Associated Papers
Clinical characteristics and genotype-phenotype correlation for patients with autosomal recessive polycystic kidney disease and PKHD1 mutations.
Wang Q et al.
Clinical Nephrology, 2025
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.
Hao C et al.
Communications Medicine, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.
Hashiba T et al.
Journal of Diabetes Investigation, 2025
The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease.
Bi J et al.
Clinical Kidney Journal, 2025
Prenatal diagnosis and molecular characterization of PKHD1 variants in two Chinese fetuses with Caroli disease/syndrome.
Huang H et al.
Frontiers in Genetics, 2025
Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1.
Liu X et al.
Nephrology (carlton, Vic.), 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Association of congenital hepatic fibrosis and Caroli's syndrome: Two illustrative cases.
Wang M et al.
Clinics and Research in Hepatology and Gastroenterology, 2024
Novel splice site and nonsense variants in PKHD1 cause autosomal recessive polycystic kidney disease in a Chinese Zhuang ethnic family.
Qian C et al.
Medicine, 2024
[Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].
Hou W et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2024
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea.
Lee JY et al.
Annals of Human Genetics, 2024
Histopathology and molecular pathology confirmed a diagnosis of atypical Caroli's syndrome: a case report.
Zhou T et al.
Diagnostic Pathology, 2024
Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.
Liu Y et al.
Human Genome Variation, 2023
A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease.
Li H et al.
Journal of Clinical Medicine, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Association of a novel PKHD1 mutation in a family with autosomal dominant polycystic liver disease.
Wang J et al.
Annals of Translational Medicine, 2021
Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.
Wu Y et al.
Frontiers in Genetics, 2021
Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review.
Qiu LR et al.
Current Medical Science, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Novel genetic susceptibility loci identified by family based whole exome sequencing in Han Chinese schizophrenia patients.
Li M et al.
Translational Psychiatry, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
[Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review].
Yang XY et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2018
Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.
Cho Y et al.
Scientific Reports, 2017
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
Kang HG et al.
Experimental & Molecular Medicine, 2016
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
Courcet JB et al.
American Journal of Medical Genetics. Part A, 2015
Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease.
Liu SP et al.
World Journal of Pediatrics : Wjp, 2014
Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.
Hao X et al.
Plos One, 2014