Fragile X syndrome: a review of clinical and molecular diagnoses
2017 · The Italian Journal of Pediatrics/Italian journal of pediatrics · 160 citations
https://doi.org/10.1186/s13052-017-0355-y
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Claudia Ciaccio
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15
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22
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Claudia Ciaccio is an academic researcher. The author has contributed to research in topics: Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders & Genomic variations and chromosomal abnormalities. The author has an h-index of 15, co-authored 51 publications.
ORCID: 0000-0002-4100-7028Papers by this author
worksPEDIA: prioritization of exome data by image analysis
2019 · Genetics in Medicine · 86 citations
https://doi.org/10.1038/s41436-019-0566-2
Further delineation of <i>FKBP14</i>‐related Ehlers–Danlos syndrome: A patient with early vascular complications and non‐progressive kyphoscoliosis, and literature review
2016 · American Journal of Medical Genetics Part A · 19 citations
https://doi.org/10.1002/ajmg.a.37728
Phenotypic spectrum of the recurrent <i>TRPM3</i> p.(<scp>Val837Met</scp>) substitution in seven individuals with global developmental delay and hypotonia
2022 · American Journal of Medical Genetics Part A · 19 citations
https://doi.org/10.1002/ajmg.a.62673
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
2025 · Human Genetics · 3 citations
https://doi.org/10.1007/s00439-025-02733-1
Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases
2024 · The Cerebellum · 2 citations
https://doi.org/10.1007/s12311-024-01733-7
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