Publication & Citation Trends
Publications
5 total
Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants
Cited by 0
Semantic Scholar
CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE
Cited by 0
Semantic Scholar
PIK3C2A ‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect
Cited by 2
Semantic Scholar
Genome region aware CADD thresholds for noncoding variant prioritization
Cited by 0
Semantic Scholar
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes
Cited by 3
Semantic Scholar
Research Topics
Genomics and Rare Diseases
(3)
Genomics and Phylogenetic Studies
(2)
Oral microbiology and periodontitis research
(1)
Genetic Associations and Epidemiology
(1)
Neurological disorders and treatments
(1)
Affiliations
Centre National de la Recherche Scientifique
Inserm
Institut de génétique et de biologie moléculaire et cellulaire
Hôpitaux Universitaires de Strasbourg
Hôpital Civil, Strasbourg