Associated Papers
Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases.
Sinha S et al.
Nature Communications, 2025
40087273 (PubMed )
Supplement: 41467_2025_57695_MOESM3_ESM.xlsx › Supplementary_Data_1
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.
Geysens M et al.
Genome Medicine, 2025
"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S et al.
Acta Neuropathologica, 2023
38079020 (PubMed )
Supplement: 401_2023_2654_MOESM2_ESM.xlsx › Table_S3
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia.
Zhang H et al.
Bmc Medical Genetics, 2019
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