Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies.
Vaseghi P et al.
European Journal of Human Genetics : Ejhg, 2024
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
Slaats GG et al.
Journal of Medical Genetics, 2016
A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.
Weatherbee SD et al.
Human Molecular Genetics, 2009
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Tallila J et al.
Human Mutation, 2009
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
Frank V et al.
Human Mutation, 2007
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