Associated Papers
Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.
Yavas C et al.
Clinical Genetics, 2025
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1
The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.
Verbakel SK et al.
Molecular Genetics & Genomic Medicine, 2019
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
Chen X et al.
Journal of Translational Medicine, 2018
The genetic profile of Leber congenital amaurosis in an Australian cohort.
Thompson JA et al.
Molecular Genetics & Genomic Medicine, 2017
29178642 (PubMed )
Supplement: MGG3-5-652-s005.pdf
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
Ullah I et al.
Molecular Vision, 2016
Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.
Ajmal M et al.
Molecular Vision, 2012
A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.
Abbasi AH et al.
Molecular Vision, 2008
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
den Hollander AI et al.
Investigative Ophthalmology & Visual Science, 2007
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