Presentation
Stanislas Lyonnet is the Director of Imagine, the Institute of Genetic Diseases since July 2016. He is a Professor of Genetics at Paris Descartes University and a clinical geneticist at Hôpital Necker-Enfants Malades. As the principal investigator of an INSERM group (Genetics and embryology of malformations), he has conducted a number of studies aiming to identify the genes and molecular bases involved in inborn errors of development, and authored or co-authored more than 400 publications in peer-reviewed journals.
Stanislas Lyonnet is responsible for the European Master of Genetics (Paris Descartes-Paris Diderot), and served as a member of the INSERM Scientific Advisory Board. He was responsible for launching the Rare Diseases Research Program of the French National Agency for Research (ANR). He is a section editor of the European Journal of Human Genetics, and a member of the editorial board of Human Molecular Genetics. Stanislas Lyonnet is the President of Scientific Advisory Board of Ecole Normale Supérieure (Ulm).
Stanislas Lyonnet was awarded the Jean Hamburger prize in 2006, the INSERM Research Prize in 2009, and the National Academy of Medicine Prize in 2012. He was elected President of the European Society of Human Genetics in 2013.
Imagine is a research and innovative healthcare institute of a new type, bringing together scientists, physicians and patients, on the campus of the Necker-Enfants Malades University Hospital. Imagine promotes an innovative vision of integrating clinics and biology, research and care, as well as public and private partnerships, to speed up the diagnostic and the discovery of new treatments of genetic disorders, and to encourage the fast transfer and translation of knowledge in order to meet the expectations of the patients and their families. As such, Imagine contributes to the France-Médecine-Génomique 2025 national plan. (http://www.institutimagine.org/en/)
Resources & publications
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Journal (source)Brain
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa...
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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.
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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)Clin Genet
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i...
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Journal (source)Am J Hum Genet
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellec...
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Journal (source)J Clin Invest
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with g...
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Journal (source)Genet Med
Phenotypic spectrum and transcriptomic profile associated with germline varia...
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Journal (source)Am J Hum Genet
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spec...
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Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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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
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
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Journal (source)Proc Natl Acad Sci U S A
Agonists of prostaglandin E2 receptors as potential first in class treatment ...
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Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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Journal (source)Clin Genet
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
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Journal (source)Sci Rep
Next generation phenotyping for diagnosis and phenotype-genotype correlations...
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Journal (source)Hum. Mol. Genet.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multi...
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Journal (source)Am. J. Hum. Genet.
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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Journal (source)Nat. Genet.
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and a...
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Journal (source)Am. J. Hum. Genet.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
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Journal (source)Nat. Genet.
MMP21 is mutated in human heterotaxy and is required for normal left-right as...
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Journal (source)Am. J. Hum. Genet.
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis ...
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Journal (source)Am. J. Hum. Genet.
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and domin...
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Journal (source)J. Med. Genet.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
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Journal (source)Nat. Genet.
Highly conserved non-coding elements on either side of SOX9 associated with P...
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Journal (source)Brain
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa...
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Journal (source)J Biomed Inform
Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.
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Journal (source)Neuroimage Clin
Anatomical and functional abnormalities on MRI in kabuki syndrome.
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Journal (source)Am. J. Hum. Genet.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
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Journal (source)Am. J. Hum. Genet.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch...
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Journal (source)Science
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.
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Journal (source)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
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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)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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Journal (source)Blood
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative bl...