Associated Papers
Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels.
Hawkes G et al.
Nature Genetics, 2025
39994471 (PubMed )
Supplement: 41588_2025_2095_MOESM4_ESM.xlsx › ST7
The first case report of Strømme syndrome in a Chinese patient: Expanding the phenotype and literature review.
Ho S et al.
American Journal of Medical Genetics. Part A, 2022
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Cappuccio G et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.
Meier N et al.
European Journal of Human Genetics : Ejhg, 2019
A further family of Stromme syndrome carrying CENPF mutation.
Ozkinay F et al.
American Journal of Medical Genetics. Part A, 2017
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Filges I et al.
Human Mutation, 2016
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Waters AM et al.
Journal of Medical Genetics, 2015
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