List of works - Amélie Bonnefond

A Novel Rare Missense Variation of the Gene: Evidencesof Implication in Crohn's Disease

article

A common variant highly associated with plasma VEGFA levels also contributes to the variation of both LDL-C and HDL-C.

scientific article published on 2 December 2012

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

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

scientific article (publication date: 2012)

A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.

scientific article

A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity

scientific article published on 03 June 2014

A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome.

scientific article

A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity

scientific article published on 01 October 2019

A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk

scientific article

Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4R genes to obesity in Mexican children.

scientific article

Association between large detectable clonal mosaicism and type 2 diabetes with vascular complications

scientific article published on 14 July 2013

Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults

Associations Between Type 2 Diabetes-Related Genetic Scores and Metabolic Traits, in Obese and Normal-Weight Youths.

scientific article

Associations of vascular endothelial growth factor (VEGF) with adhesion and inflammation molecules in a healthy population

scientific article published on 30 November 2012

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

Cdkn2a deficiency promotes adipose tissue browning

scientific article published in December 2017

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.

scientific article published on 16 May 2018

Combined RNAseq and ChIPseq Analyses of the BvgA Virulence Regulator of Bordetella pertussis

scientific article published on 19 May 2020

Comment on Beltrand et al. Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations. Diabetes Care 2015;38:2033-2041.

scientific article published in September 2016

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

scientific article

Contribution of 24 obesity-associated genetic variants to insulin resistance, pancreatic beta-cell function and type 2 diabetes risk in the French population

scientific article published on 23 October 2012

Contribution of the low-frequency, loss-of-function p.R270H mutation in FFAR4 (GPR120) to increased fasting plasma glucose levels

scientific article published on 29 May 2015

Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican Children

scientific article published on 27 March 2017

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 23 August 2017

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

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

scientific article

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

Disentangling the Role of Melatonin and its Receptor MTNR1B in Type 2 Diabetes: Still a Long Way to Go?

scientific article published on 23 October 2017

Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.

scientific article

Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human

scientific journal article

Eating Behavior, Low-Frequency Functional Mutations in the Melanocortin-4 Receptor (MC4R) Gene, and Outcomes of Bariatric Operations: A 6-Year Prospective Study

scientific article

Endoplasmic Reticulum Stress Links Oxidative Stress to Impaired Pancreatic Beta-Cell Function Caused by Human Oxidized LDL

scientific article

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

scientific article

Erratum: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

article

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article published in May 2010

Expression and functional assessment of candidate type 2 diabetes susceptibility genes identify four new genes contributing to human insulin secretion

scientific article

G-allele of intronic rs10830963 in MTNR1B confers increased risk of impaired fasting glycemia and type 2 diabetes through an impaired glucose-stimulated insulin release: studies involving 19,605 Europeans

scientific article published on 26 March 2009

GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes

scientific article published on 18 July 2012

Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation.

scientific article published on 25 July 2017

Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation.

scientific article published on 7 March 2018

Genetic and functional assessment of the role of the rs13431652-A and rs573225-A alleles in the G6PC2 promoter that are strongly associated with elevated fasting glucose levels.

scientific article published on 9 July 2010

Genetic evidence of assortative mating in humans

article

Genetic variant in HK1 is associated with a proanemic state and A1C but not other glycemic control-related traits

scientific article published on 03 August 2009

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

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

scientific journal article

Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

scientific article published on 24 November 2015

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

scientific article

Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 27 April 2017

High Prevalence of Rare Monogenic Forms of Obesity in Obese Guadeloupean Afro-Caribbean Children

scientific article published on 5 December 2017

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing

scientific article published on 16 September 2013

Historical Overview of Gene Discovery Methodologies in Type 2 Diabetes

article

How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young

scientific article published on 05 August 2019

Human mutation within Per-Arnt-Sim (PAS) domain-containing protein kinase (PASK) causes basal insulin hypersecretion.

scientific article published on 7 November 2011

Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay

scientific article published on 19 September 2014

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.

scientific article published on 12 September 2017

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

scientific article published on 23 August 2016

Impaired histone deacetylases 5 and 6 expression mimics the effects of obesity and hypoxia on adipocyte function

scientific article published on 05 October 2016

Increased Hepatic PDGF-AA Signaling Mediates Liver Insulin Resistance in Obesity Associated Type 2 Diabetes.

scientific article

Inputs from the genetics of fasting glucose: lessons for diabetes

scientific article published in November 2009

Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention

scientific article

Interaction between GPR120 p.R270H loss-of-function variant and dietary fat intake on incident type 2 diabetes risk in the D.E.S.I.R. study

scientific article published on 25 April 2016

KAT2B Is Required for Pancreatic Beta Cell Adaptation to Metabolic Stress by Controlling the Unfolded Protein Response

scientific article published on 20 April 2016

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

scientific article

Laser capture microdissection of human pancreatic islets reveals novel eQTLs associated with type 2 diabetes

Loss-of-function mutations in ADCY3 cause monogenic severe obesity

scientific article published on 8 January 2018

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features

scientific article published on 17 June 2013

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

scientific article published on 30 March 2014

MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue

scientific article published on 25 July 2018

MTNR1B G24E variant associates With BMI and fasting plasma glucose in the general population in studies of 22,142 Europeans

scientific article

MYEOV is a prognostic factor in multiple myeloma

scientific article published on 18 September 2010

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

scientific article

Multiple functional polymorphisms in the G6PC2 gene contribute to the association with higher fasting plasma glucose levels

scientific article

Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction

scientific article published on 24 February 2009

NACHO: an R package for quality control of NanoString nCounter data

scientific article published on 01 February 2020

Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections

scientific article published in June 2008

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].

scientific article

New gene functions in megakaryopoiesis and platelet formation

scientific article published on 30 November 2011

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article

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

scientific article published on February 2016

Next-generation sequencing for identifying new genes in rare genetic diseases: many challenges and a pinch of luck ⬇️

scientific article published on July 29, 2013

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

scientific article

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study

scientific article published on 28 November 2016

Pathogenic variants in actionable MODY genes are associated with type 2 diabetes

scientific article published on 12 October 2020

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

scientific article published on 29 October 2019

Pluripotent stem cells as a potential tool for disease modelling and cell therapy in diabetes.

scientific article published on June 2014

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

scientific article published on 29 January 2012

Rare and common genetic events in type 2 diabetes: what should biologists know?

scientific article

Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes.

scientific article published on 6 December 2012

Relationship between salivary/pancreatic amylase and body mass index: a systems biology approach

scientific article

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

scientific article

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

scientific article

Studies of a genetic variant in HK1 in relation to quantitative metabolic traits and to the prevalence of type 2 diabetes

scientific article

The Difficult Journey from Genome-wide Association Studies to Pathophysiology: The Melatonin Receptor 1B (MT2) Paradigm

scientific article published in September 2016

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

The Relationship Between Vascular Endothelial Growth Factor Cis- and Trans-Acting Genetic Variants and Metabolic Syndrome

scientific article published in June 2018

The case for too little melatonin signalling in increased diabetes risk

scientific article

The emerging genetics of type 2 diabetes

scientific article published on 20 August 2010

The expression of genes in top obesity-associated loci is enriched in insula and substantia nigra brain regions involved in addiction and reward

scientific article published on 06 August 2019

The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis

scientific article published on April 2012

The loss-of-function PCSK9 p.R46L genetic variant does not alter glucose homeostasis

scientific article published on 7 June 2015

Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous family

scientific article

Transcriptomic Analysis of Breast Cancer Stem Cells and Development of a pALDH1A1:mNeptune Reporter System for Live Tracking

scientific article published on 08 September 2019

Type 2 diabetes-related genetic risk scores associated with variations in fasting plasma glucose and development of impaired glucose homeostasis in the prospective DESIR study

scientific article published on 4 June 2014

Type 2 diabetes–associated variants of the MT2melatonin receptor affect distinct modes of signaling

What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?

scientific article published on 23 November 2015

What is the contribution of two genetic variants regulating VEGF levels to type 2 diabetes risk and to microvascular complications?

scientific article

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene

scientific article

List of works by Amélie Bonnefond

A Novel Rare Missense Variation of the Gene: Evidencesof Implication in Crohn's Disease

A common variant highly associated with plasma VEGFA levels also contributes to the variation of both LDL-C and HDL-C.

A genome-wide association search for type 2 diabetes genes in African Americans

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

A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.

A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity

A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome.

A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity

A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk

Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4R genes to obesity in Mexican children.

Association between large detectable clonal mosaicism and type 2 diabetes with vascular complications

Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults

Associations Between Type 2 Diabetes-Related Genetic Scores and Metabolic Traits, in Obese and Normal-Weight Youths.

Associations of vascular endothelial growth factor (VEGF) with adhesion and inflammation molecules in a healthy population

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

Cdkn2a deficiency promotes adipose tissue browning

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.

Combined RNAseq and ChIPseq Analyses of the BvgA Virulence Regulator of Bordetella pertussis

Comment on Beltrand et al. Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations. Diabetes Care 2015;38:2033-2041.

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

Contribution of 24 obesity-associated genetic variants to insulin resistance, pancreatic beta-cell function and type 2 diabetes risk in the French population

Contribution of the low-frequency, loss-of-function p.R270H mutation in FFAR4 (GPR120) to increased fasting plasma glucose levels

Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican Children

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

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

Directional dominance on stature and cognition in diverse human populations

Disentangling the Role of Melatonin and its Receptor MTNR1B in Type 2 Diabetes: Still a Long Way to Go?

Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.

Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human

Eating Behavior, Low-Frequency Functional Mutations in the Melanocortin-4 Receptor (MC4R) Gene, and Outcomes of Bariatric Operations: A 6-Year Prospective Study

Endoplasmic Reticulum Stress Links Oxidative Stress to Impaired Pancreatic Beta-Cell Function Caused by Human Oxidized LDL

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

Erratum: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Expression and functional assessment of candidate type 2 diabetes susceptibility genes identify four new genes contributing to human insulin secretion

G-allele of intronic rs10830963 in MTNR1B confers increased risk of impaired fasting glycemia and type 2 diabetes through an impaired glucose-stimulated insulin release: studies involving 19,605 Europeans

GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes

Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation.

Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation.

Genetic and functional assessment of the role of the rs13431652-A and rs573225-A alleles in the G6PC2 promoter that are strongly associated with elevated fasting glucose levels.

Genetic evidence of assortative mating in humans

Genetic variant in HK1 is associated with a proanemic state and A1C but not other glycemic control-related traits

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

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

High Prevalence of Rare Monogenic Forms of Obesity in Obese Guadeloupean Afro-Caribbean Children

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing

Historical Overview of Gene Discovery Methodologies in Type 2 Diabetes

How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young

Human mutation within Per-Arnt-Sim (PAS) domain-containing protein kinase (PASK) causes basal insulin hypersecretion.

Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.

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

Impaired histone deacetylases 5 and 6 expression mimics the effects of obesity and hypoxia on adipocyte function

Increased Hepatic PDGF-AA Signaling Mediates Liver Insulin Resistance in Obesity Associated Type 2 Diabetes.

Inputs from the genetics of fasting glucose: lessons for diabetes

Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention

Interaction between GPR120 p.R270H loss-of-function variant and dietary fat intake on incident type 2 diabetes risk in the D.E.S.I.R. study

KAT2B Is Required for Pancreatic Beta Cell Adaptation to Metabolic Stress by Controlling the Unfolded Protein Response

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Laser capture microdissection of human pancreatic islets reveals novel eQTLs associated with type 2 diabetes

Loss-of-function mutations in ADCY3 cause monogenic severe obesity

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features

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

MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue

MTNR1B G24E variant associates With BMI and fasting plasma glucose in the general population in studies of 22,142 Europeans

MYEOV is a prognostic factor in multiple myeloma

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

Multiple functional polymorphisms in the G6PC2 gene contribute to the association with higher fasting plasma glucose levels

Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction

NACHO: an R package for quality control of NanoString nCounter data

Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].

New gene functions in megakaryopoiesis and platelet formation

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

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