Concepedia

Author

Marta Spodenkiewicz

Centre Hospitalier Universitaire de Reims

Also Known As

Céline Poirsier, Marta Spodenkiewicz, Spodenkiewicz, Marta, Victor Simmet

22

Publications

414

Citations

10

H-Index

13

Concepts

All Affiliations

Centre Hospitalier Universitaire de ReimsUniversité de Reims Champagne-ArdenneHôpital Robert-DebréSorbonne UniversitéCentre Hospitalier Universitaire de Grenoble
MS

About

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

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

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2

Public Health

1

1

32

3

Pathology

1

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32

4

Clinical Genetics

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32

5

Developmental Biology

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32

Marta Spodenkiewicz

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4

Publications

107

Citations

4

H-Index

YearCitations

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

S. Toquet, Marta Spodenkiewicz, Claire Douillard,

Journal of Inherited Metabolic Disease

2021

37

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

Clémence Jacquin, Emilie Landais, Céline Poirsier,

American Journal of Medical Genetics Part A

2022

32

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

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,

Human Genetics

2024

12

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