Radboud university medical center
29 papers found
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
The UK10K project identifies rare variants in health and disease
A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Whole-genome sequence-based analysis of thyroid function
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Clinical genetics and pathobiology of ciliary chondrodysplasias.
Investigating the Molecular Basis in 174 Cases of Jeune Asphyxiating Thoracic Dystrophy and Other Non Motile Ciliopathies
Development of an Automated Imaging Pipeline for the Analysis of the Zebrafish Larval Kidney
Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans.
Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia
DYX1C1 is required for axonemal dynein assembly and ciliary motility
Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
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