New insights into the genetic etiology of Alzheimer’s disease and related dementias C Bellenguez, F Küçükali, IE Jansen, L Kleineidam, S Moreno-Grau, ... Nature genetics 54 (4), 412-436, 2022 | 891 | 2022 |
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers G Bougeard, M Renaux-Petel, JM Flaman, C Charbonnier, P Fermey, ... Journal of Clinical Oncology 33 (21), 2345-2352, 2015 | 650 | 2015 |
Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation JC Bis, X Jian, BW Kunkle, Y Chen, KL Hamilton-Nelson, WS Bush, ... Molecular psychiatry 25 (8), 1859-1875, 2020 | 235 | 2020 |
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification G Nicolas, C Pottier, C Charbonnier, L Guyant-Maréchal, I Le Ber, ... Brain 136 (11), 3395-3407, 2013 | 220 | 2013 |
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores I De Rojas, S Moreno-Grau, N Tesi, B Grenier-Boley, V Andrade, ... Nature communications 12 (1), 3417, 2021 | 177 | 2021 |
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls C Bellenguez, C Charbonnier, B Grenier-Boley, O Quenez, K Le Guennec, ... Neurobiology of aging 59, 220. e1-220. e9, 2017 | 161 | 2017 |
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease G Nicolas, C Charbonnier, D Wallon, O Quenez, C Bellenguez, ... Molecular psychiatry 21 (6), 831-836, 2016 | 133 | 2016 |
Seizures in dominantly inherited Alzheimer disease A Zarea, C Charbonnier, A Rovelet-Lecrux, G Nicolas, S Rousseau, ... Neurology 87 (9), 912-919, 2016 | 106 | 2016 |
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons G Nicolas, D Wallon, C Charbonnier, O Quenez, S Rousseau, AC Richard, ... European Journal of Human Genetics 24 (5), 710-716, 2016 | 100 | 2016 |
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease A Rovelet-Lecrux, C Charbonnier, D Wallon, G Nicolas, MNJ Seaman, ... Molecular psychiatry 20 (9), 1046-1056, 2015 | 99 | 2015 |
SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data D Campion, C Charbonnier, G Nicolas Acta neuropathologica 138 (2), 173-186, 2019 | 94 | 2019 |
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers G Nicolas, C Charbonnier, RR de Lemos, AC Richard, O Guillin, D Wallon, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 168 …, 2015 | 89 | 2015 |
ABCA7 rare variants and Alzheimer disease risk K Le Guennec, G Nicolas, O Quenez, C Charbonnier, D Wallon, ... Neurology 86 (23), 2134-2137, 2016 | 79 | 2016 |
Weighted-LASSO for structured network inference from time course data C Charbonnier, J Chiquet, C Ambroise Statistical applications in genetics and molecular biology 9 (1), 2010 | 72 | 2010 |
New insights on the genetic etiology of Alzheimer’s and related dementia C Bellenguez, F Küçükali, I Jansen, V Andrade, S Moreno-Grau, N Amin, ... MedRxiv, 2020.10. 01.20200659, 2020 | 71 | 2020 |
17q21. 31 duplication causes prominent tau-related dementia with increased MAPT expression K Le Guennec, O Quenez, G Nicolas, D Wallon, S Rousseau, AC Richard, ... Molecular Psychiatry 22 (8), 1119-1125, 2017 | 70 | 2017 |
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease H Holstege, M Hulsman, C Charbonnier, B Grenier-Boley, O Quenez, ... Nature genetics 54 (12), 1786-1794, 2022 | 69 | 2022 |
Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype L Grangeon, D Wallon, C Charbonnier, O Quenez, AC Richard, ... Brain 142 (6), 1573-1586, 2019 | 52 | 2019 |
Contribution of genotoxic anticancer treatments to the development of multiple primary tumours in the context of germline TP53 mutations E Kasper, E Angot, E Colasse, L Nicol, JC Sabourin, S Adriouch, ... European journal of cancer 101, 254-262, 2018 | 46 | 2018 |
From common to rare variants: the genetic component of Alzheimer disease G Nicolas, C Charbonnier, D Campion Human heredity 81 (3), 129-141, 2017 | 44 | 2017 |