Charbonnier, Camille

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

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

Bougeard, G., Renaux-Petel, M., Flaman, J.-M., Charbonnier, C., Fermey, P., Belotti, M., Gauthier-Villars, M., Stoppa-Lyonnet, D., Consolino, E., Brugières, L., et al. (2015) · Journal of Clinical Oncology

Cancer-related Molecular PathwaysMultiple and Secondary Primary Cancers

Cited by 760

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

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

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

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

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

SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data

Campion, D., Charbonnier, C., & Nicolas, G. (2019) · Acta Neuropathologica

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 124

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

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

PLCG2 downregulation impairs synaptic function and increases Alzheimer’s disease hallmarks in neuronal cultures

Coulon, A., Rabiller, F., Takalo, M., Roy, A., Pelletier, A., Martiskainen, H., Siedlecki-Wullich, D., Lannette-Weimann, N., Majerníková, N., Grenon, A., et al. (2026) · Nature Genetics

Alzheimer's disease research and treatmentsNeuroscience and Neuropharmacology Research

Cited by 1