Alessandro Mussa
Turin, 10126, Italy
Last Updated: 09/26/2026
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Found 151 publications
PPP1CB-Related Noonan Syndrome with Loose Anagen Hair: A Systematic Review.
Journal: Genes
Published: May 06, 2026
Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.
Journal: Journal of medical genetics
Published: April 17, 2026
Human Endogenous Retroviruses and Epigenetic Regulators Are Dysregulated in Beckwith-Wiedemann Syndrome.
Journal: Current issues in molecular biology
Published: January 29, 2026
VPS35L-related Ritscher-Schinzel syndrome: Expanding genotype-phenotype correlations.
Journal: European journal of medical genetics
Published: January 15, 2026
Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders.
Journal: Scientific reports
Published: December 16, 2025
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.
Journal: Human genetics
Published: November 21, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Journal: JAMA network open
Published: October 17, 2025
DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.
Journal: American journal of medical genetics. Part A
Published: October 02, 2025
Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025
Last Updated: 09/26/2026