Associated Papers
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
41141495 (PubMed )
Supplement: mmc1.pdf
Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.
Pyatla G et al.
International Journal of Molecular Sciences, 2024
39337513 (PubMed )
Supplement: ijms-25-10028-s001.zip › Copy_of_Revised_Table_S3_CEP164_reported_phenotypes.xlsx › Sheet1
A novel pathogenic variant of CEP164 in an infant with Senior-Loken syndrome.
Liu L et al.
Pediatric Investigation, 2023
37324592 (PubMed )
Supplement: PED4-7-140-s001.pdf
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Devlin LA et al.
Clinical Genetics, 2023
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Shoemark A et al.
The European Respiratory Journal, 2022
Deletion of CEP164 in mouse photoreceptors post-ciliogenesis interrupts ciliary intraflagellar transport (IFT).
Reed M et al.
Plos Genetics, 2022
Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.
Rosa E Silva I et al.
Structure (london, England : 1993), 2022
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
Wheway G et al.
Bmc Medical Genomics, 2021
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
Abualsaud D et al.
American Journal of Medical Genetics. Part A, 2021
The morbid genome of ciliopathies: an update.
Shamseldin HE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Maria M et al.
Scientific Reports, 2016
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.
Ajmal M et al.
Molecular Vision, 2013
Complex patterns of chromosome 11 aberrations in myeloid malignancies target CBL, MLL, DDB1 and LMO2.
Klampfl T et al.
Plos One, 2013
24147083 (PubMed )
Supplement: pone.0077819.s003.xls › Sheet1
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Chaki M et al.
Cell, 2012
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