Concepedia

Marta Spodenkiewicz

MS

4

Publications

107

Citations

4

H-Index

2021

Active since

Affiliations

Centre Hospitalier Universitaire de Reims(Current)

Université de Reims Champagne-Ardenne

Hôpital Robert-Debré

Sorbonne Université

Centre Hospitalier Universitaire de Grenoble

Marta Spodenkiewicz is an author at Centre Hospitalier Universitaire de Reims specializing in genetic epidemiology, genetics, and aneuploidy.

Top concepts

Publications per year

2021–2025

4

Publications

4

<scp>Adult‐</scp>onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients

S. Toquet, Marta Spodenkiewicz, Claire Douillard et al. · Journal of Inherited Metabolic Disease · 2021 · 37 citations

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Clémence Jacquin, Emilie Landais, Céline Poirsier et al. · American Journal of Medical Genetics Part A · 2022 · 32 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, A. Santini et al. · Nature Genetics · 2025 · 26 citations · Full text

The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

Niels Vos, Sadegheh Haghshenas, Liselot van der Laan et al. · Human Genetics · 2024 · 12 citations · Full text

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