Anne‐Claire Richard

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

Hélène-Marie Lanoiselée, Gaël Nicolas, David Wallon et al. · PLoS Medicine · 2017 · 583 citations · Full text

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

Henne Holstege, Marc Hulsman, Camille Charbonnier et al. · Nature Genetics · 2022 · 206 citations · Full text

Brain calcification process and phenotypes according to age and sex: Lessons from <i>SLC20A2</i>, <i>PDGFB</i>, and <i>PDGFRB</i> mutation carriers

Gaël Nicolas, Camille Charbonnier, Roberta R. Lemos et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2015 · 96 citations

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

Gaël Nicolas, David Wallon, Camille Charbonnier et al. · European Journal of Human Genetics · 2015 · 94 citations · Full text

Sequencing, Alzheimer's Disease, Whole-exome Sequencing +13

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease

Gaël Nicolas, Rocío Acuña‐Hidalgo, Michael J. Keogh et al. · Alzheimer s & Dementia · 2018 · 77 citations · Full text