PhenomeGene — Human Disease Gene Website SeriesCENPF

Publications

Waters AM, et al. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. J Med Genet. 2015;52(3):147-156. doi:10.1136/jmedgenet-2014-102691

Ozkinay F, et al. A further family of Stromme syndrome carrying CENPF mutation. Am J Med Genet A. 2017;173(6):1668-1672. doi:10.1002/ajmg.a.38173

Kahrizi K, et al. Effect of inbreeding on intellectual disability revisited by trio sequencing. Clin Genet. 2019;95(1):151-159. doi:10.1111/cge.13463

Maddirevula S, et al. Autozygome and high throughput confirmation of disease genes candidacy. Genet Med. 2019;21(3):736-742. doi:10.1038/s41436-018-0138-x

Cappuccio G et al.Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.  Am J Med Genet C Semin Med Genet. 2022;190(1):102-108. PMID: 35488810.

Caridi G, et al. Renal involvement and Strømme syndrome. Clin Kidney J. 2020;14(1):439-441. Published 2020 Jan 25. doi:10.1093/ckj/sfz189

Alghamdi M, et al. Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review.Eur J Med Genet. 2020;63(5):103844. doi:10.1016/j.ejmg.2020.103844

Caridi G et al.Renal involvement and Strømme syndrome. Clin Kidney J. 2020;14(1):439-441. PMID: 33564452.

Filges I et al.CUGC for Stromme syndrome and CENPF-related disorders. Eur J Hum Genet. 2020;28(1):132-136. PMID: 31488893.

Filges I et al.Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.  Hum Mutat. 2016;37(4):359-63. PMID: 26820108.

Ho SKL et al.Strømme Syndrome.  GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 36375007.