Publications by authors named "Francesca Lepri"

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Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.
Chiara Minotti, Sara Terreri, Andrea Del Fattore, Francesca Romana Lepri, Rosario Ruta

Clin Genet· January 2026

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Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080).
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Francesca Romana Lepri

Am J Med Genet A· December 2025

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Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2B.
Francesca Romana Lepri, Ludovico Graziani, Lucia Menale, Milena Viggiano, Roberta Bucci

Prenat Diagn· December 2025

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Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study.
Arianna Maiorana, Francesco Tagliaferri, Roberta Iannuzzi, Gabriele Canciani, Silvia M Bernabei, Francesca R Lepri

Horm Res Paediatr· September 2025

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An Unusual Liver and Kidney Involvement in Congenital Hyperinsulinism with HNF1A Mutation: A Case Report.
Evelina Maines, Arianna Maiorana, Maria Chiara Cardellini, Aldo Naselli, Annalisa Cuccu, Francesca Romana Lepri

Horm Res Paediatr· July 2025

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MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri

Am J Med Genet A· June 2025

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Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.
Giorgia Olivieri, Benedetta Greco, Sara Cairoli, Giulio Catesini, Francesca Romana Lepri

J Inherit Metab Dis· January 2025

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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Gioia Mastromoro, Claudia Santoro, Marialetizia Motta, Ugo Sorrentino, Paola Daniele, Francesca Lepri

Genet Med· November 2024

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Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine.
Katarina Šikić, Tessa M A Peters, Udo Engelke, Danijela Petković Ramadža, Tamara Žigman, Francesca Romana Lepri

JIMD Rep· November 2024

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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo

Eur J Hum Genet· August 2024

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A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report.
Maria Cristina Artesani, Sara Santarsiero, Emanuela Sitzia, Francesca Romana Lepri, Monia Magliozzi

Front Pediatr· May 2024

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Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant.
Silvia Ventresca, Francesca Romana Lepri, Sabrina Criscuolo, Giorgia Bottaro, Antonio Novelli

Front Endocrinol (Lausanne)· April 2024

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Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.
Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri, Martin Poms, Bianca Maria Goffredo

Orphanet J Rare Dis· January 2024

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Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Francesca Peluso, Stefano G Caraffi, Gianluca Contrò, Lara Valeri, Manuela Napoli, Francesca Romana Lepri

J Med Genet· November 2023

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Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in .
Andrea Finocchi, Lucia Pacillo, Maria Chiriaco, Gigliola Di Matteo, Paola Francalanci, Francesca Romana Lepri

Front Genet· November 2023

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Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2.
Daniele Guadagnolo, Gioia Mastromoro, Nader Khaleghi Hashemian, Valeria Orlando, Francesca Romana Lepri

J Obstet Gynaecol Can· August 2023

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Deep Intronic LINE-1 Insertions in : Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.
Viola Alesi, Silvia Genovese, Francesca Romana Lepri, Giorgia Catino, Sara Loddo

Biomolecules· April 2023

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The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of Gene Focusing on Liver Involvement: Patient Report and Literature Review.
Andrea Pietrobattista, Luca Della Volpe, Paola Francalanci, Lorenzo Figà Talamanca, Lidia Monti, Francesca Romana Lepri

Genes (Basel)· March 2023

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Prenatal Clinical Findings in -Related Capillary Malformation-Arteriovenous Malformation Syndrome.
Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Francesca Romana Lepri

Genes (Basel)· February 2023

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Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome.
Diana Carli, Simona Cardaropoli, Daniele Tessaris, Paola Coppo, Roberta La Selva, Francesca Romana Lepri

Genes Chromosomes Cancer· December 2022

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Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1.
Viola Alesi, Francesca Romana Lepri, Maria Lisa Dentici, Silvia Genovese, Ester Sallicandro

Eur J Hum Genet· November 2022

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High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.
Daniela Semeraro, Sara Verrocchio, Giulia Di Dalmazi, Claudia Rossi, Damiana Pieragostino, Francesca Romana Lepri

Int J Environ Res Public Health· July 2022

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Combined isobutyryl-CoA and multiple acyl-CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis.
Albina Tummolo, Piero Leone, Maria Tolomeo, Rita Solito, Matteo Mattiuzzo, Francesca Romana Lepri

JIMD Rep· July 2022

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The diagnostic challenge of mild citrulline elevation at newborn screening.
Barbara Siri, Giorgia Olivieri, Antonio Angeloni, Sara Cairoli, Claudia Carducci, Francesca Romana Lepri

Mol Genet Metab· April 2022

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Hypoglycaemia Metabolic Gene Panel Testing.
Arianna Maiorana, Francesca Romana Lepri, Antonio Novelli, Carlo Dionisi-Vici

Front Endocrinol (Lausanne)· April 2022

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