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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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2012Journal (source)Am J Hum GenetMainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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2013Journal (source)Clin GenetOFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i...
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2010Journal (source)Nat GenetMutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and relat...
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2009Journal (source)Hum MutatCC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp...
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2016Journal (source)J Clin InvestTyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwar...
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2012Journal (source)Hum Mol GenetAn activating Fgfr3 mutation affects trabecular bone formation via a paracrin...
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2020Journal (source)Genet MedPhenotypic spectrum and transcriptomic profile associated with germline varia...
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2020Journal (source)BrainYIF1B mutations cause a post-natal neurodevelopmental syndrome associated wit...
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2017Journal (source)J Med GenetCompound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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2017Journal (source)J Med GenetCompound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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2016Journal (source)Am J Hum GenetRecessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
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2015Journal (source)Am J Hum GenetSubmicroscopic deletions at 13q32.1 cause congenital microcoria.
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2014Journal (source)Am J Hum GenetMutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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2012Journal (source)Mol Ther Nucleic AcidsAON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co...
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2013Journal (source)Am J Hum GenetALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
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2012Journal (source)Nat GenetMutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ...
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2015Journal (source)Eur J Hum GenetIdentification of a novel ARL13B variant in a Joubert syndrome-affected patie...
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2009Journal (source)Am J Hum GenetTMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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2004Journal (source)Am J Hum GenetRetinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
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2002Journal (source)Am J Hum GenetThe ABCA4 gene in autosomal recessive cone-rod dystrophies.
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2015Journal (source)Mol Ther Nucleic AcidsIntravitreal Injection of Splice-switching Oligonucleotides to Manipulate Spl...
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2014Journal (source)Am J Hum GenetMutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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2012Journal (source)Mol Ther Nucleic AcidsAON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co...
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2012Journal (source)Nat GenetMutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ...
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2012Journal (source)Am J Hum GenetMainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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2009Journal (source)Am J Hum GenetTMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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2003Journal (source)Adv Exp Med BiolLeber congenital amaurosis--genotyping required for possible inclusion in a c...
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2004Journal (source)Am J Hum GenetRetinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
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2021Journal (source)BloodDefective palmitoylation of transferrin receptor triggers iron overload in Fr...
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2018Journal (source)J Allergy Clin ImmunolEpithelial barrier dysfunction in desmoglein-1 deficiency.
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2017Journal (source)Nat MedMutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation...
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2018Journal (source)Eur J Hum GenetExpanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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2017Journal (source)Am. J. Hum. Genet.Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing ...
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2017Journal (source)Eur. J. Hum. Genet.High incidence and variable clinical outcome of cardiac hypertrophy due to AC...
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2018Journal (source)J. Med. Genet.No correlation between mtDNA amount and methylation levels at the CpG island ...
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2019Journal (source)J. Med. Genet.Segregation of mitochondrial DNA mutations in the human placenta: implication...
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2019Journal (source)Hum. Mutat.Inhibition of mitochondrial translation in fibroblasts from a patient express...
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2018Journal (source)Am. J. Hum. Genet.Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Senso...
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2019Journal (source)NatureMitochondrial double-stranded RNA triggers antiviral signalling in humans.
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2018Journal (source)Am. J. Hum. Genet.Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegenerati...
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2020Journal (source)Hum. Mol. Genet.Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein...
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2020Journal (source)Hum. Mutat.Clinical, neuroimaging and biochemical findings in patients and patient fibro...
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Journal (source)Journal of biomedical informaticsA Clinician Friendly Data Warehouse Oriented Toward Narrative Reports: Dr. Wa...
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2018Journal (source)Nat Commun.SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2018Journal (source)Nat CommunSLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2014Journal (source)Am J Hum GenetXYLT1 mutations in Desbuquois dysplasia type 2.
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2018Journal (source)J Med GenetFAM46A mutations are responsible for autosomal recessive osteogenesis imperfe...
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2020Journal (source)Mol AutismImpact of on-site clinical genetics consultations on diagnostic rate in child...
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2009Journal (source)Am J Hum GenetIdentification of CANT1 mutations in Desbuquois dysplasia.
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2009Journal (source)Am J Hum GenetIdentification of CANT1 mutations in Desbuquois dysplasia.
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2018Journal (source)Nat CommunSLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2014Journal (source)Am J Hum GenetXYLT1 mutations in Desbuquois dysplasia type 2.
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2018Journal (source)J Med GenetFAM46A mutations are responsible for autosomal recessive osteogenesis imperfe...
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2018Journal (source)Eur J Hum GenetExpanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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2009Journal (source)Am J Hum GenetIdentification of CANT1 mutations in Desbuquois dysplasia.
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2011Journal (source)Nat GenetMutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syn...
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2013Journal (source)Am J Hum GenetWDR34 mutations that cause short-rib polydactyly syndrome type III/severe asp...
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2020Journal (source)Nat CommunMINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...
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2015Journal (source)Am J Hum GenetMutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...
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2014Journal (source)Hum MutatA homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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2012Journal (source)Am J Hum GenetTCTN3 mutations cause Mohr-Majewski syndrome.
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2011Journal (source)Nat GenetKIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.