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Carlo Santaniello

Observed names: C. Santaniello, Santaniello C, Santaniello, Carlo
ORCID: 0000-0002-5342-913X
Observed ORCID: 0000-0002-5342-913X
OpenAlex ID: A5055283559
Rare ATG7 genetic variants predispose patients to severe fatty liver disease
2022 · Guido A. Baselli, Oveis Jamialahmadi, et al. · Journal of Hepatology · 100
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(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome
2020 · Laura Fontana, Maria F. Bedeschi, et al. · Molecular Genetics & Genomic Medicine · 15
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Extensive Placental Methylation Profiling in Normal Pregnancies
2021 · Ornella Rondinone, Alessio Murgia, et al. · International Journal of Molecular Sciences · 14
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A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report
2021 · Giada Moresco, Jole Costanza, et al. · The Italian Journal of Pediatrics/Italian journal of pediatrics · 13
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Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly
2020 · Francesca Marta Elli, Deborah Mattinzoli, et al. · Journal of Bone and Mineral Research · 9
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Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology
2022 · Giada Moresco, Ornella Rondinone, et al. · Genes & Genomics · 4
Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing
2024 · Giada Moresco, Maria Francesca Bedeschi, et al. · Genes · 3
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Characterization of a New Variant in ARHGAP31 Probably Involved in Adams–Oliver Syndrome in a Family with a Variable Phenotypic Spectrum
2024 · Carlo Santaniello, Alice Faversani, et al. · Genes · 3
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Whole exome sequencing for the diagnosis of rare genetic conditions in patients with unexplained liver disease and complex clinical presentation
2021 · S. Pelusi, F. Malvestiti, et al. · Digestive and Liver Disease · 1
Case report: Deciphering the clinical significance of a novel partial BRCA1 exon 10 duplication in a patient with triple-negative breast cancer
2025 · Alice Faversani, Debora Manuelli, et al. · Frontiers in Oncology
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Rare ATG7 genetic variants predispose patients to severe fatty liver disease
2022 · Guido A. Baselli, Oveis Jamialahmadi, et al. · Newcastle University ePrints (Newcastle Univesity)
Correction: Rondinone et al. Extensive Placental Methylation Profiling in Normal Pregnancies. Int. J. Mol. Sci. 2021, 22, 2136
2022 · Ornella Rondinone, Alessio Murgia, et al. · International Journal of Molecular Sciences
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Author response for "Novel pathogenetic variants in PTHLH and TRPS1 genes causing syndromic brachydactyly"
2021 · Francesca Marta Elli, Deborah Mattinzoli, et al. · Publons reviews and discussion
Author response for "Novel pathogenetic variants in PTHLH and TRPS1 genes causing syndromic brachydactyly"
2021 · Francesca Marta Elli, Deborah Mattinzoli, et al. · Publons reviews and discussion
Author response for "Novel pathogenetic variants in PTHLH and TRPS1 genes causing syndromic brachydactyly"
2021 · Francesca Marta Elli, Deborah Mattinzoli, et al. · Publons reviews and discussion
Works count: 18
Citation count: 162
H-index: 5
I10-index: 4
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