Giulio Piluso
Naples, Italy
Last Updated: 09/26/2026
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Found 76 publications
A case of Incontinentia Pigmenti associated with concurrent IKBKG/NEMO and MED13L mutations.
Journal: Frontiers in medicine
Published: February 27, 2026
Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in NRAP.
Journal: Genes
Published: November 17, 2025
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Journal: Breast (Edinburgh, Scotland)
Published: September 15, 2025
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies.
Journal: American journal of medical genetics. Part A
Published: September 04, 2025
Prevalence and management of lower limb segmental overgrowth in patients with NF1: an observational study.
Journal: Orphanet journal of rare diseases
Published: July 21, 2025
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.
Journal: Genetics in medicine open
Published: May 05, 2025
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.
Journal: European journal of human genetics : EJHG
Published: April 08, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.
Journal: Neurology. Genetics
Published: March 20, 2025
A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant.
Journal: Children (Basel, Switzerland)
Published: January 30, 2025
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.
Journal: American journal of medical genetics. Part A
Published: November 20, 2024
Last Updated: 09/26/2026