List of works - Michele Pinelli

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.

scientific article published on 12 December 2017

A novel approach to simulate gene-environment interactions in complex diseases

scientific article published on 5 January 2010

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

scientific article published on 29 April 2020

A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis

scientific article published on 01 June 2019

Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema

scientific article published on 29 August 2020

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases

scientific article

An atlas of gene expression and gene co-regulation in the human retina.

scientific article published on 27 May 2016

An extremely severe phenotype attributed to WDR81 nonsense mutations

scientific article published on 3 October 2017

Author Correction: Parent-of-origin-specific signatures of de novo mutations

scientific article published on 01 November 2018

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

scientific article published on 29 September 2017

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

article

Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich's ataxia?

scientific article published on 13 December 2012

Clustering, Assessment and Validation: an application to gene expression data

scientific article published in August 2007

Corrigendum to "The combination of UCP3-55CT and PPARγ2Pro12Ala polymorphisms affects BMI and substrate oxidation in two diabetic populations" [Nutr Metab Cardiovasc Dis 26 (2016) 400-406]

scientific article published on 13 April 2017

DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.

scientific article published on 12 August 2008

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

scientific article published in 2022

Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.

scientific article published on 2 August 2017

Expansion of the phenotype of lateral meningocele syndrome

scientific article published on 06 March 2020

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation

scientific article published on 28 September 2016

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

scientific article published on 31 August 2017

Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases

scientific article

High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs

scientific article published on 26 January 2016

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

scientific article

Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF).

scientific article

Improving the estimation of celiac disease sibling risk by non-HLA genes

scientific article

Interactive data analysis and clustering of genomic data

scientific article published on 31 December 2007

PPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich's ataxia therapy.

scientific article

Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders

scientific article published on 17 October 2018

Parent-of-origin-specific signatures of de novo mutations

scientific article published on 20 June 2016

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

scientific article published on 2 July 2015

Pro12Ala polymorphism in the PPARG gene contributes to the development of diabetic nephropathy in Chinese type 2 diabetic patients: comment on the study by Liu et al

scientific article published on 01 August 2010

Pro12Ala polymorphism of the PPARgamma2 locus modulates the relationship between energy intake and body weight in type 2 diabetic patients

scientific article published on 26 January 2007

Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression

scientific article published on 01 January 2008

Schizophrenia and vitamin D related genes could have been subject to latitude-driven adaptation

scientific article published in 2010

Simulating gene-gene and gene-environment interactions in complex diseases: Gene-Environment iNteraction Simulator 2

scientific article published on 14 June 2012

Sphingolipid Metabolism Perturbations in Rett Syndrome

scientific article published on 10 October 2019

The PPARγ2 Pro12Ala variant is protective against progression of nephropathy in people with type 2 diabetes.

scientific article

The combination of UCP3-55CT and PPARγ2Pro12Ala polymorphisms affects BMI and substrate oxidation in two diabetic populations

scientific article published on 22 February 2016

The energy intake modulates the association of the -55CT polymorphism of UCP3 with body weight in type 2 diabetic patients

scientific article

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

scientific article published on 01 April 2019

Uncoupling protein 2 G(-866)A polymorphism: a new gene polymorphism associated with C-reactive protein in type 2 diabetic patients

scientific article

VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database

scholarly article by Francesco Musacchia published in December 2018

List of works by Michele Pinelli

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.

A novel approach to simulate gene-environment interactions in complex diseases

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis

Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases

An atlas of gene expression and gene co-regulation in the human retina.

An extremely severe phenotype attributed to WDR81 nonsense mutations

Author Correction: Parent-of-origin-specific signatures of de novo mutations

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich's ataxia?

Clustering, Assessment and Validation: an application to gene expression data

Corrigendum to "The combination of UCP3-55CT and PPARγ2Pro12Ala polymorphisms affects BMI and substrate oxidation in two diabetic populations" [Nutr Metab Cardiovasc Dis 26 (2016) 400-406]

DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.

Expansion of the phenotype of lateral meningocele syndrome

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases

High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF).

Improving the estimation of celiac disease sibling risk by non-HLA genes

Interactive data analysis and clustering of genomic data

PPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich's ataxia therapy.

Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders

Parent-of-origin-specific signatures of de novo mutations

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

Pro12Ala polymorphism in the PPARG gene contributes to the development of diabetic nephropathy in Chinese type 2 diabetic patients: comment on the study by Liu et al

Pro12Ala polymorphism of the PPARgamma2 locus modulates the relationship between energy intake and body weight in type 2 diabetic patients

Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression

Schizophrenia and vitamin D related genes could have been subject to latitude-driven adaptation

Simulating gene-gene and gene-environment interactions in complex diseases: Gene-Environment iNteraction Simulator 2

Sphingolipid Metabolism Perturbations in Rett Syndrome

The PPARγ2 Pro12Ala variant is protective against progression of nephropathy in people with type 2 diabetes.

The combination of UCP3-55CT and PPARγ2Pro12Ala polymorphisms affects BMI and substrate oxidation in two diabetic populations

The energy intake modulates the association of the -55CT polymorphism of UCP3 with body weight in type 2 diabetic patients

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

Uncoupling protein 2 G(-866)A polymorphism: a new gene polymorphism associated with C-reactive protein in type 2 diabetic patients

VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database