Maria Piccione

Italian Society of Physiotherapy — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

29h-index2.2kcitations201works1.62yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(39), Congenital heart defects research(16), Genetics and Neurodevelopmental Disorders(16), Prenatal Screening and Diagnostics(15), Genetic Syndromes and Imprinting(14)

Publications188 total

INVASIVE PNEUMOCOCCAL DISEASES IN CHILDREN AGED 1-59 MONTHS IN SICILY, ITALY: IMPORTANCE OF ACTIVE FAMILY PAEDIATRICIAN SURVEILLANCE AND VACCINATION COVERAGE.
EuroMediterranean Biomedical Journal·2026· 4 citedOpen Access
Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis
Scientific Reports·2025Open Access
DDX3X syndrome: a multicenter genotype-phenotype study
2025Open Access
RASBURICASE-INDUCED METHEMOGLOBINEMIA IN A PATIENT WITH MARGINAL ZONE LYMPHOMA
CHEST Journal·2025
Development and Validation of a Practical Tool for Assessing Acute Pain in the Pediatric Population With Down Syndrome (ANDREAS): A Study Protocol
Cureus·2025Open Access
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations
Scientific Reports·2025Open Access
Lupus Cerebritis in the Critical Care Setting: A Rare Neuropsychiatric Complication of Systemic Lupus Erythematosus
American Journal of Respiratory and Critical Care Medicine·2025
Genetic Screening of Tuberous Sclerosis Complex in Sicily with a Focus on Neurological Manifestations
2025Open Access
<i>CDK13</i> ‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
Clinical Genetics·2025· 2 citedOpen Access
Author response for "&lt;i&gt;CDK13&lt;/i&gt;‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management"
2025
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort
European Journal of Medical Genetics·2024· 3 citedOpen Access
The Italian Perinatal Surveillance System SPItOSS: insights from Confidential Enquiries
˜The œItalian Journal of Pediatrics/Italian journal of pediatrics·2024Open Access
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the <i>IGF1R</i> Gene
The Journal of Clinical Endocrinology & Metabolism·2024· 6 citedOpen Access
P-20 A real-life study in HIV-infected patients on NNRTI-regimen undergoing therapeutic optimization
Poster·2024Open Access
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily
Medicina·2024· 4 citedOpen Access
ARID1B-related disorder in 87 adults: Natural history and self-sustainability
Genetics in Medicine Open·2024· 6 citedOpen Access
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene
Genetics in Medicine·2023· 2 citedOpen Access
RP1 Dominant p.Ser740* Pathogenic Variant In 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Founder Effect in Western Sicily
Preprints.org·2023· 3 citedOpen Access
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
Human Genetics·2023· 4 cited
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly
Frontiers in Neurology·2023· 5 citedOpen Access
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Frequent Co-authors

Giovanni Corsello(29), Mario Giuffrè(11), Cristina Gervasini(10), Ettore Piro(10), Donatella Milani(7), Michela Malacarne(7), Vincenzo Antona(7), Silvia Maitz(6), Giuseppe Merla(6), Paolo Prontera(6), Simona Cavani(6), Elisa Biamino(5), Gabriella Maria Squeo(5), Marco Tartaglia(5), Mauro Pierluigi(5), Haley McConkey(4), Jennifer Kerkhof(4), Bekim Sadiković(4), Rita Fischetto(4), Lidia Larizza(4)