Deleuze, Jean-François

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., et al. (2022) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 2,498

Analysis of shared heritability in common disorders of the brain

The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., et al. (2018) · Science

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,924

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., et al. (2016) · Nature Genetics

Retinal Diseases and TreatmentsGenetic Associations and Epidemiology

Cited by 1,544

Insights into human genetic variation and population history from 929 diverse genomes

Bergström, A., McCarthy, S. A., Hui, R., Almarri, M. A., Ayub, Q., Danecek, P., Chen, Y., Felkel, S., Hallast, P., Kamm, J., et al. (2020) · Science

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 1,020

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

ARUK Consortium, Sims, R., GERAD/PERADES, C., van der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., et al. (2017) · Nature Genetics

Alzheimer's disease research and treatmentsNeuroinflammation and Neurodegeneration Mechanisms

Cited by 1,012

Genetic adaptation and Neandertal admixture shaped the immune system of human populations

Quach, H., Rotival, M., Pothlichet, J., Loh, Y.-H. E., Dannemann, M., Zidane, N., Laval, G., Patin, E., Harmant, C., Lopez, M., et al. (2016) · Cell

Genetic Associations and EpidemiologyEvolution and Genetic Dynamics

Cited by 475

A meta-analysis of genome-wide association studies identifies multiple longevity genes

Deelen, J., Evans, D. S., Arking, D. E., Tesi, N., Nygaard, M., Liu, X., Wojczynski, M. K., Biggs, M. L., van der Spek, A., Atzmon, G., et al. (2019) · Nature Communications

Genetic Associations and EpidemiologyGenetics, Aging, and Longevity in Model Organisms

Cited by 370

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

de Rojas, I., Moreno-Grau, S., Tesi, N., Grenier-Boley, B., Andrade, V., Jansen, I. E., Pedersen, N. L., Stringa, N., Zettergren, A., Hernández, I., et al. (2021) · Nature Communications

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 324

Modulation of astrocyte reactivity improves functional deficits in mouse models of Alzheimer’s disease

Ceyzériat, K., Ben Haim, L., Denizot, A., Pommier, D., Matos, M., Guillemaud, O., Palomares, M.-A., Abjean, L., Petit, F., Gipchtein, P., et al. (2018) · Acta Neuropathologica Communications

Neuroinflammation and Neurodegeneration MechanismsAlzheimer's disease research and treatments

Cited by 256

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

Bis, J. C., Jian, X., Kunkle, B. W., Chen, Y., Hamilton-Nelson, K. L., Bush, W. S., Salerno, W. J., Lancour, D., Ma, Y., Renton, A. E., et al. (2020) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 248

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

Coutton, C., Vargas, A. S., Amiri-Yekta, A., Kherraf, Z.-E., Ben Mustapha, S. F., Le Tanno, P., Wambergue-Legrand, C., Karaouzène, T., Martinez, G., Crouzy, S., et al. (2018) · Nature Communications

Sperm and Testicular FunctionCystic Fibrosis Research Advances

Cited by 245

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Holstege, H., Hulsman, M., Charbonnier, C., Grenier-Boley, B., Quenez, O., Grozeva, D., van Rooij, J. G. J., Sims, R., Ahmad, S., Amin, N., et al. (2022) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 226

Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism

Lindström, S., Wang, L., Smith, E. N., Gordon, W., van Hylckama Vlieg, A., de Andrade, M., Brody, J. A., Pattee, J. W., Haessler, J., Brumpton, B. M., et al. (2019) · Blood

Genetic Associations and EpidemiologyBlood Coagulation and Thrombosis Mechanisms

Cited by 223

Genomic insights into population history and biological adaptation in Oceania

Choin, J., Mendoza-Revilla, J., Arauna, L. R., Cuadros-Espinoza, S., Cassar, O., Larena, M., Ko, A. M.-S., Harmant, C., Laurent, R., Verdu, P., et al. (2021) · Nature

Forensic and Genetic ResearchPacific and Southeast Asian Studies

Cited by 208

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Uggenti, C., Lepelley, A., Depp, M., Badrock, A. P., Rodero, M. P., El-Daher, M.-T., Rice, G. I., Dhir, S., Wheeler, A. P., Dhir, A., et al. (2020) · Nature Genetics

interferon and immune responsesInflammasome and immune disorders

Cited by 192

Histone variant H2A.J accumulates in senescent cells and promotes inflammatory gene expression

Contrepois, K., Coudereau, C., Benayoun, B. A., Schuler, N., Roux, P.-F., Bischof, O., Courbeyrette, R., Carvalho, C., Thuret, J.-Y., Ma, Z., et al. (2017) · Nature Communications

Telomeres, Telomerase, and SenescenceGenomics and Chromatin Dynamics

Cited by 191

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

Bellenguez, C., Charbonnier, C., Grenier-Boley, B., Quenez, O., Le Guennec, K., Nicolas, G., Chauhan, G., Wallon, D., Rousseau, S., Richard, A. C., et al. (2017) · Neurobiology of Aging

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 166

A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers

Ferrari, A., Vincent-Salomon, A., Pivot, X., Sertier, A.-S., Thomas, E., Tonon, L., Boyault, S., Mulugeta, E., Treilleux, I., MacGrogan, G., et al. (2016) · Nature Communications

HER2/EGFR in Cancer ResearchCancer Genomics and Diagnostics

Cited by 150

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease

Nicolas, G., Charbonnier, C., Wallon, D., Quenez, O., Bellenguez, C., Grenier-Boley, B., Rousseau, S., Richard, A.-C., Rovelet-Lecrux, A., Le Guennec, K., et al. (2016) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 129

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes

Bruel, A.-L., Franco, B., Duffourd, Y., Thevenon, J., Jego, L., Lopez, E., Deleuze, J.-F., Doummar, D., Giles, R. H., Johnson, C. A., et al. (2017) · Journal of Medical Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 115

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

Rovelet-Lecrux, A., Charbonnier, C., Wallon, D., Nicolas, G., Seaman, M. N. J., Pottier, C., Breusegem, S. Y., Mathur, P. P., Jenardhanan, P., Le Guennec, K., et al. (2015) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 106

Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease

Le Guen, Y., Belloy, M. E., Grenier-Boley, B., de Rojas, I., Castillo-Morales, A., Jansen, I., Nicolas, A., Bellenguez, C., Dalmasso, C., Küçükali, F., et al. (2022) · JAMA Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 93

ABCA7 rare variants and Alzheimer disease risk

Le Guennec, K., Nicolas, G., Quenez, O., Charbonnier, C., Wallon, D., Bellenguez, C., Grenier-Boley, B., Rousseau, S., Richard, A.-C., Rovelet-Lecrux, A., et al. (2016) · Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 69

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Kröll‐Hermi, A., Ebstein, F., Stoetzel, C., Geoffroy, V., Schaefer, E., Scheidecker, S., Bär, S., Takamiya, M., Kawakami, K., Zieba, B. A., et al. (2020) · EMBO Molecular Medicine

Ubiquitin and proteasome pathwaysGenetic Neurodegenerative Diseases

Cited by 65