Associated Papers
Phosphoserine aminotransferase deficiency diagnosed by whole-exome sequencing and LC-MS/MS reanalysis: A case report and review of literature.
Li J et al.
Molecular Genetics & Genomic Medicine, 2024
Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
Xie MJ et al.
Plos Genetics, 2023
Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization.
Marchesani F et al.
Biomolecules, 2023
Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Ichthyosis.
Lu Y et al.
Pediatric Neurology, 2023
Predicting the functional effect of compound heterozygous genotypes from large scale variant effect maps.
Xie MJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder.
Shen Y et al.
Frontiers in Genetics, 2022
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.
Debs S et al.
American Journal of Medical Genetics. Part A, 2021
A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.
Sirr A et al.
Journal of Inherited Metabolic Disease, 2020
Genomic Analysis of Korean Patient With Microcephaly.
Lee J et al.
Frontiers in Genetics, 2020
33584783 (PubMed )
Supplement: Table_3.xlsx › Supplementary_Table_3
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
Gu F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30700791 (PubMed )
Supplement: NIHMS1521482-supplement-Large_Excel_File_1.xlsx › ConfirmedDiagnosesAgreed
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