Concepedia

Élodie Lejeune

ÉL

Statistics

Publications

5

Citations

175

H-Index

5

Active since

2017

Affiliations

Sorbonne Université(Current)

Assistance Publique – Hôpitaux de Paris

Hôpital Armand-Trousseau

Pitié-Salpêtrière Hospital

Hospices Civils de Lyon

Élodie Lejeune is an author at Sorbonne Université specializing in molecular genetics, corpus callosum abnormalities, and life sciences.

Publications per year

2017–2025

5

Publications

5

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

Solveig Heide, Myrtille Spentchian, Stéphanie Valence et al. · Genetics in Medicine · 2020 · 54 citations · Full text

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, Elsa Leitão et al. · Nature Genetics · 2025 · 42 citations · Full text

, , +17

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Solveig Heide, Boris Keren, Thierry Billette de Villemeur et al. · The Journal of Pediatrics · 2017 · 37 citations

, , +15

The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome

Lise Larcher, Joy Norris, Élodie Lejeune et al. · European Journal of Medical Genetics · 2019 · 32 citations · Full text

, , +6

Loss of function of ADNP by an intragenic inversion

Mathieu Georget, Élodie Lejeune, Julien Buratti et al. · European Journal of Human Genetics · 2023 · 10 citations · Full text

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