Aurore Garde - Concepedia

Author

Aurore Garde

Also Known As

A GARDE, A Garde, A. Garde, Aurore Garde, Bénédicte Gérard, Caroline Racine, Daphné Lehalle, Garde, A., Livia Garavelli, Mathieu Fusaro

Publications

572

Citations

H-Index

Concepts

All Affiliations

CHU Dijon Bourgogne Inserm Université de Bourgogne Génétique Médicale & Génomique Fonctionelle Assistance Publique – Hôpitaux de Paris

About

Aurore Garde is an author at CHU Dijon Bourgogne specializing in medicine, bioinformatics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	164
2	Health Sciences	1	1	19
3	Public Health	1	1	19
4	Biostatistics	1	1	19
5	Cell Biology	1	1	39

Aurore Garde

Publications

459

Citations

H-Index

Page 1

	Year	Citations
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients Michele Bertacchi, Anna Lisa Romano, Agnès Loubat, The EMBO Journal	2020	72
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon, The American Journal of Human Genetics Developmental BiologyMendelian DisorderGenetic DisorderPsychiatric GeneticsZmiz1 Variants	2019	66
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants Sayaka Kayumi, Luis A. Pérez‐Jurado, María Palomares‐Bralo, Genetics in Medicine	2022	48
<i>PURA-</i> Related Developmental and Epileptic Encephalopathy Katrine M. Johannesen, Elena Gardella, Cathrine E. Gjerulfsen, Neurology Genetics	2021	47
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis Charlotte Gehin, Museer A. Lone, Winston Lee, Journal of Clinical Investigation Neurodegenerative DiseasesMolecular PhysiologyDevelopmental BiologyMolecular NeuroscienceSignal Transduction	2023	39
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability Elke Bogaert, Aurore Garde, Thierry Gautier, The American Journal of Human Genetics	2023	24
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders Thomas Husson, François Lecoquierre, Gaël Nicolas, European Journal of Human Genetics	2023	23
Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases Daphné Lehalle, Roberto Colombo, Michael J. O’Grady, American Journal of Medical Genetics Part A	2019	22
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network Anne‐Sophie Denommé‐Pichon, Antonio Vitobello, Robert Olaso, European Journal of Human Genetics SequencingNext-generation SequencingPediatric Intensive CarePatient SafetyPediatrics	2021	21
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool Frédéric Tran Mau‐Them, Julian Delanne, Anne‐Sophie Denommé‐Pichon, Frontiers in Genetics	2023	21

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