Associated Papers
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.
Wong MMK et al.
Nature Communications, 2025
Correction to "The Impact of SETBP1 Mutations in Neurological Diseases and Cancer".
Unknown Author
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2025
Clinical outcomes of patients diagnosed with SETBP1 mutated myeloid neoplasms.
Jabban Y et al.
Leukemia & Lymphoma, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.
Zheng J et al.
Bmc Pediatrics, 2024
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.
Ramamoorthy S et al.
British Journal of Haematology, 2024
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Kowanda M et al.
Genetics in Medicine Open, 2024
The impact of SETBP1 mutations in neurological diseases and cancer.
Kohyanagi N et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2023
Leukocytes carrying Clonal Hematopoiesis of Indeterminate Potential (CHIP) Mutations invade Human Atherosclerotic Plaques.
von Scheidt M et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.
Chuan Z et al.
Frontiers in Genetics, 2022
Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel-Giedion syndrome.
Yang H et al.
Frontiers in Pediatrics, 2022
Whole-genome sequencing combined RNA-sequencing analysis of patients with mutations in SET binding protein 1.
Liu L et al.
Frontiers in Neuroscience, 2022
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
Molecular Targeted Therapy and Immunotherapy for Myelodysplastic Syndrome.
Lee P et al.
International Journal of Molecular Sciences, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy".
Leonardi E et al.
Frontiers in Neurology, 2020
Analysis of Potential Alterations Affecting SETBP1 as a Novel Contributing Mechanism to Inhibit PP2A in Colorectal Cancer Patients.
Torrejón B et al.
World Journal of Surgery, 2018
Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.
Park JH et al.
Translational Oncology, 2018
Clinical spectrum and clonal evolution in germline syndromes with predisposition to myeloid neoplasms.
Perez Botero J et al.
British Journal of Haematology, 2018
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Acuna-Hidalgo R et al.
Plos Genetics, 2017