Associated Papers
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2c._Multiple_occurences
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Best S et al.
Journal of Medical Genetics, 2022
35764379 (PubMed )
Supplement: jmedgenet-2022-108476supp001.pdf
[Genetic analysis of novel MKKS variants in a Chinese patient with Bardet-Biedl syndrome].
Li H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C et al.
Archives of Gynecology and Obstetrics, 2022
Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways.
Witte HM et al.
Blood Advances, 2022
34714908 (PubMed )
Supplement: advancesADV2021005486-suppl6.xlsx › Variants
Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies.
Liu Y et al.
Frontiers in Genetics, 2021
34675960 (PubMed )
Supplement: Table1.XLSX › Sheet1
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH et al.
Bmc Medical Genetics, 2020
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Stokman MF et al.
Pediatric Nephrology (berlin, Germany), 2018
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
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA et al.
Journal of Medical Genetics, 2011
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M et al.
Human Mutation, 2010
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Doherty D et al.
Journal of Medical Genetics, 2010
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
Otto EA et al.
Journal of Medical Genetics, 2009
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
Brancati F et al.
Human Mutation, 2009
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