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Publications

SVRare: discovering disease-causing structural variants in the 100K Genomes Project

Yu J. et al, (2021)

Estrogen-Like Effect of Mitotane Explained by Its Agonist Activity on Estrogen Receptor-α

Rossini E. et al, (2021), Biomedicines, 9, 681 - 681

Characterization of three sialidases from Danio rerio.

Forcella M. et al, (2021), Biochimie, 187, 57 - 66

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

Ragoussis V. et al, (2021), Journal of Medical Genetics

Alterations observed in the interferon α and β signaling pathway in MDD patients are marginally influenced by cis-acting alleles.

Magri C. et al, (2021), Scientific reports, 11

GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants in whole-genome sequencing

Giacopuzzi E. et al, (2020)

Investigating an in silico approach for prioritizing antidepressant drug prescription based on drug-induced expression profiles and predicted gene expression.

Shoaib M. et al, (2020), The pharmacogenomics journal

Author Correction: A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme.

Magri C. et al, (2020), Scientific reports, 10

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma

Winter H. et al, (2019), Cancers, 11, 1895 - 1895

Genomic restricted maximum likelihood (GREML) analysis to estimate the heritability of response/resistance in major depressive disorder (MDD)

Shoaib M. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1677 - 1677

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.

Ritelli M. et al, (2019), Genes, 10

Further delineation of the linkeropathy syndrome due to glucuronyltransferase I-deficiency in a family with B3GAT3 compound heterozygosity for two novel mutations revealed by whole exome sequencing

Ritelli M. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 117 - 117

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS

Ravasio V. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 598 - 598

Genome-wide analysis of RNA editing levels in human blood identified interactions with mRNA processing genes and suggested correlations with biological and drug-related variables

Giacopuzzi E. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 625 - 626

ANALYSIS OF GENETIC AND ENVIRONMENTAL CONTRIBUTION TO ALTERED GENE EXPRESSION PROFILES OBSERVED IN MAJOR DEPRESSIVE DISORDER

Giacopuzzi E. et al, (2019), EUROPEAN NEUROPSYCHOPHARMACOLOGY, 29, 1211 - 1212

Next Generation Sequencing Analysis in Early Onset Dementia Patients.

Bonvicini C. et al, (2019), Journal of Alzheimer's disease : JAD, 67, 243 - 256

THE EFFECT OF CHILDHOOD TRAUMA ON BLOOD EXPRESSION OF MED22 IN PATIENTS WITH MAJOR DEPRESSIVE DISORDER IS MEDIATED BY CIS-ACTING SNPS

Giacopuzzi E. et al, (2019), EUROPEAN NEUROPSYCHOPHARMACOLOGY, 29, 1214 - 1215

Treatment-Resistant Schizophrenia: Genetic and Neuroimaging Correlates.

Vita A. et al, (2019), Frontiers in pharmacology, 10

Genome-wide analysis of consistently RNA edited sites in human blood reveals interactions with mRNA processing genes and suggests correlations with cell types and biological variables.

Giacopuzzi E. et al, (2018), BMC genomics, 19

A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme.

Magri C. et al, (2018), Scientific reports, 8

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