Ilaria Longo
Siena, 53100, Italy
Last Updated: 09/26/2026
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Found 9 publications
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Journal: medRxiv : the preprint server for health sciences
Published: September 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Journal: Cell
Published: August 19, 2024
AUTS2-related syndrome: Insights from a large European cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 28, 2024
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Journal: Prenatal diagnosis
Published: August 05, 2022
17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: October 19, 2019
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Journal: Molecular genetics & genomic medicine
Published: July 25, 2019
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome.
Journal: Human mutation
Published: May 18, 2017
A unique patient presenting with concomitant Klinefelter syndrome, Alport syndrome, and craniopharyngioma.
Journal: Journal of andrology
Published: April 21, 2012
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Last Updated: 09/26/2026