Ilaria Bestetti
Milan, 20122, Italy
Last Updated: 09/26/2026
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Found 22 publications
STAG1: Bridging the Gap Between Cohesin Complex and Epigenetic Machinery.
Journal: Genes
Published: February 20, 2026
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.
Journal: Frontiers in genetics
Published: July 29, 2024
Case Report: Novel homozygous MAN1B1mutation in two Italians patients with Rafiq syndrome.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: July 02, 2024
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.
Journal: Frontiers in genetics
Published: December 19, 2023
When alpha spectrin null alleles meet low expression alpha spectrin polymorphisms.
Journal: British journal of haematology
Published: June 14, 2023
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
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Journal: International journal of molecular sciences
Published: April 14, 2022
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.
Journal: European journal of human genetics : EJHG
Published: November 29, 2021
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
Journal: American journal of medical genetics. Part A
Published: December 15, 2020
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.
Journal: Human reproduction (Oxford, England)
Published: September 25, 2020
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome.
Journal: Frontiers in neurology
Published: April 03, 2020
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
Last Updated: 09/26/2026