selected publications
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Differential Effects of Biomimetic Thymine Dimers and Corresponding Photo-Adducts in Primary Human Keratinocytes and Fibroblasts.
Biomolecules.
2024
Academic Article
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Times cited: 1 - A Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family Report. Pediatric dermatology. 2024 Academic Article GET IT
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Systemic Photoprotection in Melanoma and Non-Melanoma Skin Cancer.
Biomolecules.
2023
Review
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Times cited: 35 -
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.
2023
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Times cited: 3 -
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.
Human molecular genetics.
2022
Academic Article
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Times cited: 7 -
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Human genetics.
2021
Academic Article
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Times cited: 7 -
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.
2019
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Times cited: 1 -
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Genes.
2019
Review
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Times cited: 36