Associated Papers
A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.
Okada T et al.
Journal of Atherosclerosis and Thrombosis, 2026
Long-Standing Bilateral Adult-Onset Orbital Xanthogranuloma With Unique Histologic Findings Uncovering the Diagnosis of Sitosterolemia.
Gambichler T et al.
The American Journal of Dermatopathology, 2025
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Clinical application of expanded carrier screening based on next-generation sequencing in the Chinese population.
Lu J et al.
Archives of Gynecology and Obstetrics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.
Gök V et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Opportunistic Detection of Phytosterolemia During Genetic Testing for FH: Case Series and Contextual Review.
Loh WJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Homozygous phytosterolemia and a literature review: A case report.
Jiang CX et al.
World Journal of Clinical Cases, 2025
Clinical, genetic characteristics and long-term follow-up of sitosterolemia in children.
Huang S et al.
Translational Pediatrics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 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
Cerebral involvement in sitosterolemia.
Li F et al.
Lipids in Health and Disease, 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
Sitosterolemia With Two Heterozygous Variants Including a Novel Mutation c.1800T>A in the ABCG5 Gene: A Case Report of a Rare Condition in a Young Saudi Girl.
Alquraishi AS et al.
Cureus, 2024
Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations.
Del Castillo J et al.
Blood Advances, 2024
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
Khabou B et al.
Annals of Human Genetics, 2024
Two Cases of Sitosterolemia Falsely Diagnosed as Familial Hypercholesterolemia: Could Digging Deeper Have Avoided Harm?
Guay SP et al.
Jcem Case Reports, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
[Child with sitosterolemia initially presenting with hemolytic anemia and thrombocytopenia: a case repore and literrature review].
Zhao ZY et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2024
Cardiovascular disease risk in patients with elevated LDL-C levels: FH vs. non-FH.
Huang H et al.
Frontiers in Cardiovascular Medicine, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice.
Miroshnikova VV et al.
Journal of Personalized Medicine, 2023
Targeted sequencing of a gene panel in patients with familial hypercholesterolemia from Southern Poland.
Totoń-Żurańska J et al.
Polish Archives of Internal Medicine, 2023
Stomatocytes and macrothrombocytes: Clues to a rare genetic diagnosis.
Zhang J et al.
Pediatric Blood & Cancer, 2023
Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China.
Zhang Q et al.
Bmc Pediatrics, 2023
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
Differential Effects of ABCG5/G8 Gene Region Variants on Lipid Profile, Blood Pressure Status, and Gallstone Disease History in Taiwan.
Teng MS et al.
Genes, 2023
Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5.
Tada H et al.
Internal Medicine (tokyo, Japan), 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.
Kim YJ et al.
Nature Communications, 2022
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
Gandhi GD et al.
Journal of Translational Medicine, 2022
Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.
Rutkowska L et al.
Genes, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.
Huang CC et al.
Journal of Atherosclerosis and Thrombosis, 2022
Acute Coronary Syndrome Developed in a 17-year-old Boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature.
Iyama K et al.
Internal Medicine (tokyo, Japan), 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Features of chinese patients with sitosterolemia.
Zhou Z et al.
Lipids in Health and Disease, 2022
Pediatric patients with familially inherited sitosterolemia: Two case reports.
Su SQ et al.
Frontiers in Cardiovascular Medicine, 2022
Seventeen years of misdiagnosis in rare dyslipidaemia: a case report of sitosterolaemia in a young female.
Frederiksen TC et al.
European Heart Journal. Case Reports, 2021
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Miroshnikova VV et al.
Biomedical Reports, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy.
Deng L et al.
Frontiers in Genetics, 2021
Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.
Wang H et al.
Journal of Atherosclerosis and Thrombosis, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020