Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf
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
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.
Wang J et al.
American Journal of Ophthalmology, 2023
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
35314707 (PubMed )
Supplement: 41525_2022_287_MOESM3_ESM.xlsx › SNV
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Vandervore LV et al.
Brain : a Journal of Neurology, 2019
30879067 (PubMed )
Supplement: awz045_supp.zip › awz045-suppl_data › awz045_Supplementary_Material_and_Methods.pdf
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Tiwari A et al.
Scientific Reports, 2016
27353947 (PubMed )
Supplement: srep28755-s1.pdf
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
Rachel RA et al.
The Journal of Clinical Investigation, 2012
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