Marta Spodenkiewicz

University Of Reunion Island
Saint-pierre-les-bois, France

Last Updated: 09/26/2026

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Found 19 publications

From bedside to bench: A multimodal approach uncovering the molecular basis of the MYBPC1-linked Myotrem myopathy.

From bedside to bench: A multimodal approach uncovering the molecular basis of the MYBPC1-linked Myotrem myopathy.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 01, 2026

Founder effect and clinical heterogeneity of SLC27A4-related non-syndromic EDD in Réunion.

Founder effect and clinical heterogeneity of SLC27A4-related non-syndromic EDD in Réunion.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: November 23, 2025

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Journal: European journal of human genetics : EJHG

Published: September 19, 2025

Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.

Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.

Journal: European journal of human genetics : EJHG

Published: November 01, 2024

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

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

Journal: Nature genetics

Published: October 02, 2024

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

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

Journal: Human genetics

Published: December 14, 2023

Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).

Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).

Journal: European journal of medical genetics

Published: November 20, 2023

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

Journal: American journal of human genetics

Published: November 17, 2023

3q29 duplications: A cohort of 46 patients and a literature review.

3q29 duplications: A cohort of 46 patients and a literature review.

Journal: American journal of medical genetics. Part A

Published: September 20, 2023

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

Journal: American journal of medical genetics. Part A

Published: May 16, 2022

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

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

Journal: American journal of medical genetics. Part A

Published: December 15, 2021

Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.

Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.

Journal: Orphanet journal of rare diseases

Published: August 25, 2021

Showing 1-12 of 19

Last Updated: 09/26/2026