Associated Papers
Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome.
McEntee KE et al.
Biorxiv : the Preprint Server for Biology, 2025
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Weisschuh N et al.
Journal of Medical Genetics, 2024
Alu RNA fold links splicing with signal recognition particle proteins.
Borovská I et al.
Nucleic Acids Research, 2023
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.
Nasser F et al.
Genes, 2022
35886001 (PubMed )
Supplement: genes-13-01218-s001.zip › Supplementary_Tables_S1-S3.pdf
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
35052368 (PubMed )
Supplement: genes-13-00027-s001.zip › genes-1495226-supplementary.pdf
Sequential genetic testing of living-related donors for inherited renal disease to promote informed choice and enhance safety of living donation.
Thomas CP et al.
Transplant International : Official Journal of the European Society for Organ Transplantation, 2021
Senior-Løken syndrome and intracranial hypertension.
Tay SA et al.
Ophthalmic Genetics, 2020
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.
Schaefer E et al.
Molecular Syndromology, 2011
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
Otto EA et al.
Nature Genetics, 2010
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