Krisztina Zuborne Alapi

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy

Giovanni Quarta, Petros Syrris, Michael T. Ashworth et al. · European Heart Journal · 2011 · 246 citations · Full text

Activation of the LMO2 oncogene through a somatically acquired neomorphic promoter in T-cell acute lymphoblastic leukemia

Sunniyat Rahman, Michael Magnussen, Theresa E. León et al. · Blood · 2017 · 79 citations · Full text

Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene

Melinda Erdös, Krisztina Zuborne Alapi, István Balogh et al. · Experimental Hematology · 2006 · 29 citations · Full text

Allelic Variant, Mendelian Disorder, Genetic Disorder +9

Prevalence of Sequence Variants in the RAS-Mitogen Activated Protein Kinase Signaling Pathway in Pre-Adolescent Children With Hypertrophic Cardiomyopathy

Juan Pablo Kaski, Petros Syrris, Adam Shaw et al. · Circulation Cardiovascular Genetics · 2012 · 26 citations · Full text

Diagnostic utility of whole genome sequencing in adults with B-other acute lymphoblastic leukemia

Daniel Leongamornlert, Jesús Gutiérrez‐Abril, SooWah Lee et al. · Blood Advances · 2023 · 26 citations · Full text

Mixed-phenotype Acute Leukemia, Genetics, Pathology +18