Associated Papers
Natural History of Germline BRCA1 Mutated and BRCA Wild-type Triple-negative Breast Cancer.
Gardi N et al.
Cancer Research Communications, 2024
38315150 (PubMed )
Supplement: crc-23-0277-s12.xlsx › Supplementary_Table_S5
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
38440187 (PubMed )
Supplement: Table3.xlsx › Sheet1
Congenital hyperinsulinemic hypoglycemia (HH) requiring treatment as the presenting feature of Kabuki syndrome.
Souabni SA et al.
Clinical Case Reports, 2023
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Wigby K et al.
American Journal of Medical Genetics. Part A, 2023
Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts.
Ito T et al.
Scientific Reports, 2023
36869079 (PubMed )
Supplement: 41598_2023_30624_MOESM2_ESM.xlsx › Table_S5
Assessment of aggressive bladder cancer mutations in plasma cell-free DNA.
Carrasco R et al.
Frontiers in Oncology, 2023
38098507 (PubMed )
Supplement: DataSheet_3.xlsx › Pt_1
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Peng W et al.
Nature Communications, 2022
35273153 (PubMed )
Supplement: 41467_2022_28840_MOESM7_ESM.xlsx › Sheet1
Whole-Exome Sequencing Could Distinguish Primary Pulmonary Squamous Cell Carcinoma From Lung Metastases in Individuals With Cervical Squamous Cell Carcinoma.
Li L et al.
Pathology Oncology Research : Por, 2022
35645619 (PubMed )
Supplement: DataSheet1.xlsx › Supptable_2_Somatic_mutation
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Faundes V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.
Kiefer KC et al.
Esc Heart Failure, 2021
33779075 (PubMed )
Supplement: EHF2-8-1873-s002.xlsx › Sheet1
Clinical and mutational profiles of adult medulloblastoma groups.
Wong GC et al.
Acta Neuropathologica Communications, 2020
33172502 (PubMed )
Supplement: 40478_2020_1066_MOESM2_ESM.xlsx › S4_Targeted_sequencing_mutation
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.
Viel A et al.
Ebiomedicine, 2017
28551381 (PubMed )
Supplement: mmc7.pdf
Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review.
Gole H et al.
Clinics and Practice, 2016
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