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Arnold Münnich
Affiliation : Hôpital Necker-Enfants Malades · Inserm · Institut Necker Enfants Malades · Assistance Publique – Hôpitaux de Paris · Institut des Maladies Génétiques Imagine
- 23Publications (affiliation in France)
- 1379Total publications
- 83893Citations
- 144h-index
Research profile
Arnold Münnich has 23 indexed publications (1983–2023). Their work appears mainly in “Human Mutation”, “American Journal of Medical Genetics Part A” and “The American Journal of Human Genetics”. Their most cited article, “Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis” (2011), has been cited 991 times. Their work is co-authored with at least 12 researchers, including institutions in Tunisia, Morocco, United States, Germany.
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Create my free profile Add my publicationsResearch areas
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Hereditary Neurological Disorders
- Genetics and Neurodevelopmental Disorders
Publications (23)
- A recurrent homozygous LMNA missense variant p. Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities
- First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia
- Refining the phenotype associated with CASC5 mutation
- New insights into genotype–phenotype correlation for GLI3 mutations
- Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype
- Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy
- TCTN3 Mutations Cause Mohr-Majewski Syndrome
- Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
- High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy
- Multiple sources of metabolic disturbance inETHE1‐related ethylmalonic encephalopathy
- CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
- Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family
- Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis
- Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus
- Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II
- Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease
- Clinical and genetic heterogeneity in Desbuquois dysplasia
- Identification of seven novel mutations in theGAN gene
- Homozygosity Mapping of a Locus for a Novel Syndromic Ichthyosis to Chromosome 3q27–q28
- Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1
- Both Recessive and Dominant Forms of Anhidrotic/Hypohidrotic Ectodermal Dysplasia Map to Chromosome 2q11-q13
- Multiple molybdoenzyme deficiencies due to an inborn error of molybdenum cofactor metabolism: Two additional cases in a new family
Publication venues
- Human Mutation × 5
- American Journal of Medical Genetics Part A × 2
- The American Journal of Human Genetics × 2
- Nature Genetics × 2
- Journal of Inherited Metabolic Disease × 2
- Journal of the European Academy of Dermatology and Venereology × 1
Publications per year
- 20231
- 20181
- 20151
- 20141
- 20132
- 20121
- 20111
- 20103
- 20092
- 20073
Collaborations
Partner institutions : Université Paris Descartes · Sorbonne Paris Cité · Centre Hospitalier Universitaire de Lille · Université Paris Diderot · University of Sfax
Co-authors’ countries : Tunisia · Morocco · United States · Germany
Co-authors
- Stanislas Lyonnet
- Tania Attié‐Bitach
- Smail Hadj-Rabia
- Férechté Encha‐Razavi
- Michel J. J. Vekemans
- J. Roume
- Sophie Thomas
- Nathalie Boddaert
- Lekbir Baala
- Asma Smahi
- Valérie Cormier‐Daire
- Soumaya Mougou-Zerelli
Bibliographic data from OpenAlex (open database).
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