Associated Papers
Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain.
Muhammad A et al.
Epilepsia Open, 2026
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 2025
Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.
Gibson LM et al.
International Journal of Molecular Sciences, 2025
Looking beyond year 1 in the molecular era of pediatric brain tumor diagnosis: confirmatory testing of germline variants found on tumor sequencing.
Greene BL et al.
Frontiers in Oncology, 2024
Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.
Yang LP et al.
Cell Reports. Medicine, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Endometrial, Ovarian, and Peritoneal Involvement by Endometrioid Carcinoma, Yolk Sac Tumor, and Endometriosis: Molecular Evidence for a Shared Precursor.
Halling GC et al.
International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2023
Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.
Robinson PS et al.
Nature Communications, 2022
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.
Miller EM et al.
Bmc Medical Genomics, 2020
Molecular characterization of uterine and ovarian tumors with mixed epithelial and germ cell features confirms frequent somatic derivation.
Skala SL et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Efficient mutation screening for cervical cancers from circulating tumor DNA in blood.
Lee SY et al.
Bmc Cancer, 2020
Phase and context shape the function of composite oncogenic mutations.
Gorelick AN et al.
Nature, 2020
Co-occurring Alterations in the RAS-MAPK Pathway Limit Response to MET Inhibitor Treatment in MET Exon 14 Skipping Mutation-Positive Lung Cancer.
Rotow JK et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020
Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.
Durham BH et al.
Nature Medicine, 2019
RET Aberrations in Diverse Cancers: Next-Generation Sequencing of 4,871 Patients.
Kato S et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
Systematic Functional Interrogation of Rare Cancer Variants Identifies Oncogenic Alleles.
Kim E et al.
Cancer Discovery, 2016
Mismatch repair deficiency associated with complete remission to combination programmed cell death ligand immune therapy in a patient with sporadic urothelial carcinoma: immunotheranostic considerations.
Castro MP et al.
Journal for Immunotherapy of Cancer, 2015
Patterns of somatic alterations between matched primary and metastatic colorectal tumors characterized by whole-genome sequencing.
Xie T et al.
Genomics, 2014