| Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing BW Kunkle, B Grenier-Boley, R Sims, JC Bis, V Damotte, AC Naj, ... Nature genetics 51 (3), 414-430, 2019 | 2420 | 2019 |
| 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 | 1243 | 2022 |
| APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases HM Lanoiselée, G Nicolas, D Wallon, A Rovelet-Lecrux, M Lacour, ... PLoS medicine 14 (3), e1002270, 2017 | 550 | 2017 |
| Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice A Keller, A Westenberger, MJ Sobrido, M Garcia-Murias, A Domingo, ... Nature genetics 45 (9), 1077-1082, 2013 | 323 | 2013 |
| Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification G Nicolas, C Pottier, D Maltête, S Coutant, A Rovelet-Lecrux, S Legallic, ... Neurology, 10.1212/WNL. 0b013e31827ccf34, 2012 | 303 | 2012 |
| Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export A Legati, D Giovannini, G Nicolas, U López-Sánchez, B Quintáns, ... Nature genetics 47 (6), 579-581, 2015 | 286 | 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 | 249 | 2020 |
| Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders E Aref-Eshghi, J Kerkhof, VP Pedro, M Barat-Houari, N Ruiz-Pallares, ... The American Journal of Human Genetics 106 (3), 356-370, 2020 | 239 | 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 | 230 | 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 | 215 | 2021 |
| SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis I Le Ber, A Camuzat, R Guerreiro, K Bouya-Ahmed, J Bras, G Nicolas, ... JAMA neurology 70 (11), 1403-1410, 2013 | 201 | 2013 |
| Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1 and ABCA7 in 1,779 cases and 1,273 controls C Bellenguez, C Charbonnier, B Grenier-Boley, O Quenez, K Le Guennec, ... Neurobiology of Aging, 2017 | 178 | 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, 2015 | 138 | 2015 |
| Seizures in dominantly inherited Alzheimer disease A Zarea, C Charbonnier, A Rovelet-Lecrux, G Nicolas, S Rousseau, ... Neurology 87 (9), 912-919, 2016 | 116 | 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 | 105 | 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 | 102 | 2015 |
| 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 | 97 | 2022 |
| 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 | 97 | 2019 |
| TYROBP genetic variants in early-onset Alzheimer's disease C Pottier, TA Ravenscroft, PH Brown, NCA Finch, M Baker, M Parsons, ... Neurobiology of Aging 48, 222. e9-222. e15, 2016 | 93 | 2016 |
| 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 | 93 | 2015 |
