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List of works by Amélie Bonnefond

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

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

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

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

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

scientific article
New gene functions in megakaryopoiesis and platelet formation

scientific article published on 30 November 2011
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

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

scientific article published on 29 January 2012
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

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

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

scientific article published on 24 November 2015
PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study

scientific article published on 28 November 2016
A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012
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
The emerging genetics of type 2 diabetes

scientific article published on 20 August 2010
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
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
Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene

scientific article
Rare and Common Genetic Events in Type 2 Diabetes: What Should Biologists Know?

scientific article published on January 29, 2015
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

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

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

scientific article published on 17 June 2013
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
Association between large detectable clonal mosaicism and type 2 diabetes with vascular complications

scientific article published on 14 July 2013
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
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
Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4R genes to obesity in Mexican children.

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

scientific article
Genetic evidence of assortative mating in humans

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

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

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

scientific article published on April 2012
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
Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous family

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

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

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

scientific article published on 18 July 2012
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
The loss-of-function PCSK9 p.R46L genetic variant does not alter glucose homeostasis

scientific article published on 7 June 2015
Multiple functional polymorphisms in the G6PC2 gene contribute to the association with higher fasting plasma glucose levels

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

scientific article published on 03 June 2014
MTNR1B G24E variant associates With BMI and fasting plasma glucose in the general population in studies of 22,142 Europeans

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

scientific article

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