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List of works by Amélie Bonnefond

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

scientific article (publication date: 2012)
Pluripotent stem cells as a potential tool for disease modelling and cell therapy in diabetes.

scientific article published on June 2014
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
Expression and functional assessment of candidate type 2 diabetes susceptibility genes identify four new genes contributing to human insulin secretion

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

scientific article published on 8 January 2018
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
Associations of vascular endothelial growth factor (VEGF) with adhesion and inflammation molecules in a healthy population

scientific article published on 30 November 2012
The case for too little melatonin signalling in increased diabetes risk

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

scientific article published on 7 November 2011
The Difficult Journey from Genome-wide Association Studies to Pathophysiology: The Melatonin Receptor 1B (MT2) Paradigm

scientific article published in September 2016
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
Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article published in May 2010
MYEOV is a prognostic factor in multiple myeloma

scientific article published on 18 September 2010
Increased Hepatic PDGF-AA Signaling Mediates Liver Insulin Resistance in Obesity Associated Type 2 Diabetes

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

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

scientific article published on 20 April 2016
Disentangling the Role of Melatonin and its Receptor MTNR1B in Type 2 Diabetes: Still a Long Way to Go?

scientific article published on October 23, 2017
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
Type 2 diabetes-associated variants of the MT melatonin receptor affect distinct modes of signaling

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

scientific article published on 05 October 2016
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
What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?

scientific article published on 23 November 2015
High Prevalence of Rare Monogenic Forms of Obesity in Obese Guadeloupean Afro-Caribbean Children

scientific article published on 5 December 2017
Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 23 August 2017
Impact of statistical models on the prediction of type 2 diabetes using non-targeted metabolomics profiling

scientific article published on 23 August 2016
Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay

scientific article published on 19 September 2014
Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections

scientific article published in June 2008
Studies of a genetic variant in HK1 in relation to quantitative metabolic traits and to the prevalence of type 2 diabetes

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

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

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

scientific article published in June 2018
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
A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome.

scientific article
Cdkn2a deficiency promotes adipose tissue browning

scientific article published in December 2017
A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity

scientific article published on 01 October 2019
Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction

scientific article published on 24 February 2009
Erratum: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

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

scientific article published on 29 October 2019
Inputs from the genetics of fasting glucose: lessons for diabetes

scientific article published in November 2009
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
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
A Novel Rare Missense Variation of the Gene: Evidencesof Implication in Crohn's Disease

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

scientific article published on 25 July 2018
Erratum: Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.

scientific article
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
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
Multiple genetic variants at the SLC30A8 locus affect local super‐enhancer activity and influence pancreatic β‐cell survival and function

scientific article published on 25 April 2024

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