Yline Capri
0000-0002-6269-5966
Publication & Citation Trends
Most Cited Works
Publications
120 total
Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy
Cited by 0
Semantic Scholar
Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants
Cited by 4
Semantic Scholar
Biallelic null RAB3GAP1 variants impair cortical development and autophagy in Warburg Micro syndrome: evidence from fetal brain tissue and patient fibroblasts
Cited by 0
Semantic Scholar
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations
Cited by 0
Semantic Scholar
Loss of function variants in ADAMTS6: Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS) OA
Cited by 1
Semantic Scholar
Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene
Cited by 1
Semantic Scholar
The Two Faces of Pediatric SCA2
Cited by 1
Semantic Scholar
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive
Cited by 0
Semantic Scholar
Research Topics
Genetics and Neurodevelopmental Disorders
(25)
Genomic variations and chromosomal abnormalities
(24)
Genomics and Rare Diseases
(22)
RNA modifications and cancer
(16)
Protein Tyrosine Phosphatases
(14)
Frequent Co-Authors
Affiliations
Centre National de la Recherche Scientifique
Inserm
Délégation Paris 7
Université Clermont Auvergne
Université Paris Cité