Presentation
Maud De Dieuleveult, Chargée de Recherche
The regulation of genetic information is an essential mechanism for the survival of an organism. I have dedicated my research work to the study of the molecular mechanisms that govern genetic expression and the establishment of the epigenome in a healthy and pathological context, and more particularly now in the context of rare diseases.
Mini CV :
Since 2021 : Permanent researcher INSERM
2020-2021 : Project Manager Nomenclature maladies Rare, Banque Nationale des Données Maladies Rares, APHP, Paris BNDMR
2015-2020 : Post-doc @UMR7216 Epigenetics and cell fate and @Institut Cochin, Paris
2011-2014 : Post-doc @ULB, Free University of Brussels, Belgium
2006-2010 : Thesis, CEA Saclay, Gif-sur-Yvette PhD
Research projects :
- Epigenetics and growth disorders: A better epigenomic description and molecular understanding of rare growth pathologies to improve diagnosis for patients.
- iPS and rare diseases: A new dynamic tool to better understand the molecular mechanisms involved during the development of a rare growth pathology.
- Autoantibodies and autoimmune diseases: Use of existing data to improve the description and understanding of autoimmune diseases and associated clinical signs (MAKAAO Project: MApping elements of Knowledge about Autoimmune disease, Auto antibodies and other clinical signs).
Keywords :
Epigenetics, pluripotent stem cells, rare diseases, epigenomics, diagnosis, ChIP-seq, EPIC array, iPS cells.
Useful links :
Resources & publications
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Journal (source)J Biomed Inform
Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.
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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)Hum. Mol. Genet.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multi...
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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...
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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 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)Brain
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa...
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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...