Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia.
Hunt C et al.
Investigative Ophthalmology & Visual Science, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease.
Daich Varela M et al.
Investigative Ophthalmology & Visual Science, 2024
PENTOSAN POLYSULFATE SODIUM (ELMIRON) MACULOPATHY: A Genetic Perspective.
Kalaw FGP et al.
Retina (philadelphia, Pa.), 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Structural and mechanistic studies on the peroxisomal oxygenase phytanoyl-CoA 2-hydroxylase (PhyH).
Schofield CJ et al.
Biochemical Society Transactions, 2007
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
Jansen GA et al.
Human Mutation, 2004
A novel murine long-chain acyl-CoA synthetase expressed in brain participates in neuronal cell proliferation.
Kee HJ et al.
Biochemical and Biophysical Research Communications, 2003
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
Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene.
Chahal A et al.
Febs Letters, 1998
Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.
Jansen GA et al.
Journal of Inherited Metabolic Disease, 1998
Identification of PAHX, a Refsum disease gene.
Mihalik SJ et al.
Nature Genetics, 1997