Get started
Author

Wei‐Xia Lin

Observed names: Wei-Xia Lin, Weixia Lin
ORCID: 0000-0003-2928-250X
Observed ORCID: 0000-0003-2928-250X
OpenAlex ID: A5102800865
SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China
2013 · Yuan-Zong Song, Zhan-Hui Zhang, et al. · PLoS ONE · 63
PDF
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution
2016 · Wei-Xia Lin, Han-Shi Zeng, et al. · Scientific Reports · 56
PDF
Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia
2017 · Jian-Wu Qiu, Mei Deng, et al. · Oncotarget · 39
PDF
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
2012 · Zhan-Hui Zhang, Wei-Xia Lin, et al. · Gene · 24
Clinical, Molecular and Functional Investigation on an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD)
2014 · Zhan-Hui Zhang, Wei-Xia Lin, et al. · PLoS ONE · 18
PDF
Clinical characterization of NTCP deficiency in paediatric patients : A case‐control study based on SLC10A1 genotyping analysis
2021 · Li‐Jing Deng, Wen‐Xian Ouyang, et al. · Liver International · 17
PDF
[Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1].
2017 · Wei-Xia Lin, Qi-Qi Zheng, et al. · PubMed · 15
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
2017 · Zhan-Hui Zhang, Wei-Xia Lin, et al. · Oncotarget · 13
PDF
Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: A clinical, genetic and transcriptional analysis
2012 · Wei-Xia Lin, Zhan-Hui Zhang, et al. · Gene · 13
Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China
2021 · Wei-Xia Lin, Muhammad Rauf Yaqub, et al. · Translational Pediatrics · 12
PDF
Identification of a LargeSLC25A13Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study
2016 · Qi-Qi Zheng, Zhan-Hui Zhang, et al. · BioMed Research International · 11
PDF
[Clinical and genetic analysis of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency].
2018 · Hua Li, Jian-Wu Qiu, et al. · PubMed · 9
Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency: In vivo and in vitro studies of the aberrant transcription arising from two novel splice-site variants in SLC25A13
2021 · Wei-Xia Lin, Li-Jing Deng, et al. · European Journal of Medical Genetics · 8
PDF
[Clinical features and ABCC2 genotypic analysis of an infant with Dubin-Johnson syndrome].
2019 · Lu-Lu Meng, Jian-Wu Qiu, et al. · PubMed · 6
SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency
2016 · Han-Shi Zeng, Wei-Xia Lin, et al. · Molecular Medicine Reports · 5
PDF
[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].
2013 · Chun-Ting Lu, Li Guo, et al. · PubMed · 5
[Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome].
2016 · Mei Deng, Wei-Xia Lin, et al. · PubMed · 4
[DGUOK-related mitochondrial DNA depletion syndrome: a case report and literature review].
2020 · Gui-Zhi Lin, Jian-Wu Qiu, et al. · PubMed · 3
Preoperative prediction of cervical cancer recurrence using explainable MRI radiomics: a SHAP-Guided machine learning study
2025 · Weixia Lin, Xiaoyu Lan, et al. · Abdominal Radiology · 1
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
2025 · Rui-Lan Cheng, Jian-Wu Qiu, et al. · Molecular Genetics and Metabolism · 1
Molecular Epidemiology of Na+-Taurocholate Cotransporting Polypeptide Deficiency in Guangdong Province, China: A Pilot Study by Screening for Four Prevalent Variants of the Causative Gene SLC10A1
2022 · Hua Li, Rong Chen, et al. · Frontiers in Genetics · 1
PDF
[Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa].
2015 · Li Guo, Weixia Lin, et al. · PubMed · 1
Genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1: novel ATP8B1 variants and genotype–phenotype correlations
2026 · Hui Lin, Xiao-Rong Peng, et al. · European Journal of Pediatrics
The Effect of NTCP Deficiency in Pregnancy on Maternal and Fetal Outcomes: A Case-control Study Based on SLC10A1 Genetic Analysis
2025 · Wei-Xia Lin, Rong Chen, et al. · SSRN Electronic Journal
Physical and neuropsychological development of children with Citrin deficiency.
2021 · Ni-Si Zhang, Zhan-Hui Zhang, et al. · PubMed
Works count: 33
Citation count: 325
H-index: 11
I10-index: 11
Year
Topic
Type