J. Deleuze

发表

Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer ' s disease

D. G. Clark, M. Fornage, A. Hofman, 2022 .

Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

J. Gallacher, M. Fornage, I. Giegling, 2018, bioRxiv.

Elevated plasma Complement Factor H Regulating Protein 5 is associated with venous thromboembolism and COVID-19 severity

T. Renné, D. Tregouet, J. Odeberg, 2022, medRxiv.

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

I. Nelson, F. Chapon, I. Richard, 2018, European journal of neurology.

Genome-wide association study of a semicontinuous trait: Illustration of the impact of the modeling strategy through the study of Neutrophil Extracellular Traps levels

H. Jacqmin-Gadda, P. Morange, C. Proust, 2022, medRxiv.

Antithrombin, protein C and protein S: Genome and transcriptome wide association studies identify 7 novel loci regulating plasma levels

D. A. Dobson, J. Pankow, D. Tregouet, 2022, medRxiv.

Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability.

R. Redon, A. Toutain, A. Boland, 2018, Clinica chimica acta; international journal of clinical chemistry.

Genetic association studies of fibromuscular dysplasia identify new risk loci and shared genetic basis with more common vascular diseases

Lu Liu, P. Amouyel, M. Zawistowski, 2020, medRxiv.

Genetic analysis of lung cancer reveals novel susceptibility loci and germline impact on somatic mutation burden

C. Amos, V. Gaborieau, M. Johansson, 2021, medRxiv.

Rare coding variants in CTSO, a potential new actor of arterial remodeling, are associated to familial intracranial aneurysm

R. Redon, C. Dina, S. Chatel, 2023, medRxiv.

Doublecortin mutation leads to persistent defects in the Golgi apparatus and mitochondria in adult hippocampal pyramidal cells

M. Nosten-Bertrand, C. Cifuentes-Díaz, R. Olaso, 2022, Neurobiology of Disease.

Variations in the APP gene promoter region and risk of Alzheimer disease

J. Lambert, P. Amouyel, D. Campion, 2007, Neurology.

Selective silencing rather than targeted activation of gene expression underlies fate choice in human hematopoietic stem cells

S. Ravi, A. Páldi, D. Stockholm, 2020, bioRxiv.

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

A. Toutain, N. Philip, P. Jouk, 2023, BMC Health Services Research.

Protective effects of HLA-DRB1*04 subtypes in Parkinson's and Alzheimer's diseases implicate acetylated Tau PHF6 sequences

Michaël E. Belloy, W. M. van der Flier, D. Rujescu, 2021, medRxiv.