Jean‐Madeleine de Sainte Agathe

Author

Also Known As

Henri Margot, Jean-Madeleine De Sainte Agathe, Jean-Madeleine de Sainte Agathe, Jean-Madeleine de Sainte Agathe, Jean‐Madeleine de Sainte Agathe, Jean‐Madeleine de Sainte Agathe, Jean‐Madeleine de Sainte‐Agathe, Sandrine De Montgolfier, Solve-RD DITF-ITHACA

Publications

545

Citations

H-Index

Concepts

All Affiliations

Sorbonne Université Assistance Publique – Hôpitaux de Paris Inserm Pitié-Salpêtrière Hospital Institut du Cerveau

About

Jean‐Madeleine de Sainte Agathe is an author at Sorbonne Université specializing in neuroscience, medicine, and social sciences.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	2	2	60
2	Social Sciences	2	2	60
3	Neuroscience	2	2	60
4	Molecular Biology	1	1	20
5	Neurology	1	1	20

Jean‐Madeleine de Sainte Agathe

Publications

224

Citations

H-Index

Page 1

	Year	Citations
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model Antonio Vitobello, Benoît Mazel, Vera G. Lelianova, The American Journal of Human Genetics Neurodevelopmental DisordersKnockout MouseSynaptic PlasticityAdgrl1 HaploinsufficiencyDevelopmental Biology	2022	40
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses Steven Laurie, Kiran Polavarapu, Nika Schuermans, Nature Medicine	2025	29
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing Burcu Yaldız, Erdi Küçük, Juliet E. Hampstead, Human Genomics	2023	26
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption Caroline Nava, Benjamin Cogné, A. Santini, Nature Genetics	2025	26
Biallelic <scp><i>AOPEP</i></scp> Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement Michael Zech, Kishore R. Kumar, Sophie Reining, Movement Disorders	2021	22
Brain malformations and seizures by impaired chaperonin function of TRiC Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, Science Neurobiology Of DiseaseNeurophysiologyNeuroanatomyProtein FoldingGenetic Disorder	2024	20
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes Jean‐Loup Méreaux, Claire-Sophie Davoine, Marie Coutelier, Journal of Medical Genetics	2023	17
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes German Demidov, Steven Laurie, Annalaura Torella, European Journal of Human Genetics	2024	14
<scp><i>RNF170</i></scp>‐Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation Jean‐Madeleine de Sainte Agathe, Sandra Mercier, Jean‐Yves Mahé, Movement Disorders	2020	10
<i>ARF1</i>-related disorder: phenotypic and molecular spectrum Jean‐Madeleine de Sainte Agathe, Ben Pode‐Shakked, Sophie Naudion, Journal of Medical Genetics	2023	10

Page 1