Associated Papers
Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly.
Zhuang J et al.
Frontiers in Pediatrics, 2024
INTU-related oral-facial-digital syndrome XVII: Clinical spectrum of a rare disorder.
Yakar O et al.
American Journal of Medical Genetics. Part A, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA.
Doornbos C et al.
European Journal of Human Genetics : Ejhg, 2021
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
Duran I et al.
Cilia, 2017
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
Toriyama M et al.
Nature Genetics, 2016
Select a paper to view details