Associated Papers
Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases.
Hu HY et al.
Journal of Cellular and Molecular Medicine, 2021
Any modality of renal replacement therapy can be a treatment option for Joubert syndrome.
Takagi Y et al.
Scientific Reports, 2021
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH et al.
Bmc Medical Genetics, 2020
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Braun DA et al.
Kidney International, 2016
26489029 (PubMed )
Supplement: NIHMS723233-supplement-01.pdf
Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.
Watson CM et al.
Bmc Medical Genetics, 2016
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J et al.
Human Genetics, 2013
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