Eguzkine Ochoa
University of Cambridge(GB)National Institute for Health Research(GB)
Publications by Year
Research Areas
Genetic Syndromes and Imprinting, Epigenetics and DNA Methylation, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Genomics and Phylogenetic Studies
Most-Cited Works
- → Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis(2014)204 cited
- → PrimerPooler: automated primer pooling to prepare library for targeted sequencing(2017)49 cited
- → Angioimmunoblastic T cell lymphoma: novel molecular insights by mutation profiling(2017)48 cited
- → Significant association between TNFAIP3 inactivation and biased immunoglobulin heavy chain variable region 4‐34 usage in mucosa‐associated lymphoid tissue lymphoma(2017)32 cited
- → Thrombotic Antiphospholipid Syndrome Shows Strong Haplotypic Association with SH2B3-ATXN2 Locus(2013)26 cited
- → LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers(2016)25 cited
- → ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance(2021)24 cited
- → A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn’s disease(2020)24 cited
- → SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice(2019)23 cited
- → Comparison of Methylation Episignatures in KMT2B - and KMT2D -Related Human Disorders(2022)20 cited