Présentation
Contact
Pédiatre Endocrinologue, MD., PhD
- Chef de Clinique de 2015 à 2017 dans le service d’Endocrinologie, Diabétologie et Gynécologie Pédiatriques à l’hôpital universitaire Necker-Enfants-Malades
- Doctorat d’Université à Paris Descartes en Biologie en 2016 sur les mécanismes d’hypothyroïdie primaire dans le syndrome de Down
- Post-doctorat à Boston Children’s Hospital, Harvard Medical School de 2017 à 2019 dans le department d’Endocrinologie. Travaux sur :
- la différentiation de cellules souches humaines en cellules stéroïdogéniques
- le développement post-natal de la zona glomerulosa de la surrénale et mécanismes d’hyperaldostéronisme primaire.
Ressources & publications
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2009Journal (source)Nat. Genet.Highly conserved non-coding elements on either side of SOX9 associated with P...
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2020Journal (source)Am. J. Hum. Genet.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta...
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2015Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...
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2019Journal (source)Biol Cell
Cilia in hereditary cerebral anomalies.
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2019Journal (source)Hum Mol Genet
Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in...
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2015Journal (source)J Cell Biol
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the cilia...
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2014Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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2012Journal (source)Am J Hum Genet
TCTN3 mutations cause Mohr-Majewski syndrome.
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2018Journal (source)Birth Defects Res
A neuropathological study of novel RTTN gene mutations causing a familial mic...
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2011Journal (source)Nat Genet
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
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2018Journal (source)Am J Med Genet A
Loss of function IFT27 variants associated with an unclassified lethal fetal ...
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Journal (source)J Neuropathol Exp Neurol
Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Rela...
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2017Journal (source)Am J Med Genet A
Prenatal and postnatal presentations of corpus callosum agenesis with polymic...
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2015Journal (source)Eur J Hum Genet
Identification of a novel ARL13B variant in a Joubert syndrome-affected patie...
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2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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2013Journal (source)Clin Genet
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i...
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2013Journal (source)Eur J Hum Genet
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome an...
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2012Journal (source)Science
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
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2012Journal (source)Nat Med
Gene therapy rescues cilia defects and restores olfactory function in a mamma...
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2010Journal (source)J Med Genet
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
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2010Journal (source)Nat Genet
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and relat...
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2009Journal (source)Hum Mutat
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp...
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2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...