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A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing

artículo científico publicado en 2023

A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome

artículo científico publicado en 2022

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

scientific article published on 23 April 2019

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

artículo científico publicado en 2022

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

artículo científico publicado en 2022

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

artículo científico publicado en 2022

Fast and highly sensitive full-length single-cell RNA sequencing using FLASH-seq ⬇️

artículo científico publicado en 2022

Herpes simplex encephalitis in adult patients with MASP-2 deficiency

artículo científico publicado en 2019

In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening

artículo científico publicado en 2023

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

artículo científico publicado en 2022

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder

artículo científico publicado en 2022

New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV

artículo científico publicado en 2022

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

artículo científico publicado en 2023

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

scientific article published on 02 July 2019

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis

c.-61G>A in OVOL2 is a Pathogenic 5′ Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1

artículo científico publicado en 2021

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