Associated Papers
An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene.
Gu H et al.
Genetics in Medicine Open, 2025
41542347 (PubMed )
Supplement: mmc2.xlsx › KAT6B_supplementary
Expanding the molecular landscape of childhood apraxia of speech: evidence from a single-center experience.
Formicola D et al.
Frontiers in Neuroscience, 2024
Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.
Burr R et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37808694 (PubMed )
Supplement: media-2.xlsx › Patient_5
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
Genetic alterations and their therapeutic implications in epithelial ovarian cancer.
Lapke N et al.
Bmc Cancer, 2021
33947352 (PubMed )
Supplement: 12885_2021_8233_MOESM5_ESM.xlsx › Additional_file_5
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM5_ESM.xlsx › Supplementary_Data_3
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