K. Le Guennec

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

R. Redon, N. Drouot, J. Dartigues, 2020, European Journal of Human Genetics.

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

A. Montpetit, G. Bourque, J. Pariente, 2015, European Journal of Human Genetics.

End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy

G. Marenne, C. Aloui, H. Chabriat, 2021, Annals of neurology.

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

R Redon, R. Redon, M. Bihoreau, 2017, Molecular Psychiatry.

ABCA7 rare variants and Alzheimer disease risk

R. Redon, G. Bourque, E. Génin, 2016, Neurology.

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease

R. Redon, G. Bourque, E. Génin, 2016, Molecular Psychiatry.

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

R. Redon, N. Drouot, J. Dartigues, 2020, European Journal of Human Genetics.

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

D. Campion, D. Hannequin, D. Wallon, 2018, Journal of Alzheimer's disease : JAD.