Associated Papers
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction
Galloway-mowat syndrome 3 (GAMOS3): a novel disease-causing variant in OSGEP gene and expansion of the clinical spectrum.
Yari A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Excluded
Genetic diagnosis of fetal microcephaly at a single tertiary center in China.
Wang Y et al.
Frontiers in Genetics, 2023
Galloway-Mowat Syndrome Type 3 Caused by OSGEP Gene Variants: A Case Report and Literature Review.
Xu S et al.
Frontiers in Pediatrics, 2022
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.
Ali Alghamdi M et al.
Frontiers in Genetics, 2022
Modifications of the human tRNA anticodon loop and their associations with genetic diseases.
Zhou JB et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Molecular basis for t6A modification in human mitochondria.
Zhou JB et al.
Nucleic Acids Research, 2020
Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
Domingo-Gallego A et al.
Bmc Nephrology, 2019
Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations.
Wang PZT et al.
Pediatric Nephrology (berlin, Germany), 2018
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA et al.
Nature Genetics, 2017
tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.
Edvardson S et al.
European Journal of Human Genetics : Ejhg, 2017
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