Associated Papers
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 2026
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V et al.
Journal of Medical Genetics, 2022
Canonical Hedgehog Pathway and Noncanonical GLI Transcription Factor Activation in Cancer.
Suchors C et al.
Cells, 2022
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
Guerrini-Rousseau L et al.
Journal of Medical Genetics, 2022
Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes.
Niida Y et al.
International Journal of Molecular Sciences, 2021
The spatial phenotype of genotypically distinct meningiomas demonstrate potential implications of the embryology of the meninges.
Fountain DM et al.
Oncogene, 2021
Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.
Li Z et al.
Clinical and Translational Medicine, 2020
Morphologic, Immunohistochemical, and Molecular Distinction Between Fibroepithelioma of Pinkus and "Fenestrated" Basal Cell Carcinoma.
Russell-Goldman E et al.
The American Journal of Dermatopathology, 2020
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Dong X et al.
Communications Biology, 2020
Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome.
Askaner G et al.
Case Reports in Genetics, 2019
Discovery of potential causative mutations in human coding and noncoding genome with the interactive software BasePlayer.
Katainen R et al.
Nature Protocols, 2018
Validating Comprehensive Next-Generation Sequencing Results for Precision Oncology: The NCT/DKTK Molecularly Aided Stratification for Tumor Eradication Research Experience.
Lier A et al.
Jco Precision Oncology, 2018
Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas.
Clark VE et al.
Nature Genetics, 2016
Desmoplastic melanoma with sarcomatoid dedifferentiation.
Kiuru M et al.
The American Journal of Surgical Pathology, 2014
Structural basis of SUFU-GLI interaction in human Hedgehog signalling regulation.
Cherry AL et al.
Acta Crystallographica. Section D, Biological Crystallography, 2013
Loss of SUFU function in familial multiple meningioma.
Aavikko M et al.
American Journal of Human Genetics, 2012