A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay
2021 · Human Genetics and Genomics Advances · 11 citations
https://doi.org/10.1016/j.xhgg.2021.100072
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Chiara De Luca
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8
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Chiara De Luca is an academic researcher from University of L'Aquila. The author has contributed to research in topics: Genomics and Rare Diseases & RNA Research and Splicing & Genomic variations and chromosomal abnormalities. The author has an h-index of 8, co-authored 24 publications.
ORCID: 0000-0003-1587-3130Papers by this author
worksThe phenotypic and genotypic spectrum of individuals with mono‐ or biallelic <i>ANK3</i> variants
2024 · Clinical Genetics · 8 citations
https://doi.org/10.1111/cge.14587
Additional file 1: of Efficient RT-QuIC seeding activity for Îą-synuclein in olfactory mucosa samples of patients with Parkinsonâ s disease and multiple system atrophy
2019 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.9350753
Sinus of Valsalva Aneurysm Is a Major Feature of FLNA (Filamin A) Loss-of-Function Variants
2025 · JACC Case Reports · 0 citations
https://doi.org/10.1016/j.jaccas.2024.103022
Molecular spectrum of autosomal recessive osteogenesis imperfecta in 93 Italian children with bone fragility: a monocentric experience
2025 · Journal of Endocrinological Investigation · 0 citations
https://doi.org/10.1007/s40618-025-02736-9
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