Associated Papers
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
Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.
Meier N et al.
European Journal of Human Genetics : Ejhg, 2019
Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways.
Clarke CN et al.
Journal of the Endocrine Society, 2019
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1
A further family of Stromme syndrome carrying CENPF mutation.
Ozkinay F et al.
American Journal of Medical Genetics. Part A, 2017
Longitudinal analysis of treatment-induced genomic alterations in gliomas.
Erson-Omay EZ et al.
Genome Medicine, 2017
28153049 (PubMed )
Supplement: 13073_2017_401_MOESM3_ESM.xlsx › AllMutations_Clonality
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Filges I et al.
Human Mutation, 2016
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