Publication & Citation Trends
Publications
34 total
FHL1 is a key player of chikungunya virus tropism and pathogenesis. OA
Cited by 3
Semantic Scholar
A de novo 13q31.3 microduplication encompassing the miR-17∼92 cluster results in features mirroring those associated with Feingold syndrome 2.
Cited by 7
Semantic Scholar
De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome OA
Cited by 10
Semantic Scholar
Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy
Cited by 8
Semantic Scholar
De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome OA
Cited by 1
Semantic Scholar
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families
Cited by 7
Semantic Scholar
EP08.02: Cerebral imaging features of a new syndromic entity related to KIAA1109 loss‐of‐function variants OA
Cited by 0
Semantic Scholar
Research Topics
Nuclear Structure and Function
(8)
RNA Research and Splicing
(6)
RNA modifications and cancer
(5)
RNA regulation and disease
(5)
Muscle Physiology and Disorders
(4)
Affiliations
Centre National de la Recherche Scientifique
Inserm
Université de Bourgogne
Université Paris Cité
Sorbonne Université