Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Kido J et al.
Human Mutation, 2025
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.
Chen SC et al.
Journal of Assisted Reproduction and Genetics, 2023
A de novo mutation of ADAMTS8 in a patient with Wiedemann-Steiner syndrome.
Wang S et al.
Molecular Cytogenetics, 2023
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.
Sharo AG et al.
Genome Medicine, 2023
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis.
Nguyen MT et al.
Journal of Human Genetics, 2023
NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells.
Owusu-Ansah M et al.
International Journal of Molecular Sciences, 2023
Whole exome sequencing with a focus on cardiac disease-associated genes in families of sudden unexplained deaths in Yunnan, southwest of China.
Wei SJ et al.
Bmc Genomics, 2023
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S et al.
Trends in Endocrinology and Metabolism: Tem, 2022
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
A comprehensive and universal approach for embryo testing in patients with different genetic disorders.
Zhang S et al.
Clinical and Translational Medicine, 2021
Hyperammonemic Encephalopathy in an Adolescent Patient of Citrullinemia Type 1 With an Atypical Presentation.
Ruxmohan S et al.
Cureus, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.
Lin Y et al.
Journal of Inherited Metabolic Disease, 2020
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F et al.
Biomolecules, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.
Yamaguchi-Kabata Y et al.
Human Genetics, 2019
Analysis of islet beta cell functions and their correlations with liver dysfunction in patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
Lu CT et al.
Medicine, 2017
Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele.
Zhang ZH et al.
Oncotarget, 2017
Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening.
Qian J et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients.
Lu CT et al.
Experimental Biology and Medicine (maywood, N.j.), 2017
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Qiu YL et al.
Hepatology (baltimore, Md.), 2017
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
Lin WX et al.
Scientific Reports, 2016
Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance.
Zeng HS et al.
International Journal of Molecular Medicine, 2014
Screening of SLC25A13 mutation in the Thai population.
Wongkittichote P et al.
World Journal of Gastroenterology, 2013
Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency.
Wongkittichote P et al.
Journal of Inherited Metabolic Disease, 2013
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.
Song YZ et al.
Plos One, 2013
Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency.
Zhang ZH et al.
Gene, 2012
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants.
Treepongkaruna S et al.
Bmc Gastroenterology, 2012
Identification of 13 novel pathogenic SLC25A13 variants and comparison of the genetic spectrum among different geographic regions: Molecular characterization of a large cohort of citrin deficiency in China.
Cheng RL et al.
Molecular Genetics and Metabolism, 0