Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT.
Afjei SA et al.
Neurogenetics, 2023
Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran.
Nejabat M et al.
Frontiers in Pediatrics, 2021
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H et al.
European Journal of Human Genetics : Ejhg, 2020
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
Desroches CL et al.
Molecular Genetics and Genomics : Mgg, 2015
Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle.
Ensenauer R et al.
Molecular Genetics and Metabolism, 2004
Characterization of seven novel mutations in seven patients with GAMT deficiency.
Item CB et al.
Human Mutation, 2004
Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency.
Item CB et al.
Molecular Genetics and Metabolism, 0
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