Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies.
Luiza Benevides M et al.
Epilepsy & Behavior : E&b, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
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
Adult GAMT deficiency: A literature review and report of two siblings.
Modi BP et al.
Molecular Genetics and Metabolism Reports, 2021
Creatine biosynthesis and transport in health and disease.
Joncquel-Chevalier Curt M et al.
Biochimie, 2015
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.
Mercimek-Mahmutoglu S et al.
Human Mutation, 2014
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
Cheillan D et al.
Orphanet Journal of Rare Diseases, 2012
Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.
Dhar SU et al.
Molecular Genetics and Metabolism, 2009
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.
Caldeira Araújo H et al.
American Journal of Medical Genetics. Part A, 2005
Case Series of Creatine Deficiency Syndrome due to Guanidinoacetate Methyltransferase Deficiency.
Narayan V et al.
Annals of Indian Academy of Neurology, 0
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