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- 0000-0001-6636-5537
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- Journal Article
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- open access
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
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- Journal Article
- open access
Deciphering the genetic architecture of inherited retinal diseases in the Iranian population by integrated exome sequencing
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Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases
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A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease
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Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases
(2023) -
- Journal Article
- A1
- open access
Compendium of clinical variant classification for 2,246 unique ABCA4 variants to clarify variant pathogenicity in Stargardt disease using a modified ACMG/AMP framework
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- Journal Article
- A1
- open access
Central nervous system manifestations of LRBA deficiency : case report of two siblings and literature review
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- Journal Article
- A1
- open access
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
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- Journal Article
- A1
- open access
GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141
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Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.45-45