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Anne‐Claire Richard

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases
2017 · Hélène-Marie Lanoiselée, Gaël Nicolas, et al. · PLoS Medicine · 614
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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
2015 · Andrea Legati, Donatella Giovannini, et al. · Nature Genetics · 314
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TREM2 R47H Variant as a Risk Factor for Early-Onset Alzheimer's Disease
2013 · Cyril Pottier, GMAJ/COMAJ collaborators, et al. · Journal of Alzheimer s Disease · 164
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2 , PDGFB , and PDGFRB mutation carriers
2015 · Gaël Nicolas, Camille Charbonnier, et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 101
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons
2015 · Gaël Nicolas, David Wallon, et al. · European Journal of Human Genetics · 96
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TYROBP genetic variants in early-onset Alzheimer's disease
2016 · Cyril Pottier, Thomas A. Ravenscroft, et al. · Neurobiology of Aging · 94
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease
2018 · Gaël Nicolas, Rocío Acuña‐Hidalgo, et al. · Alzheimer s & Dementia · 80
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XPR1 mutations are a rare cause of primary familial brain calcification
2016 · Mathieu Anheim, Uriel López-Sánchez, et al. · Journal of Neurology · 75
Primary brain calcification: an international study reporting novel variants and associated phenotypes
2018 · The French PFBC study group, Eliana Marisa Ramos, et al. · European Journal of Human Genetics · 73
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Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype
2019 · Lou Grangeon, David Wallon, et al. · Brain · 70
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ABCA7 rare variants and Alzheimer disease risk
2016 · Kilan Le Guennec, Gaël Nicolas, et al. · Neurology · 70
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
2025 · Caroline Nava, Benjamin Cogne, et al. · Nature Genetics · 56
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Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer’s Disease Before 51 Years
2019 · Morgane Lacour, Olivier Quenez, et al. · Journal of Alzheimer s Disease · 54
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
2020 · Olivier Quenez, Kevin Cassinari, et al. · European Journal of Human Genetics · 46
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Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
2024 · Viorica Chelban, Henriette Aksnes, et al. · Nature Communications · 44
Mutation in the 3’untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy
2015 · Gaël Nicolas, David Wallon, et al. · European Journal of Human Genetics · 35
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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
2023 · Thomas Husson, François Lecoquierre, et al. · European Journal of Human Genetics · 31
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Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
2020 · Thomas Husson, François Lecoquierre, et al. · Translational Psychiatry · 29
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Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification
2019 · Uriel López-Sánchez, Gaël Nicolas, et al. · Scientific Reports · 29
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Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient
2018 · Kilan Le Guennec, Hélène Tubeuf, et al. · Journal of Alzheimer s Disease · 29
Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.
2017 · Gaël Manes, Sonia Mamouni, et al. · PubMed · 28
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
2022 · Catherine Schramm, Camille Charbonnier, et al. · Genome Medicine · 26
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Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing
2016 · Stéphanie David, Joana Ferreira, et al. · European Journal of Human Genetics · 26
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Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening
2024 · Gaël Nicolas, Aline Zaréa, et al. · Genetics in Medicine · 25
Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing
2018 · Thomas Husson, Jean-Baptiste Duboc, et al. · Translational Psychiatry · 21
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Works count: 48
Citation count: 2,427
H-index: 25
I10-index: 31
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