Associated Papers
Single-cell Transcriptional Atlas of Human Hematopoiesis Reveals Genetic and Hierarchy-Based Determinants of Aberrant AML Differentiation.
Zeng AGX et al.
Blood Cancer Discovery, 2025
Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.
Ikoma Y et al.
Leukemia, 2025
Detection of KMT2A Partial Tandem Duplication by Optical Genome Mapping in Myeloid Neoplasms: Associated Cytogenetics, Gene Mutations, Treatment Responses, and Patient Outcomes.
Wei Q et al.
Cancers, 2024
A case of familial donor-derived acute myeloid leukemia with underlying pre-leukemic mutations.
Cappelli LV et al.
Haematologica, 2024
Whole Exome Sequencing of Intermediate-Risk Acute Myeloid Leukemia without Recurrent Genetic Abnormalities Offers Deeper Insights into New Diagnostic Classifications.
Guijarro F et al.
International Journal of Molecular Sciences, 2024
Aging and comprehensive molecular profiling in acute myeloid leukemia.
Li JF et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.
Pu X et al.
Cell & Bioscience, 2023
Compartment-specific mutational landscape of clonal hematopoiesis.
Hartmann L et al.
Leukemia, 2022
SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.
Medeiros JJF et al.
Bioinformatics (oxford, England), 2022
X-linked BCOR-related syndrome in two male siblings.
Archer NE et al.
Clinical Dysmorphology, 2021
Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders.
Cinnirella G et al.
Clinical Genetics, 2020
Genomic landscape of platinum resistant and sensitive testicular cancers.
Loveday C et al.
Nature Communications, 2020
Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.
O'Byrne JJ et al.
American Journal of Medical Genetics. Part A, 2017
Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.
Delio M et al.
Plos One, 2015
Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.
Feberwee HE et al.
Clinical Genetics, 2014
BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders.
Damm F et al.
Blood, 2013
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Hilton E et al.
European Journal of Human Genetics : Ejhg, 2009