Francesca R. Lepri

Rome, Italy

Last Updated: 09/26/2026

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Found 76 publications

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Journal: European journal of human genetics : EJHG

Published: September 23, 2025

Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2B.

Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2B.

Journal: Prenatal diagnosis

Published: July 18, 2025

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080).

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080).

Journal: American journal of medical genetics. Part A

Published: May 12, 2025

Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.

Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.

Journal: Clinical genetics

Published: April 01, 2025

An Unusual Liver and Kidney Involvement in Congenital Hyperinsulinism with HNF1A Mutation: A Case Report.

An Unusual Liver and Kidney Involvement in Congenital Hyperinsulinism with HNF1A Mutation: A Case Report.

Journal: Hormone research in paediatrics

Published: February 12, 2025

MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.

MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.

Journal: American journal of medical genetics. Part A

Published: November 11, 2024

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 03, 2024

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Journal: European journal of human genetics : EJHG

Published: January 26, 2024

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.

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.

Journal: Frontiers in endocrinology

Published: January 01, 2024

A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report.

A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report.

Journal: Frontiers in pediatrics

Published: December 06, 2023

Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study.

Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study.

Journal: Hormone research in paediatrics

Published: November 07, 2023

Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.

Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.

Journal: Journal of inherited metabolic disease

Published: October 16, 2023

Showing 1-12 of 76

Last Updated: 09/26/2026