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Carlo Rivolta

University of Lausanne
University of Leicester
University of Basel

196

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11200

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Immune deficiency, autoimmune disease and intellectual disability: a pleiotropic disorder caused by biallelic variants in the TPP2 gene

2021 Clinical Genetics
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CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels

2021 eLife
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Genetic analysis of consanguineous Pakistani families with congenital stationary night blindness.

2021 Ophthalmic Research
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A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.

2021
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c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1.

2021 Cornea
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Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.

2021 Scientific Reports
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c.‐61G>A in OVOL2 is a pathogenic variant in posterior polymorphous corneal dystrophy 1—a case report

2021 Acta Ophthalmologica
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Author response for "Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene"

2021
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Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants

2021 Genes
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NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.

2021 Human Genetics
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