Associated Papers
Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.
Brand F et al.
Acta Neuropathologica, 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
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Macular atrophy in JAG1-related Alagille syndrome: a case series.
Paez-Escamilla M et al.
Ophthalmic Genetics, 2022
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
Yohe S et al.
Molecular Genetics & Genomic Medicine, 2020
Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother.
Dubot P et al.
Jimd Reports, 2019
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge.
Kundu K et al.
Human Mutation, 2017
Cochlear Implantation in Siblings With Refsum's Disease.
Stähr K et al.
The Annals of Otology, Rhinology, and Laryngology, 2017
Ataxias with autosomal, X-chromosomal or maternal inheritance.
Finsterer J
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2009
Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition.
Finsterer J et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2008
Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa.
Finsterer J et al.
Journal of the Neurological Sciences, 2008
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
Jansen GA et al.
Human Mutation, 2004
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