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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)J. Bone Miner. Res.
Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe...
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Journal (source)Bone
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphal...
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Journal (source)J. Exp. Med.
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann ...
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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)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)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.
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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)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...