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Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
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Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction
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- Journal Article
- A1
- open access
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis
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2023 Focused Update of the 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure : developed by the task force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC) with the special contribution of the Heart Failure Association (HFA) of the ESC
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- Miscellaneous
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Juggling offsets unlocks RNA-seq tools for fast scalable differential usage, aberrant splicing and expression analyses
(2023) -
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 -
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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- Journal Article
- A1
- open access
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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Integration of genomics and transcriptomics to identify DNAdamage defects in PID patients with a cancer predisposition
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Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum