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List of works by Mario Falchi

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Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

scientific article (publication date: July 2008)
Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.

scientific article published on May 2008
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

scientific article
Repeatability of published microarray gene expression analyses

scientific article
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

scientific article
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia

scientific article
New gene functions in megakaryopoiesis and platelet formation

scientific article published on 30 November 2011
Mapping genetic loci that determine leukocyte telomere length in a large sample of unselected female sibling pairs

scientific article
Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi

scientific article
Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

scientific article
New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk

scientific article published on February 2016
Low copy number of the salivary amylase gene predisposes to obesity.

scientific article published on 30 March 2014
A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function

scientific article published on 12 February 2009
Nevus size and number are associated with telomere length and represent potential markers of a decreased senescence in vivo.

scientific article
Genome-wide linkage scan for athlete status in 700 British female DZ twin pairs

scientific article published on December 2007
Epigenetic associations of type 2 diabetes and BMI in an Arab population

scientific article published on 28 January 2016
Beneficial effect of a high number of copies of salivary amylase AMY1 gene on obesity risk in Mexican children.

scientific article published on 14 November 2014
Real-time tracking of self-reported symptoms to predict potential COVID-19

scientific article published on 11 May 2020
Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate

scientific article
Heritability of serum TSH, free T4 and free T3 concentrations: a study of a large UK twin cohort

scientific article published on 29 October 2007
A genomewide search using an original pairwise sampling approach for large genealogies identifies a new locus for total and low-density lipoprotein cholesterol in two genetically differentiated isolates of Sardinia.

scientific article
Association of DNA methylation with age, gender, and smoking in an Arab population

scientific article
Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease

scientific article published on 21 December 2015
Association of sirtuin 1 (SIRT1) gene SNPs and transcript expression levels with severe obesity

scientific article published on 14 July 2011
A new essential hypertension susceptibility locus on chromosome 2p24-p25, detected by genomewide search

scientific article published on 12 September 2002
GUESS-ing polygenic associations with multiple phenotypes using a GPU-based evolutionary stochastic search algorithm

scientific article
Differential coexpression analysis of obesity-associated networks in human subcutaneous adipose tissue.

scientific article
Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations

article
Genome-wide search for nevus density shows linkage to two melanoma loci on chromosome 9 and identifies a new QTL on 5q31 in an adult twin cohort

article by Mario Falchi et al published 23 August 2006 in Human Molecular Genetics
A genome-wide linkage scan for age at menarche in three populations of European descent

scientific article published on 22 July 2008
The relationship between DXA-based and anthropometric measures of visceral fat and morbidity in women

scientific article
A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol

scientific article
Systems biology of the IMIDIA biobank from organ donors and pancreatectomised patients defines a novel transcriptomic signature of islets from individuals with type 2 diabetes

scientific article published on 28 November 2017
Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.

scientific article published on 14 July 2015
Novel LEPR mutations in obese Pakistani children identified by PCR-based enrichment and next generation sequencing.

scientific article
A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levels

scientific article (publication date: 2012)
Metabolomic Profile of Low-Copy Number Carriers at the Salivary α-Amylase Gene Suggests a Metabolic Shift Toward Lipid-Based Energy Production

scientific article published on 19 July 2016
Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice

scientific article
Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity

scientific article
Circulating complement factor H-related proteins 1 and 5 correlate with disease activity in IgA nephropathy

scientific article published on 30 June 2017
IgA1 Glycosylation Is Heritable in Healthy Twins

scientific article published on 16 June 2016
Genome-wide scan identifies a copy number variable region at 3p21.1 that influences the TLR9 expression levels in IgA nephropathy patients

scientific article published on 8 October 2014
Quantitative linkage analysis for pancreatic B-cell function and insulin resistance in a large twin cohort

scientific article published on 3 January 2008
Identification of QTLs for serum lipid levels in a female sib-pair cohort: a novel application to improve the power of two-locus linkage analysis

article
Changes in levels of peripheral hormones controlling appetite are inconsistent with hyperphagia in leptin-deficient subjects

scientific article published on 4 July 2013
Low-frequency variants in HMGA1 are not associated with type 2 diabetes risk

scientific article published on 30 December 2011
Identification of quantitative trait loci for fibrin clot phenotypes: the EuroCLOT study

scientific article
Jenti: an efficient tool for mining complex inbred genealogies

scientific article published on 24 January 2008
famCNV: copy number variant association for quantitative traits in families.

scientific article
Statistical tools for linkage analysis and genetic association studies

scientific article

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