Associated Papers
Early-Onset Inherited Metabolic Diseases: When Clinical Symptoms Precede Newborn Screening-Insights from Emilia-Romagna (Italy).
Montanari G et al.
Children (basel, Switzerland), 2025
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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Hou YC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
31980526 (PubMed )
Supplement: pnas.1909378117.sapp.pdf
Citrullinaemia type I: a common mutation in the Pacific Island population.
Glamuzina E et al.
Journal of Paediatrics and Child Health, 2011
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
Engel K et al.
Human Mutation, 2009
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