 2-hydroxylase and mutation of the iron binding ligands.
Searls T et al.
Journal of Lipid Research, 2005
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
Jansen GA et al.
Human Mutation, 2004
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
Wierzbicki AS et al.
Journal of Neurochemistry, 2002
Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.
Mukherji M et al.
Human Molecular Genetics, 2001
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.
Jansen GA et al.
Human Molecular Genetics, 2000
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