Associated Papers
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2.
Fang S et al.
Journal of Inherited Metabolic Disease, 2025
40320765 (PubMed )
Supplement: JIMD-48-0-s001.xlsx › Sheet1
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
A novel homozygous SLC39A14 variant in an infant with hypermanganesemia and a review of the literature.
Zhang M et al.
Frontiers in Pediatrics, 2022
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Almontashiri NAM et al.
Scientific Reports, 2020
32523032 (PubMed )
Supplement: 41598_2020_66401_MOESM3_ESM.xlsx › Table_S2
The Functions of ZIP8, ZIP14, and ZnT10 in the Regulation of Systemic Manganese Homeostasis.
Winslow JWW et al.
International Journal of Molecular Sciences, 2020
Genetic Disorders of Manganese Metabolism.
Anagianni S et al.
Current Neurology and Neuroscience Reports, 2019
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.
Rodan LH et al.
Molecular Genetics and Metabolism, 2018
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