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Pediatrician and Geneticist, Arnold Munnich is the creator and Head of the Department of Medical Genetics at the Necker-Enfants malades Hospital in Paris. After an internship at the Paris hospitals (1975) and a thesis of sciences (1988) at the Cochin Institute under the direction of Axel Kahn, he was named professor of genetics at the Paris Descartes University in 1989. He made his clinicat (1986-1990) at the Necker Hospital in Paris. He directed the INSERM "Genetic Disorders of the Child" unit until 2014. Doctor of Medicine, Doctor of Science and Professor of Genetics at the Paris Descartes University since 1989, Arnold Munnich devoted his research to the identification of genes responsible for the neurological, metabolic and malformative handicaps of the child. In 2016, he was elected President of the Imagine Institute of Genetic Diseases, which he co-founded in 2007 with Professors Claude Griscelli and Alain Fischer in particular.
Resources & publications
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Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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Journal (source)Clin Genet
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i...
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Journal (source)Nat Genet
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and relat...
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Journal (source)Hum Mutat
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp...
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Journal (source)J Clin Invest
Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwar...
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Journal (source)Hum Mol Genet
An activating Fgfr3 mutation affects trabecular bone formation via a paracrin...
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Journal (source)Genet Med
Phenotypic spectrum and transcriptomic profile associated with germline varia...
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Journal (source)Brain
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated wit...
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Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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Journal (source)Am J Hum Genet
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
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Journal (source)Am J Hum Genet
Submicroscopic deletions at 13q32.1 cause congenital microcoria.
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Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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Journal (source)Mol Ther Nucleic Acids
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co...
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Journal (source)Am J Hum Genet
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
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Journal (source)Nat Genet
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ...
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Journal (source)Eur J Hum Genet
Identification of a novel ARL13B variant in a Joubert syndrome-affected patie...
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Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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Journal (source)Am J Hum Genet
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
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Journal (source)Am J Hum Genet
The ABCA4 gene in autosomal recessive cone-rod dystrophies.
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Journal (source)Mol Ther Nucleic Acids
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Spl...
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Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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Journal (source)Mol Ther Nucleic Acids
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co...
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Journal (source)Nat Genet
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ...
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Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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Journal (source)Adv Exp Med Biol
Leber congenital amaurosis--genotyping required for possible inclusion in a c...
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Journal (source)Am J Hum Genet
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
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Journal (source)Blood
Defective palmitoylation of transferrin receptor triggers iron overload in Fr...
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Journal (source)J Allergy Clin Immunol
Epithelial barrier dysfunction in desmoglein-1 deficiency.
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Journal (source)Nat Med
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation...
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Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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Journal (source)Am. J. Hum. Genet.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing ...
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Journal (source)Eur. J. Hum. Genet.
High incidence and variable clinical outcome of cardiac hypertrophy due to AC...
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Journal (source)J. Med. Genet.
No correlation between mtDNA amount and methylation levels at the CpG island ...
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Journal (source)J. Med. Genet.
Segregation of mitochondrial DNA mutations in the human placenta: implication...
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Journal (source)Hum. Mutat.
Inhibition of mitochondrial translation in fibroblasts from a patient express...
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Journal (source)Am. J. Hum. Genet.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Senso...
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Journal (source)Nature
Mitochondrial double-stranded RNA triggers antiviral signalling in humans.
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Journal (source)Am. J. Hum. Genet.
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegenerati...
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Journal (source)Hum. Mol. Genet.
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein...
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Journal (source)Hum. Mutat.
Clinical, neuroimaging and biochemical findings in patients and patient fibro...
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Journal (source)Journal of biomedical informatics
A Clinician Friendly Data Warehouse Oriented Toward Narrative Reports: Dr. Wa...
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Journal (source)Nat Commun.
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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Journal (source)Nat Commun
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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Journal (source)Am J Hum Genet
XYLT1 mutations in Desbuquois dysplasia type 2.
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Journal (source)J Med Genet
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfe...
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Journal (source)Mol Autism
Impact of on-site clinical genetics consultations on diagnostic rate in child...
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Journal (source)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.
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Journal (source)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.
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Journal (source)Nat Commun
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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Journal (source)Am J Hum Genet
XYLT1 mutations in Desbuquois dysplasia type 2.
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Journal (source)J Med Genet
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfe...
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Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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Journal (source)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.
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Journal (source)Nat Genet
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syn...
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Journal (source)Am J Hum Genet
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asp...
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Journal (source)Nat Commun
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...
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Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...
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Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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Journal (source)Am J Hum Genet
TCTN3 mutations cause Mohr-Majewski syndrome.
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Journal (source)Nat Genet
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.