Associated Papers
Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.
Kakar N et al.
Clinical Genetics, 2024
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Z et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
34429528 (PubMed )
Supplement: EMS138012-supplement-Table_S3.xlsx › Sheet1
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Mutations in IFT80 cause SRPS Type IV. Report of two families and review.
Bizaoui V et al.
American Journal of Medical Genetics. Part A, 2019
IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.
Moran J et al.
Clinical Genetics, 2018
Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis.
Taschner M et al.
Elife, 2018
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
Beales PL et al.
Nature Genetics, 2007
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