Publication & Citation Trends
Publications
131 total
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes
Cited by 3
Semantic Scholar
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
Cited by 0
Semantic Scholar
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects OA
Cited by 7
Semantic Scholar
Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype
Cited by 9
Semantic Scholar
Author response for "A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome"
Cited by 0
Semantic Scholar
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish OA
Cited by 11
Semantic Scholar
High prevalence of Bardet‐Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3
Cited by 12
Semantic Scholar
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum. OA
Cited by 11
Semantic Scholar
Research Topics
Genetic and Kidney Cyst Diseases
(56)
Genetic Syndromes and Imprinting
(41)
Hedgehog Signaling Pathway Studies
(29)
Renal and related cancers
(25)
Bone and Dental Protein Studies
(14)
Affiliations
Centre National de la Recherche Scientifique
Inserm
St James's University Hospital
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Institut de génétique et de biologie moléculaire et cellulaire