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Julien Maraval | Researchclopedia

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Julien Maraval

16

Works

58

Citations

4

h-index

2

i10-index

Research Topics

Genomics and Rare Diseases RNA Research and Splicing RNA modifications and cancer

Affiliations

Inserm2023–2026

Université de Bourgogne2023–2026

Hôpital d'Enfants2024–2025

CHU Dijon Bourgogne2023–2024

Genomic and Immunotherapy Medical Institute2025–2025

Top Works

Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

Ariane Schmetz,Hermann‐Josef Lüdecke,et al.

202324 citations

Genetics and Neurodevelopmental Disorders

Congenital heart defects research

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

James L. Shepherdson,Katie Hutchison,et al.

202416 citations

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder

Fatimah Albuainain,Yuwei Shi,et al.

20247 citations

Abnormal <scp>DNA</scp> Methylation Profile Suggests the Extension of the Clinical Spectrum of the <scp><i>SETD2</i></scp>‐Related Disorders to a Syndromic Multiple Tumor Phenotype

Marie Lucain,Antonio Vitobello,et al.

20253 citations

Expanding <scp>MNS1</scp> Heterotaxy Phenotype

Julien Maraval,Andrée Delahaye‐Duriez,et al.

20241 citations

Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A

Angélique Hamamie-Chaar,Mathilde Renaud,et al.

20241 citations

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Elsa Leitão,Amandine Santini,et al.

20250 citations

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes

Caroline Racine,Aurore Garde,et al.

20250 citations

« Trouver une formule de dispositif qui soit la plus intégrée, et la plus intégratrice, possible »

Julien Maraval,Régis Guyon

20170 citations