Associated Papers
Case Report: Genomic characterization of a rare skull-base plasmacytoma.
Alanya H et al.
Frontiers in Oncology, 2025
Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome.
Shah SS et al.
American Journal of Medical Genetics. Part A, 2023
The Diagnostic Utility of Cell-Free DNA from Ex Vivo Bronchoalveolar Lavage Fluid in Lung Cancer.
Otake S et al.
Cancers, 2022
35406535 (PubMed )
Supplement: cancers-14-01764-s001.zip › Supplementary_Table_S3.pdf
Therapy-related Acute Lymphoblastic Leukaemia has a Unique Genetic Profile Compared to De Novo Acute Lymphoblastic Leukaemia.
Kook HW et al.
Journal of Cancer, 2022
36186901 (PubMed )
Supplement: jcav13p3326s1.pdf
MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.
Ikegami M et al.
Communications Biology, 2021
34912045 (PubMed )
Supplement: 42003_2021_2930_MOESM4_ESM.xlsx › Target_sequencing_clinical
Intestinal metaplasia of the urinary tract harbors potentially oncogenic genetic variants.
Acosta AM et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021
Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.
Scholl SM et al.
Ebiomedicine, 2020
33096476 (PubMed )
Supplement: mmc2.xlsx › RAIDS_algo_filtering_wLOH_forma
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition.
Burger JA et al.
Nature Communications, 2016
27199251 (PubMed )
Supplement: ncomms11589-s2.xlsx › MM_workingCopy-1.txt
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Micale L et al.
Human Mutation, 2014
24633898 (PubMed )
Supplement: humu0035-0841-SD2.pdf
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P et al.
Clinical Genetics, 2013
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
Banka S et al.
European Journal of Human Genetics : Ejhg, 2012
Select a paper to view details