Alice Spano
Novara, Italy
Last Updated: 09/26/2026
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Found 15 publications
Dermatologic surveillance in healthy carriers of CDKN2A and p.E318K MITF germline variants from melanoma-prone families: a 14 years hospital-based experience.
Journal: Melanoma research
Published: July 07, 2025
Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders.
Journal: Frontiers in genetics
Published: March 31, 2025
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Journal: American journal of human genetics
Published: December 19, 2023
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Journal: NPJ genomic medicine
Published: August 16, 2023
A case of early-onset Parkinson's disease in a patient with KBG syndrome.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: June 02, 2023
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
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Journal: Frontiers in genetics
Published: February 13, 2022
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.
Journal: European journal of medical genetics
Published: April 16, 2021
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome.
Journal: Frontiers in neurology
Published: April 03, 2020
The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report.
Journal: Frontiers in endocrinology
Published: March 05, 2020
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: June 11, 2019
Last Updated: 09/26/2026