Associated Papers
Novel Identification of Genetic Variants in Musculoskeletal Pathways Implicated in Familial Femoroacetabular Impingement.
Wyles CC et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2025
Characterization of aberrant splicing in pediatric central nervous system tumors reveals CLK1 as a candidate oncogenic dependency.
Naqvi AS et al.
Biorxiv : the Preprint Server for Biology, 2025
39149264 (PubMed )
Supplement: media-5.xlsx › E_sf_mutations
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf
Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development.
Jin HJ et al.
Elife, 2023
38126872 (PubMed )
Supplement: elife-92769-fig2-data1.zip › Figure_2-source_data_1 › Figure_2-source_data_1 › Figure_2-source_data_1.xlsx › Table
Genetically defined individual reference ranges for tryptase limit unnecessary procedures and unmask myeloid neoplasms.
Chovanec J et al.
Blood Advances, 2023
36170795 (PubMed )
Supplement: BLOODA_ADV-2022-007936-mmc1.pdf
Mutational analysis of ribosomal proteins in a cohort of pediatric patients with T-cell acute lymphoblastic leukemia reveals Q123R, a novel mutation in RPL10.
Bacci L et al.
Frontiers in Genetics, 2022
36482893 (PubMed )
Supplement: DataSheet1.xlsx › Suppl._Table_3
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
33196013 (PubMed )
Supplement: hs9-4-e497-s007.xlsx › Sheet1
Prediction and prioritization of neoantigens: integration of RNA sequencing data with whole-exome sequencing.
Karasaki T et al.
Cancer Science, 2017
27960040 (PubMed )
Supplement: CAS-108-170-s006.xlsx › Suppl_Table_3
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