Anne‐Claire Richard

Author

Anne‐Claire Richard

Also Known As

Ann-Kathrin Richard, Anne Rovelet-Lecrux, Anne-Claire Richard, Anne‐Claire Richard, Franco Taroni, Marcel J. T. Reinders, Marcel J.T. Reinders, Richard A. Spritz (256023), Richard, Anne Claire, Thierry Frebourg

Publications

2.1K

Citations

H-Index

Concepts

All Affiliations

Inserm Université de Rouen Normandie Normandie Université Centre Hospitalier du Rouvray Commissariat à l'Énergie Atomique et aux Énergies Alternatives

About

Anne‐Claire Richard is an author at Inserm specializing in medicine, neurology, and neuroscience.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	3	3	192
2	Neurology	3	3	192
3	Engineering	1	1	41
4	Biostatistics	1	1	41
5	Data Science	1	1	41

Anne‐Claire Richard

Publications

1.6K

Citations

H-Index

Page 1

	Year	Citations
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, PLoS Medicine	2017	583
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease Henne Holstege, Marc Hulsman, Camille Charbonnier, Nature Genetics	2022	206
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, American Journal of Medical Genetics Part B Neuropsychiatric Genetics	2015	96
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons Gaël Nicolas, David Wallon, Camille Charbonnier, European Journal of Human Genetics SequencingAlzheimer's DiseaseWhole-exome SequencingDementiaGenetics	2015	94
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease Gaël Nicolas, Rocío Acuña‐Hidalgo, Michael J. Keogh, Alzheimer s & Dementia	2018	77
XPR1 mutations are a rare cause of primary familial brain calcification Mathieu Anheim, Uriel López-Sánchez, Donatella Giovannini, Journal of Neurology Rare CauseMendelian DisorderNeurological DisorderGenetic DisorderGenetics	2016	74
Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype Lou Grangeon, David Wallon, Camille Charbonnier, Brain	2019	65
Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer’s Disease Before 51 Years Morgane Lacour, Olivier Quenez, Anne Rovelet‐Lecrux, Journal of Alzheimer s Disease	2019	50
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation Olivier Quenez, Kévin Cassinari, Sophie Coutant, European Journal of Human Genetics Read Depth InformationEngineeringData ScienceMeasurementNgs Data	2020	41
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications Viorica Chelban, Henriette Aksnes, Reza Maroofian, Nature Communications	2024	41

Page 1