APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic casesHélène-Marie Lanoiselée, Gaël Nicolas, David Wallon et al.|PLoS Medicine|2017Cited by 610
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental DisordersErfan Aref‐Eshghi, Jennifer Masters, Christèle Dubourg et al.|The American Journal of Human Genetics|2020Cited by 334
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)Gabriella Vera, Anne‐Marie Guerrot, Arthur Sorlin et al.|European Journal of Medical Genetics|2020Cited by 13
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamicsGaël Nicolas, Chantelle F. Sephton|Acta Neuropathologica Communications|2022Cited by 9
Neuronal downregulation of PLCG2 impairs synaptic function and elicits Alzheimer disease hallmarksJean‐Charles Lambert, Julie Dumont, Audrey Coulon et al.|Research Square|2024Cited by 1