F. Macciardi

Publications350
h-index74
Citations25,728
Highly Influential Citations866
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Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
TLDR
18 new loci associated with body mass index are identified, one of which includes a copy number variant near GPRC5B, and genes in other newly associated loci may provide new insights into human body weight regulation.
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
TLDR
Moderate powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility.
View on Nature
Genetic and physiological data implicating the new human gene G72 and the gene for d-amino acid oxidase in schizophrenia
TLDR
A map of 191 single-nucleotide polymorphism (SNPs) was built across a 5-Mb segment from chromosome 13q34 that has been genetically linked to schizophrenia, pointing to the involvement of this N-methyl-d-aspartate receptor regulation pathway in schizophrenia.
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Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia.
TLDR
A map of 191 single-nucleotide polymorphism (SNPs) was built across a 5-Mb segment from chromosome 13q34 that has been genetically linked to schizophrenia, pointing to the involvement of this N-methyl-d-aspartate receptor regulation pathway in schizophrenia.
View on Nature
Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index
TLDR
Genetic loci associated with body mass index map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor, which may provide new insights into human body weight regulation.
View on Nature
Analysis of shared heritability in common disorders of the brain
TLDR
It is demonstrated that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine, and it is shown that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures.
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Identification of common variants associated with human hippocampal and intracranial volumes
TLDR
A genome-wide association meta-analyses and replication for mean bilateral hippocampal, total brain and intracranial volumes from a large multinational consortium are reported and a suggestive association with total brain volume is identified.
View on Nature
Support for EKN1 as the susceptibility locus for dyslexia on 15q21
TLDR
Significant evidence for an association to dyslexia is found and evidence of association to the reading and related processes of phonological awareness, word identification, decoding, rapid automatized naming, language ability, and verbal short-term memory is found.
View on Nature
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
TLDR
This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
View on Nature
The brain-derived neurotrophic factor gene confers susceptibility to bipolar disorder: evidence from a family-based association study.
TLDR
Test for the presence of linkage disequilibrium between two polymorphisms in the BDNF gene and BP in 283 nuclear families found it unlikely that the actual risk-conferring allele is from these two sites, but suggests that a DNA variant in the vicinity of the BD NF locus confers susceptibility to BP.
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