Associated Papers
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
Prenatally and postnatally sequential genetic etiology detection in corpus callosum abnormalities.
Xue H et al.
Scientific Reports, 2025
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
Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases.
Ouyang X et al.
Frontiers in Genetics, 2025
Structures of KEOPS bound to tRNA reveal functional roles of the kinase Bud32.
Ona Chuquimarca SM et al.
Nature Communications, 2024
Phenotype, genotype, and clinical outcome of Taiwanese with congenital nephrotic syndrome.
Tseng MH et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2024
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB et al.
Nature Medicine, 2023
Genetic diagnosis of fetal microcephaly at a single tertiary center in China.
Wang Y et al.
Frontiers in Genetics, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Galloway-Mowat Syndrome Type 3 Caused by OSGEP Gene Variants: A Case Report and Literature Review.
Xu S et al.
Frontiers in Pediatrics, 2022
A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.
Hong SY et al.
Journal of Personalized Medicine, 2020
Fetal phenotype of Galloway-Mowat syndrome 3 caused by a specific OSGEP variant.
Yang Y et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2019
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.
Lin PY et al.
Orphanet Journal of Rare Diseases, 2018
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA et al.
Nature Genetics, 2017