M. Aubart

D. Levy-bruhl, I. Desguerre, B. Lina, 2016, Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin.

Severe Acute Flaccid Myelitis Associated With Enterovirus in Children: Two Phenotypes for Two Evolution Profiles?

N. Boddaert, I. Desguerre, L. Musset, 2020, Frontiers in Neurology.

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

G. Jondeau, D. Lacombe, G. Collod-Béroud, 2016, Journal of Medical Genetics.

Prior infection by seasonal coronaviruses, as assessed by serology, does not prevent SARS-CoV-2 infection and disease in children, France, April to June 2020

D. Kariyawasam, C. Huon, I. Sermet-Gaudelus, 2021, Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin.

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.

M. Gross, G. Jondeau, L. Gouya, 2015, Human molecular genetics.

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

T. Bourgeron, E. Génin, M. Gross, 2018, European Journal of Human Genetics.

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

M. Gross, G. Jondeau, C. Boileau, 2018, Genes.

Neurological features related to influenza virus in the pediatric population: a 3-year monocentric retrospective study

I. Desguerre, M. Aubart, Charles-Joris Roux, 2023, European Journal of Pediatrics.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability

M. Gross, G. Jondeau, L. Gouya, 2020, Genes.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency

J. Casanova, R. Dix, L. Notarangelo, 2023, Science Immunology.

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

M. Gross, K. Sekiguchi, D. Milewicz, 2020, Genetics in Medicine.

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

M. Gross, K. Sekiguchi, D. Milewicz, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome

M. Sitbon, O. Boespflug-Tanguy, F. Mochel, 2023, Neurology.

Neuroinflammatory Disease following Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Children

N. Boddaert, Shen-Ying Zhang, I. Desguerre, 2022, The Journal of Pediatrics.

Clinical and radiological description of 120 pediatric stroke‐like episodes

A. Munnich, N. Boddaert, R. Nabbout, 2023, European journal of neurology.

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study

C. Bodemer, N. Boddaert, D. Duffy, 2023, Journal of Clinical Immunology.

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Mark S. Anderson, P. Gregersen, R. Nussbaum, 2021, Science Immunology.

Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients

J. Casanova, J. Fellay, M. Diamond, 2023, The Journal of experimental medicine.

Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings.

A. Brassier, M. Aubart, Charles-Joris Roux, 2024, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.