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Virginie G. Peter

University of Lausanne

16

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

2021 Scientific Reports
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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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Genomic and transcriptomic landscape of conjunctival melanoma.

2020 PLOS Genetics
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Exploring the genetic landscape of inherited retinal diseases in North-Western Pakistan reveals a high degree of autozygosity and prevalent founder mutations

2020 Investigative Ophthalmology & Visual Science
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New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.

2020 Human Mutation
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Genetic Testing Identifies Known and Unknown Mutations in Iranian Families with Hereditary Retinal Diseases

2020 Investigative Ophthalmology & Visual Science
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A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

2019 Ophthalmic Genetics
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The Liberfarb syndrome, a multisystem disorder including early-onset retinal degeneration, is caused by a founder mutation in the PISD gene in patients from Portugal, Brazil, and the Azores islands

2019 Investigative Ophthalmology & Visual Science
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