Presentation
Scientific Publications
-
2024
2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency., J Clin Immunol
-
2023
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protei..., Springer Science and Business Media LLC
-
2021
Duplication of the IL2RA locus causes excessive IL-2 signaling and may predis..., Mucosal Immunol
-
2019
[Twenty years of on-site clinical genetics consultations for people with ASD]., Med Sci (Paris)
-
2018
Whole-exome sequence analysis highlights the role of unmasked recessive mutat..., Eur J Hum Genet
-
2017
Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Ano..., J Am Soc Nephrol
-
2017
Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associate..., Am J Med Genet A
-
2012
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia., J Med Genet