Publications by Dr Aneta Mikulasova - ePrints

Browsing publications by Dr Aneta Mikulasova.

Newcastle Authors	Title	Year
Dr Aneta Mikulasova	Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders	2024
Dr Aneta Mikulasova	A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report	2023
Dan Kent Dr Letizia Marchetti Dr Aneta Mikulasova Dr Lisa Russell Dr Daniel Rico Rodriguez et al.	Broad H3K4me3 domains: Maintaining cellular identity and their implication in super-enhancer hijacking	2023
Hannah Smith Francesco Kumara Mastrorosa Dr Giles Holt Dr Brendan Houston Dr Bilal Alobaidi et al.	A de novo paradigm for male infertility	2022
Dr Aneta Mikulasova	Chromosomal abnormalities in multiple myeloma	2022
Dr Aneta Mikulasova Dr Lisa Russell Dr Daniel Rico Rodriguez	Dynamics of broad H3K4me3 domains uncover an epigenetic switch between cell identity and cancer-related genes	2022
Dr Aneta Mikulasova Dan Kent Dr Marco Trevisan-Herraz Nefeli Karataraki Kent Fung et al.	Epigenomic translocation of H₃K₄me₃ broad domains over oncogenes following hijacking of super-enhancers	2022
Dr Simon Bomken Dr Amir Enshaei Dr Ed Schwalbe Dr Aneta Mikulasova Dr Masood Zaka et al.	Molecular characterisation and clinical outcome of B-cell precursor acute lymphoblastic leukaemia with IG-MYC rearrangement	2022
Dr Aneta Mikulasova	Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development	2022
Dr Aneta Mikulasova	Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype	2021
Dr Preeti Singh Maninder Heer Dr Anastasia Resteu Dr Aneta Mikulasova Dr Mojgan Reza et al.	GATA2 deficiency phenotype associated with tandem duplication of GATA2 and overexpression of GATA2-AS1	2021
Dr Aneta Mikulasova	Heterogenous mutation spectrum and deregulated cellular pathways in aberrant plasma cells underline molecular pathology of light-chain amyloidosis	2021
Dr Daniel Leongamornlert Dr Aneta Mikulasova	Whole-genome sequencing reveals progressive versus stable myeloma precursor conditions as two distinct entities	2021
Dr Jarmila Spegarova Dr Karin Engelhardt Dr Helen Griffin Dr Aneta Mikulasova Dr Meghan Acres et al.	Germline TET2 loss-of-function causes childhood immunodeficiency and lymphoma	2020
Dr Aneta Mikulasova Professor Graham Jackson	Microhomology-mediated end joining drives complex rearrangements and overexpression of MYC and PVT1 in multiple myeloma	2020
Dr Christopher Duncan Dr Benjamin Thompson Dr Rui Chen Dr Florian Gothe Victoria Shuttleworth et al.	Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2	2019
Dr Aneta Mikulasova	A first Czech analysis of 1887 cases with monoclonal gammopathy of undetermined significance	2017
Dr Aneta Mikulasova Professor Graham Jackson	The spectrum of somatic mutations in monoclonal gammopathy of undetermined significance indicates a less complex genomic landscape than that in multiple myeloma	2017
Dr Aneta Mikulasova	Detection of oncogenic mutations in cervical carcinoma using method High Resolution Melting (HRM)	2016
Dr Aneta Mikulasova	Genome-wide profiling of copy‑number alteration in monoclonal gammopathy of undetermined significance	2016
Dr Aneta Mikulasova	Analysis of B-cell subpopulations in monoclonal gammopathies	2015
Dr Aneta Mikulasova Professor Graham Jackson	Mutational Spectrum, Copy Number Changes, and Outcome: Results of a Sequencing Study of Patients With Newly Diagnosed Myeloma	2015
Dr Aneta Mikulasova	Genome-wide screening of cytogenetic abnormalities in multiple myeloma patients using array-CGH technique: a Czech multicenter experience	2014
Dr Aneta Mikulasova	Incidence of cytogenetic aberrations in two B lineage subpopulations in multiple myeloma patients analyzed by combination of whole-genome profiling and FISH	2014