Associated Papers
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 2025
41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs
Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.
Axelsson TA et al.
Bju International, 2025
39654327 (PubMed )
Supplement: BJU-135-792-s001.xlsx › Sheet1
Cancer risk assessment of premalignant breast tissues from patients with BRCA mutations by genome profiling.
Hirose T et al.
Npj Breast Cancer, 2024
39366967 (PubMed )
Supplement: 41523_2024_693_MOESM2_ESM.xlsx › Supplementary_Data_2
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J et al.
Genes, 2021
34202860 (PubMed )
Supplement: genes-12-00968-s001.zip › genes-1248377-supplementary.pdf
Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.
Cross E et al.
American Journal of Medical Genetics. Part A, 2020
Clonal dynamics of donor-derived myelodysplastic syndrome after unrelated hematopoietic cell transplantation for high-risk pediatric B-lymphoblastic leukemia.
Schwartz JR et al.
Cold Spring Harbor Molecular Case Studies, 2018
29891567 (PubMed )
Supplement: supp_mcs.a002980_Supplemental_Tables.xlsx › Sup.6_-_ALL_Muts__Halo_
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Spena S et al.
Clinical Genetics, 2015
Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.
Yoo HJ et al.
International Journal of Molecular Sciences, 2015
25768348 (PubMed )
Supplement: ijms-16-05697-s001.pdf
CREBBP HAT domain mutations prevail in relapse cases of high hyperdiploid childhood acute lymphoblastic leukemia.
Inthal A et al.
Leukemia, 2012
Rubinstein-Taybi syndrome: clinical and molecular overview.
Roelfsema JH et al.
Expert Reviews in Molecular Medicine, 2007
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