Associated Papers
Clinical and Molecular Features of Ciliopathies Diagnosed by Prenatal Exome Sequencing in Fetuses With Ultrasound Abnormalities.
Zhu X et al.
Prenatal Diagnosis, 2025
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.
Jung J et al.
Clinical Genetics, 2023
Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.
Chen CB et al.
The Journal of Pediatrics, 2023
Utility of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study.
Zhu X et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.
Sakakibara N et al.
Journal of Human Genetics, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.
Abdullah U et al.
Nephrology (carlton, Vic.), 2017
Hepatorenal fibrocystic diseases in children.
Park E et al.
Pediatric Nephrology (berlin, Germany), 2016
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