Associated Papers
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1
Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis.
Kawai T et al.
European Journal of Medical Genetics, 2023
Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.
Sakihama S et al.
Cancer Science, 2021
33426772 (PubMed )
Supplement: CAS-112-1300-s002.xlsx › Table_S4
Landscape of Genomic Alterations in IDH Wild-Type Glioblastoma Identifies PI3K as a Favorable Prognostic Factor.
Yan Y et al.
Jco Precision Oncology, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing.
Sheffield BS et al.
Plos One, 2015
25798586 (PubMed )
Supplement: pone.0119689.s004.xlsx › Vaginal_SNVs_and_indels
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