List of works - Alessia Fiorentino

Analysis of ANK3 and CACNA1C variants identified in bipolar disorder whole genome sequence data.

scientific article

Association of rare variation in the glutamate receptor gene SLC1A2 with susceptibility to bipolar disorder and schizophrenia.

scientific article

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

scientific article published on 21 January 2017

Brain derived neurotrophic factor (BDNF) expression is regulated by microRNAs miR-26a and miR-26b allele-specific binding.

scientific article

Exome sequence analysis and follow up genotyping implicates rare ULK1 variants to be involved in susceptibility to schizophrenia.

scientific article published on 17 November 2017

Genetic association and functional characterization of MCPH1 gene variation in bipolar disorder and schizophrenia

scientific article published on 11 March 2019

Genetic association, mutation screening, and functional analysis of a Kozak sequence variant in the metabotropic glutamate receptor 3 gene in bipolar disorder.

scientific article

Genetic variant analysis of the putative regulatory regions of the LRRC7 gene in bipolar disorder.

scientific article published on April 2016

Genetic variation in the miR-708 gene and its binding targets in bipolar disorder.

scientific article

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females

scientific article published on 2 October 2017

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

scientific journal article

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

scientific article

Rare variant analysis in multiply affected families, association studies and functional analysis suggest a role for the ITGΒ4 gene in schizophrenia and bipolar disorder.

scientific article published on 9 March 2018

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

scientific article published on 9 June 2016

The functional GRM3 Kozak sequence variant rs148754219 affects the risk of schizophrenia and alcohol dependence as well as bipolar disorder

scientific article

Whole-exome sequencing of individuals from an isolated population implicates rare risk variants in bipolar disorder

scientific article

List of works by Alessia Fiorentino

Analysis of ANK3 and CACNA1C variants identified in bipolar disorder whole genome sequence data.

Association of rare variation in the glutamate receptor gene SLC1A2 with susceptibility to bipolar disorder and schizophrenia.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Brain derived neurotrophic factor (BDNF) expression is regulated by microRNAs miR-26a and miR-26b allele-specific binding.

Exome sequence analysis and follow up genotyping implicates rare ULK1 variants to be involved in susceptibility to schizophrenia.

Genetic association and functional characterization of MCPH1 gene variation in bipolar disorder and schizophrenia

Genetic association, mutation screening, and functional analysis of a Kozak sequence variant in the metabotropic glutamate receptor 3 gene in bipolar disorder.

Genetic variant analysis of the putative regulatory regions of the LRRC7 gene in bipolar disorder.

Genetic variation in the miR-708 gene and its binding targets in bipolar disorder.

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

Rare variant analysis in multiply affected families, association studies and functional analysis suggest a role for the ITGΒ4 gene in schizophrenia and bipolar disorder.

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

The functional GRM3 Kozak sequence variant rs148754219 affects the risk of schizophrenia and alcohol dependence as well as bipolar disorder

Whole-exome sequencing of individuals from an isolated population implicates rare risk variants in bipolar disorder