Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports.
Abuduxikuer K et al.
World Journal of Clinical Cases, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shimada S et al.
Journal of Medical Genetics, 2022
Identifying Potential Neoantigens for Cervical Cancer Immunotherapy Using Comprehensive Genomic Variation Profiling of Cervical Intraepithelial Neoplasia and Cervical Cancer.
Bao C et al.
Frontiers in Oncology, 2021
34221990 (PubMed )
Supplement: Table_3.xlsx › Table_3
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Mannosyl-oligosaccharide glucosidase - congenital disorder of glycosylation: A patient with novel variants.
Ota M et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2020
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