List of works - Fabio Macciardi

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

scientific article published on 29 September 2013

Identification of common variants associated with human hippocampal and intracranial volumes

scientific article published on 15 April 2012

Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia

scientific article

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

scientific article

The brain-derived neurotrophic factor gene confers susceptibility to bipolar disorder: evidence from a family-based association study.

scientific article published on 02 August 2002

Subcortical brain volume abnormalities in 2028 individuals with schizophrenia and 2540 healthy controls via the ENIGMA consortium

scientific article

Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease

scientific article published in 2009

Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis

scientific journal article

A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype

scientific article

MYO1E mutations and childhood familial focal segmental glomerulosclerosis

scientific article

Genome-wide association study of obsessive-compulsive disorder.

scientific article

Serotonin subtype 2 receptor genes and clinical response to clozapine in schizophrenia patients.

scientific article published in August 1998

Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture

scientific article published in October 2013

Pharmacogenetics of tardive dyskinesia: combined analysis of 780 patients supports association with dopamine D3 receptor gene Ser9Gly polymorphism

scientific article

Erratum: Subcortical brain volume abnormalities in 2028 individuals with schizophrenia and 2540 healthy controls via the ENIGMA consortium.

scientific article published on 18 August 2015

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

scientific article

Association of the MscI polymorphism of the dopamine D3 receptor gene with tardive dyskinesia in schizophrenia

scientific article published in July 1999

Reelin gene alleles and susceptibility to autism spectrum disorders

scientific article

Variability of 5-HT2C receptor cys23ser polymorphism among European populations and vulnerability to affective disorder

scientific article published in September 2001

SNP-based pathway enrichment analysis for genome-wide association studies

scientific article

Analysis of miR-137 expression and rs1625579 in dorsolateral prefrontal cortex

scientific article published on 17 June 2013

Genetic analysis of quantitative phenotypes in AD and MCI: imaging, cognition and biomarkers

scientific article (publication date: June 2014)

Support for EKN1 as the susceptibility locus for dyslexia on 15q21

scientific article

Gene discovery through imaging genetics: identification of two novel genes associated with schizophrenia

scientific article

Cortical Brain Abnormalities in 4474 Individuals With Schizophrenia and 5098 Control Subjects via the Enhancing Neuro Imaging Genetics Through Meta Analysis (ENIGMA) Consortium

article

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

scientific article

Association between the dopamine transporter gene and posttraumatic stress disorder

scientific article published in January 2002

Evidence that the N-methyl-D-aspartate subunit 1 receptor gene (GRIN1) confers susceptibility to bipolar disorder

scientific article

Identifying gene regulatory networks in schizophrenia

scientific article

Genome-wide strategies for discovering genetic influences on cognition and cognitive disorders: methodological considerations

scientific article published on January 2009

Association study of 12 polymorphisms spanning the dopamine D(2) receptor gene and clozapine treatment response in two treatment refractory/intolerant populations

scientific article published in August 2005

Adult attention deficit hyperactivity disorder and the dopamine D4 receptor gene.

scientific article published in June 2000

Combined analysis of 635 patients confirms an age-related association of the serotonin 2A receptor gene with tardive dyskinesia and specificity for the non-orofacial subtype

scientific article published on 28 April 2005

Lack of association between the T-->C 267 serotonin 5-HT6 receptor gene (HTR6) polymorphism and prediction of response to clozapine in schizophrenia

scientific article

Paraoxonase gene variants are associated with autism in North America, but not in Italy: possible regional specificity in gene-environment interactions.

scientific article

Association of the putative susceptibility gene, transient receptor potential protein melastatin type 2, with bipolar disorder

scientific article

Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohort

scientific article

Genome scan of Arab Israeli families maps a schizophrenia susceptibility gene to chromosome 6q23 and supports a locus at chromosome 10q24.

scientific article published in May 2003

The dopamine-4 receptor gene associated with binge eating and weight gain in women with seasonal affective disorder: an evolutionary perspective

scientific article published in November 2004

AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia

scientific article (publication date: October 2006)

Pharmacogenetics of antipsychotic treatment: lessons learned from clozapine

scientific article

Schizophrenia miR-137 locus risk genotype is associated with dorsolateral prefrontal cortex hyperactivation

scientific article published on August 2013

Mitochondrial mutations and polymorphisms in psychiatric disorders

scientific article

Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European multicenter association study of affective disorders

scholarly article by Isabelle Massat et al published 14 February 2002 in American Journal of Medical Genetics Part A

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

scientific article

Outcomes on lithium treatment as a tool for genetic studies in affective disorders

scientific article published on April 1984

Analysis of the D4 Dopamine Receptor Gene Variant in an Italian Schizophrenia Kindred

article

Association between the BDNF gene and schizophrenia

scientific article published in February 2003

Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

scientific article

List of works by Fabio Macciardi

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

Identification of common variants associated with human hippocampal and intracranial volumes

Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

The brain-derived neurotrophic factor gene confers susceptibility to bipolar disorder: evidence from a family-based association study.

Subcortical brain volume abnormalities in 2028 individuals with schizophrenia and 2540 healthy controls via the ENIGMA consortium

Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease

Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis

A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype

MYO1E mutations and childhood familial focal segmental glomerulosclerosis

Genome-wide association study of obsessive-compulsive disorder.

Serotonin subtype 2 receptor genes and clinical response to clozapine in schizophrenia patients.

Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture

Pharmacogenetics of tardive dyskinesia: combined analysis of 780 patients supports association with dopamine D3 receptor gene Ser9Gly polymorphism

Erratum: Subcortical brain volume abnormalities in 2028 individuals with schizophrenia and 2540 healthy controls via the ENIGMA consortium.

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

Association of the MscI polymorphism of the dopamine D3 receptor gene with tardive dyskinesia in schizophrenia

Reelin gene alleles and susceptibility to autism spectrum disorders

Variability of 5-HT2C receptor cys23ser polymorphism among European populations and vulnerability to affective disorder

SNP-based pathway enrichment analysis for genome-wide association studies

Analysis of miR-137 expression and rs1625579 in dorsolateral prefrontal cortex

Genetic analysis of quantitative phenotypes in AD and MCI: imaging, cognition and biomarkers

Support for EKN1 as the susceptibility locus for dyslexia on 15q21

Gene discovery through imaging genetics: identification of two novel genes associated with schizophrenia

Cortical Brain Abnormalities in 4474 Individuals With Schizophrenia and 5098 Control Subjects via the Enhancing Neuro Imaging Genetics Through Meta Analysis (ENIGMA) Consortium

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

Association between the dopamine transporter gene and posttraumatic stress disorder

Evidence that the N-methyl-D-aspartate subunit 1 receptor gene (GRIN1) confers susceptibility to bipolar disorder

Identifying gene regulatory networks in schizophrenia

Genome-wide strategies for discovering genetic influences on cognition and cognitive disorders: methodological considerations

Association study of 12 polymorphisms spanning the dopamine D(2) receptor gene and clozapine treatment response in two treatment refractory/intolerant populations

Adult attention deficit hyperactivity disorder and the dopamine D4 receptor gene.

Combined analysis of 635 patients confirms an age-related association of the serotonin 2A receptor gene with tardive dyskinesia and specificity for the non-orofacial subtype

Lack of association between the T-->C 267 serotonin 5-HT6 receptor gene (HTR6) polymorphism and prediction of response to clozapine in schizophrenia

Paraoxonase gene variants are associated with autism in North America, but not in Italy: possible regional specificity in gene-environment interactions.

Association of the putative susceptibility gene, transient receptor potential protein melastatin type 2, with bipolar disorder

Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohort

Genome scan of Arab Israeli families maps a schizophrenia susceptibility gene to chromosome 6q23 and supports a locus at chromosome 10q24.

The dopamine-4 receptor gene associated with binge eating and weight gain in women with seasonal affective disorder: an evolutionary perspective

AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia

Pharmacogenetics of antipsychotic treatment: lessons learned from clozapine

Schizophrenia miR-137 locus risk genotype is associated with dorsolateral prefrontal cortex hyperactivation

Mitochondrial mutations and polymorphisms in psychiatric disorders

Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European multicenter association study of affective disorders

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

Outcomes on lithium treatment as a tool for genetic studies in affective disorders

Analysis of the D4 Dopamine Receptor Gene Variant in an Italian Schizophrenia Kindred

Association between the BDNF gene and schizophrenia

Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.