Marcella L. Cesana
Pozzuoli, 80078, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 27 publications
Correction: Nosi et al. MET Exon 14 Skipping: A Case Study for the Detection of Genetic Variants in Cancer Driver Genes by Deep Learning. Int. J. Mol. Sci. 2021, 22, 4217.
Journal: International journal of molecular sciences
Published: December 15, 2025
Deciphering brain metastasis in epithelial ovarian cancer: multimodal analysis and potential biomarkers.
Journal: NPJ precision oncology
Published: April 29, 2025
Variant sub-tiering, disease-gene associations and strictness of clinical criteria improves the interpretation of variants of uncertain significance in hereditary cardiomyopathies and rhythm disorders.
Journal: Journal of human genetics
Published: October 10, 2024
TRPML-1 Dysfunction and Renal Tubulopathy in Mucolipidosis Type IV.
Journal: Journal of the American Society of Nephrology : JASN
Published: July 25, 2024
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.
Journal: Orphanet journal of rare diseases
Published: June 17, 2024
TFEB controls syncytiotrophoblast formation and hormone production in placenta.
Journal: Cell death and differentiation
Published: May 27, 2024
Polygenic risk for schizophrenia converges on alternative polyadenylation as molecular mechanism underlying synaptic impairment.
Journal: bioRxiv : the preprint server for biology
Published: January 23, 2024
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID.
Journal: Nature communications
Published: October 13, 2023
TFEB and TFE3 control glucose homeostasis by regulating insulin gene expression.
Journal: The EMBO journal
Published: March 02, 2023
EGR1 drives cell proliferation by directly stimulating TFEB transcription in response to starvation.
EGR1 drives cell proliferation by directly stimulating TFEB transcription in response to starvation.
Journal: PLoS biology
Published: September 21, 2022
Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease-gene association.
Journal: Human genetics
Published: August 04, 2022
Esrrb guides naive pluripotent cells through the formative transcriptional programme.
Journal: Nature cell biology
Published: August 30, 2021
Last Updated: 09/26/2026