Roberta Tammaro
Pozzuoli, Italy
Last Updated: 09/26/2026
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Found 13 publications
Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations.
Journal: European journal of human genetics : EJHG
Published: August 25, 2025
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 02, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Journal: American journal of human genetics
Published: January 24, 2023
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: January 31, 2022
OFD1: One gene, several disorders.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: January 03, 2022
Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanoma.
Journal: Cell reports
Published: July 06, 2021
miR-181a/b downregulation exerts a protective action on mitochondrial disease models.
Journal: EMBO molecular medicine
Published: April 14, 2019
The deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signaling.
Journal: Human molecular genetics
Published: June 08, 2018
Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo.
Journal: Scientific reports
Published: March 01, 2016
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
Journal: American journal of human genetics
Published: July 26, 2012
Last Updated: 09/26/2026