Associated Papers
Comprehensive genomic landscape of metastatic hormone-sensitive prostate cancer in the Chinese population.
Yang B et al.
World Journal of Surgical Oncology, 2025
41121095 (PubMed )
Supplement: 12957_2025_4049_MOESM3_ESM.xlsx › Somatic_mutations
Correction to "The Impact of SETBP1 Mutations in Neurological Diseases and Cancer".
Unknown Author
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2025
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Aspromonte MC et al.
Human Genetics, 2025
Prenatal diagnosis of intellectual disability, autosomal dominant 29 with a nonsense pathogenic variant in SETBP1: a case report and literature review.
Wei Z et al.
Frontiers in Genetics, 2025
40144891 (PubMed )
Supplement: Table1.xlsx › cases
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants
Novel SETBP1 mutation in a chinese family with intellectual disability.
Wang L et al.
Bmc Medical Genomics, 2023
37798664 (PubMed )
Supplement: 12920_2023_1649_MOESM1_ESM.xlsx › Table_3_overall_data
The impact of SETBP1 mutations in neurological diseases and cancer.
Kohyanagi N et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2023
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4
Speech and language deficits are central to SETBP1 haploinsufficiency disorder.
Morgan A et al.
European Journal of Human Genetics : Ejhg, 2021
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
EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53.
Bogusz AM
Case Reports in Hematology, 2017
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