Associated Papers
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.
Jung J et al.
Clinical Genetics, 2023
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.
Zhang C et al.
Journal of Medical Genetics, 2023
Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study.
Fujitani H et al.
European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2023
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
BUBR1 Pseudokinase Domain Promotes Kinetochore PP2A-B56 Recruitment, Spindle Checkpoint Silencing, and Chromosome Alignment.
Gama Braga L et al.
Cell Reports, 2020
Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees.
Xu Y et al.
Frontiers in Oncology, 2020
[Clinical features and genetic analysis of a child with mosaic variegated aneuploidy syndrome].
He T et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.
Fu F et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
In silico analysis of deleterious single nucleotide polymorphisms in human BUB1 mitotic checkpoint serine/threonine kinase B gene.
Akhoundi F et al.
Meta Gene, 2016
Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy.
Suijkerbuijk SJ et al.
Cancer Research, 2010
Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.
García-Castillo H et al.
American Journal of Medical Genetics. Part A, 2008
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
Hanks S et al.
Nature Genetics, 2004