Associated Papers
99 Chinese ASS1 carriers: Genetics, metabolism, and citrulline levels.
Cen Z et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
Gene Editing of Pluripotent Stem Cell-Derived Hepatic Cells for Liver Disease Modeling and Therapeutic Development.
Lim D et al.
Biomolecules & Therapeutics, 2026
Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants.
Hajati R et al.
Bmc Medical Genomics, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Clinical characteristics and long-term outcomes of 101 patients with urea cycle disorders in China.
Cen Z et al.
Orphanet Journal of Rare Diseases, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Rare Pathogenic Variants in Pooled Whole-Exome Sequencing Data Suggest Hyperammonemia as a Possible Cause of Dementia Not Classified as Alzheimer's Disease or Frontotemporal Dementia.
Karachanak-Yankova S et al.
Genes, 2024
Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder.
Amirkashani D et al.
American Journal of Ophthalmology Case Reports, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Visualization of argininosuccinate synthetase by in silico analysis: novel insights into citrullinemia type I disorders.
Gu X et al.
Frontiers in Molecular Biosciences, 2024
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
Maier EM et al.
Journal of Inherited Metabolic Disease, 2023
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.
Daou M et al.
Molecular Genetics & Genomic Medicine, 2023
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I.
Liu J et al.
Frontiers in Genetics, 2023
Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review.
Zhou Y et al.
Bmc Pregnancy and Childbirth, 2022
Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series.
Hassanlou M et al.
International Journal of Reproductive Biomedicine, 2022
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Spectrum of Common and Rare Small Molecule Inborn Errors of Metabolism Diagnosed in a Tertiary Care Center of Maharashtra, India.
Tamrakar A et al.
Cureus, 2022
Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations.
Moarefian S et al.
Jimd Reports, 2022
Clinical and Genetic Spectrum of 50 Children with Inborn Errors of Metabolism from Central India.
Passi GR et al.
Indian Journal of Pediatrics, 2022
Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations.
Xiong M et al.
Frontiers in Pediatrics, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Staretz-Chacham O et al.
Journal of Inherited Metabolic Disease, 2021
Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.
Randon DN et al.
Genetics and Molecular Biology, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Robust, Long-Term Culture of Endoderm-Derived Hepatic Organoids for Disease Modeling.
Akbari S et al.
Stem Cell Reports, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Silvera-Ruiz SM et al.
Orphanet Journal of Rare Diseases, 2019
Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation.
Janwadkar A et al.
Indian Journal of Pediatrics, 2019
Recessive gene disruptions in autism spectrum disorder.
Doan RN et al.
Nature Genetics, 2019
Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.
Lin Y et al.
Bmc Medical Genetics, 2019
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wang W et al.
Bmc Medical Genetics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay S et al.
Orphanet Journal of Rare Diseases, 2018
First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).
Kose E et al.
Journal of Clinical Pharmacy and Therapeutics, 2018
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A et al.
Archives of Disease in Childhood, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017