List of works - Mario Falchi

35th Annual Meeting of the European Association for the Study of Diabetes

article

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

article

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

scientific article (publication date: 2012)

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

scientific article

A genome-wide linkage scan for age at menarche in three populations of European descent

scientific article published on 22 July 2008

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

scientific article

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

A new essential hypertension susceptibility locus on chromosome 2p24-p25, detected by genomewide search

scientific article published on 12 September 2002

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

scientific article

A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function

scientific article published on 12 February 2009

A reference map of potential determinants for the human serum metabolome

scientific article published on 11 November 2020

A statistical test for detecting parent-of-origin effects when parental information is missing

scientific article published on September 2017

Acne and Telomere Length: A New Spectrum Between Senescence and Apoptosis Pathways

scientific article (publication date: September 2016)

Analysis of Quantitative Trait Loci

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

scientific article

Association of sirtuin 1 (SIRT1) gene SNPs and transcript expression levels with severe obesity

scientific article published on 14 July 2011

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

Body site-specific genetic effects influence naevus count distribution in women

scientific article published on 25 August 2019

Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.

scientific article published on May 2008

CDKN2B expression and subcutaneous adipose tissue expandability: possible influence of the 9p21 atherosclerosis locus

scientific article published on 25 March 2014

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

scientific article published on 4 July 2013

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

scientific article published on 30 June 2017

Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice

scientific article

Diagnostic value of cutaneous manifestation of SARS‐CoV‐2 infection*

scientific article published on 2 March 2021

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

scientific article

Epigenetic associations of type 2 diabetes and BMI in an Arab population

scientific article published on 28 January 2016

Erratum: Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.

scientific article

Extensive weight loss can reduce immune age by altering IgG N-glycosylation

scientific article published on 29 April 2020

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

scientific article

GUESS-ing polygenic associations with multiple phenotypes using a GPU-based evolutionary stochastic search algorithm

scientific article

Genetic Mapping of Quantitative Trait Loci for Disease-Related Phenotypes ⬇️

scientific article published on January 1, 2012

Genetic loci linked to pituitary-thyroid axis set points: a genome-wide scan of a large twin cohort

scientific article published on 8 July 2008

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

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

scientific article

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

scientific article

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

scientific article published on December 2007

Genome-wide scan for prospective memory suggests linkage to chromosome 12q22.

scientific article published on 24 December 2005

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

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

Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis ⬇️

scientific article published on 24 December 2016

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

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

Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate

scientific article

Identification of quantitative trait loci for fibrin clot phenotypes: the EuroCLOT study

scientific article

IgA1 Glycosylation Is Heritable in Healthy Twins

scientific article published on 16 June 2016

Impact of statistical models on the prediction of type 2 diabetes using non-targeted metabolomics profiling

scientific article published on 23 August 2016

Intrauterine, environmental, and genetic influences in the relationship between birth weight and lipids in a female twin cohort

scientific article published on 27 July 2006

Investigating the effects of copy number variants on reading and language performance

scientific article

Jenti: an efficient tool for mining complex inbred genealogies

scientific article published on 24 January 2008

Loss of smell and taste in combination with other symptoms is a strong predictor of COVID-19 infection

scientific article published on 07 April 2020

Low copy number of the salivary amylase gene predisposes to obesity.

scientific article published on 30 March 2014

Low-frequency variants in HMGA1 are not associated with type 2 diabetes risk

scientific article published on 30 December 2011

Mapping genetic loci that determine leukocyte telomere length in a large sample of unselected female sibling pairs

scientific article

Mendelian inheritance of trimodal CpG methylation sites suggests distal cis-acting genetic effects

scientific article

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

Multiple rare genetic variants co-segregating with familial IgA nephropathy all act within a single immune-related network.

scientific article published on 11 October 2016

Nevus size and number are associated with telomere length and represent potential markers of a decreased senescence in vivo.

scientific article

New gene functions in megakaryopoiesis and platelet formation

scientific article published on 30 November 2011

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

scientific article published on February 2016

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

article

Novel LEPR mutations in obese Pakistani children identified by PCR-based enrichment and next generation sequencing.

scientific article

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

scientific article

Omics studies for comprehensive understanding of immunoglobulin A nephropathy: state-of-the-art and future directions

article published in 2018

PedVizApi: a Java API for the interactive, visual analysis of extended pedigrees

scientific article

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

scientific article (publication date: July 2008)

PopPAnTe: population and pedigree association testing for quantitative data

scientific article

PowQ: a user-friendly package for the design of variance component multipoint linkage analysis studies

scientific article published in 2006

Quantitative linkage analysis for pancreatic B-cell function and insulin resistance in a large twin cohort

scientific article published on 3 January 2008

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

scientific article published on 16 November 2021

Real-time tracking of self-reported symptoms to predict potential COVID-19

scientific article published on 11 May 2020

Repeatability of published microarray gene expression analyses

scientific article

Self-reported symptoms of covid-19 including symptoms most predictive of SARS-CoV-2 infection, are heritable

scientific article published on 24 April 2020

Statistical tools for linkage analysis and genetic association studies

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

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

scientific article published on 21 December 2015

The relationship between DXA-based and anthropometric measures of visceral fat and morbidity in women

scientific article

Yoghurt consumption is associated with changes in the composition of the human gut microbiome and metabolome

scientific article published on 03 February 2022

famCNV: copy number variant association for quantitative traits in families.

scientific article

List of works by Mario Falchi

35th Annual Meeting of the European Association for the Study of Diabetes

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

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

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

A genome-wide linkage scan for age at menarche in three populations of European descent

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

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.

A new essential hypertension susceptibility locus on chromosome 2p24-p25, detected by genomewide search

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

A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function

A reference map of potential determinants for the human serum metabolome

A statistical test for detecting parent-of-origin effects when parental information is missing

Acne and Telomere Length: A New Spectrum Between Senescence and Apoptosis Pathways

Analysis of Quantitative Trait Loci

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

Association of sirtuin 1 (SIRT1) gene SNPs and transcript expression levels with severe obesity

Beneficial effect of a high number of copies of salivary amylase AMY1 gene on obesity risk in Mexican children.

Body site-specific genetic effects influence naevus count distribution in women

Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.

CDKN2B expression and subcutaneous adipose tissue expandability: possible influence of the 9p21 atherosclerosis locus

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

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

Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice

Diagnostic value of cutaneous manifestation of SARS‐CoV‐2 infection*

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

Epigenetic associations of type 2 diabetes and BMI in an Arab population

Erratum: Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.

Extensive weight loss can reduce immune age by altering IgG N-glycosylation

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

GUESS-ing polygenic associations with multiple phenotypes using a GPU-based evolutionary stochastic search algorithm

Genetic Mapping of Quantitative Trait Loci for Disease-Related Phenotypes ⬇️

Genetic loci linked to pituitary-thyroid axis set points: a genome-wide scan of a large twin cohort

Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.

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

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

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

Genome-wide scan for prospective memory suggests linkage to chromosome 12q22.

Genome-wide scan identifies a copy number variable region at 3p21.1 that influences the TLR9 expression levels in IgA nephropathy patients

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

Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis ⬇️

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

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

Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate

Identification of quantitative trait loci for fibrin clot phenotypes: the EuroCLOT study

IgA1 Glycosylation Is Heritable in Healthy Twins

Impact of statistical models on the prediction of type 2 diabetes using non-targeted metabolomics profiling

Intrauterine, environmental, and genetic influences in the relationship between birth weight and lipids in a female twin cohort

Investigating the effects of copy number variants on reading and language performance

Jenti: an efficient tool for mining complex inbred genealogies

Loss of smell and taste in combination with other symptoms is a strong predictor of COVID-19 infection

Low copy number of the salivary amylase gene predisposes to obesity.

Low-frequency variants in HMGA1 are not associated with type 2 diabetes risk

Mapping genetic loci that determine leukocyte telomere length in a large sample of unselected female sibling pairs

Mendelian inheritance of trimodal CpG methylation sites suggests distal cis-acting genetic effects

Metabolomic Profile of Low-Copy Number Carriers at the Salivary α-Amylase Gene Suggests a Metabolic Shift Toward Lipid-Based Energy Production

Multiple rare genetic variants co-segregating with familial IgA nephropathy all act within a single immune-related network.

Nevus size and number are associated with telomere length and represent potential markers of a decreased senescence in vivo.

New gene functions in megakaryopoiesis and platelet formation

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

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

Novel LEPR mutations in obese Pakistani children identified by PCR-based enrichment and next generation sequencing.

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

Omics studies for comprehensive understanding of immunoglobulin A nephropathy: state-of-the-art and future directions

PedVizApi: a Java API for the interactive, visual analysis of extended pedigrees

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

PopPAnTe: population and pedigree association testing for quantitative data

PowQ: a user-friendly package for the design of variance component multipoint linkage analysis studies

Quantitative linkage analysis for pancreatic B-cell function and insulin resistance in a large twin cohort

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

Real-time tracking of self-reported symptoms to predict potential COVID-19

Repeatability of published microarray gene expression analyses

Self-reported symptoms of covid-19 including symptoms most predictive of SARS-CoV-2 infection, are heritable

Statistical tools for linkage analysis and genetic association studies

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

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

The relationship between DXA-based and anthropometric measures of visceral fat and morbidity in women

Yoghurt consumption is associated with changes in the composition of the human gut microbiome and metabolome

famCNV: copy number variant association for quantitative traits in families.