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Author

Maude Grelet

Observed names: Grelet, Maude, M. Grelet
ORCID: 0000-0001-6532-9147
Observed ORCID: 0000-0001-6532-9147
OpenAlex ID: A5011098676
Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases
2018 · S. Baer, A. Afenjar, et al. · Clinical Genetics · 86
PFMG2025–integrating genomic medicine into the national healthcare system in France
2025 · Caroline Abadie, Aldja Abderrahmane, et al. · The Lancet Regional Health - Europe · 64
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Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene
2020 · Clarisse Billon, Arnaud Molin, et al. · Clinical Genetics · 26
HeterozygousHTRA1nonsense or frameshift mutations are pathogenic
2021 · Thibault Coste, Dominique Hervé, et al. · Brain · 23
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders
2019 · Maude Grelet, Véronique Blanck, et al. · Orphanet Journal of Rare Diseases · 9
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GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations
2025 · Solomon S. Merepa, Linda M. Reis, et al. · European Journal of Human Genetics · 8
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Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49
2022 · Mario Abaji, Svetlana Gorokhova, et al. · Genes · 6
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Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family
2022 · Rachel Fourneaux, Sarah Castets, et al. · Hormone Research in Paediatrics · 2
SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation
2019 · Maude Grelet, Jérémie Mortreux, et al. · Clinical Dysmorphology · 2
Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect
2018 · Amélie Pinard, Nathalie Eudes, et al. · Molecular Biology Reports · 1
Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012–2022)
2026 · Julien Maraval, Céline Dampfhoffer, et al. · European Journal of Human Genetics
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Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires
2026 · Juliette Coursimault, Emilie Guillon, et al. · Orphanet Journal of Rare Diseases
Additional file 1 of Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires
2026 · Juliette Coursimault, Emilie Guillon, et al. · Figshare
Additional file 2 of Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires
2026 · Juliette Coursimault, Emilie Guillon, et al. · Figshare
P181: Prenatal-onset hypertrophic cardiomyopathy in 54 patients with RASopathies: Understanding phenotype-genotype correlations for risk stratification, medical management and targeted therapies
2025 · Guillaume Jouret, Dominik Brado, et al. · Genetics in Medicine Open
Étude rétrospective portant sur 4 ans de diagnostic moléculaire dans le cadre de syndromes d'origine génétique avec vieillissement prématuré
2019 · Maude Grelet · HAL AMU
Additional file 1: of Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders
2019 · Grelet, Maude, Blanck, Véronique, et al. · Figshare
Works count: 19
Citation count: 227
H-index: 6
I10-index: 4
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