| # | Title | Journal | Year | Citations |
|---|
| 1 | The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia | Blood | 2016 | 7,429 |
| 2 | Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 | Autophagy | 2021 | 1,430 |
| 3 | Targeting MET in cancer: rationale and progress | Nature Reviews Cancer | 2012 | 1,243 |
| 4 | Osteogenesis imperfecta | Lancet, The | 2016 | 668 |
| 5 | Formation of new chromatin domains determines pathogenicity of genomic duplications | Nature | 2016 | 582 |
| 6 | Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet | Blood | 2013 | 567 |
| 7 | Repurposing Diflunisal for Familial Amyloid Polyneuropathy | JAMA - Journal of the American Medical Association | 2013 | 551 |
| 8 | JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes | Blood | 2014 | 507 |
| 9 | Long-QT Syndrome | Circulation: Arrhythmia and Electrophysiology | 2012 | 498 |
| 10 | Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes | Europace | 2013 | 494 |
| 11 | Clinical efficacy and safety of achieving very low LDL-cholesterol concentrations with the PCSK9 inhibitor evolocumab: a prespecified secondary analysis of the FOURIER trial | Lancet, The | 2017 | 487 |
| 12 | Osteogenesis imperfecta | Nature Reviews Disease Primers | 2017 | 481 |
| 13 | Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death | Nature Genetics | 2013 | 467 |
| 14 | Cardiovascular safety and efficacy of the PCSK9 inhibitor evolocumab in patients with and without diabetes and the effect of evolocumab on glycaemia and risk of new-onset diabetes: a prespecified analysis of the FOURIER randomised controlled trial | Lancet Diabetes and Endocrinology,the | 2017 | 452 |
| 15 | Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases | European Heart Journal | 2021 | 434 |
| 16 | A European collaborative study of treatment outcomes in 346 patients with cardiac stage III AL amyloidosis | Blood | 2013 | 385 |
| 17 | Clinical significance of somatic mutation in unexplained blood cytopenia | Blood | 2017 | 379 |
| 18 | Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes | Nature Medicine | 2020 | 372 |
| 19 | A staging system for renal outcome and early markers of renal response to chemotherapy in AL amyloidosis | Blood | 2014 | 366 |
| 20 | SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts | Blood | 2015 | 361 |
| 21 | Systemic immunoglobulin light chain amyloidosis | Nature Reviews Disease Primers | 2018 | 350 |
| 22 | Dilated cardiomyopathy | Nature Reviews Disease Primers | 2019 | 347 |
| 23 | Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis | Journal of the American College of Cardiology | 2015 | 344 |
| 24 | Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis | Blood | 2014 | 340 |
| 25 | Diagnosis of monoclonal gammopathy of renal significance | Kidney International | 2015 | 339 |
| 26 | A European collaborative study of cyclophosphamide, bortezomib, and dexamethasone in upfront treatment of systemic AL amyloidosis | Blood | 2015 | 334 |
| 27 | Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants | Circulation | 2013 | 331 |
| 28 | Paracrine Mechanisms of Mesenchymal Stem Cells in Tissue Repair | Methods in Molecular Biology | 2016 | 318 |
| 29 | Prevalence and clinical significance of the MYD88 (L265P) somatic mutation in Waldenström’s macroglobulinemia and related lymphoid neoplasms | Blood | 2013 | 290 |
| 30 | Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria | International Journal of Cardiology | 2020 | 283 |
| 31 | The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy | European Heart Journal | 2013 | 282 |
| 32 | Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization | Nature Genetics | 2014 | 281 |
| 33 | Identification of rare sequence variation underlying heritable pulmonary arterial hypertension | Nature Communications | 2018 | 279 |
| 34 | Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo | Cancer Cell | 2014 | 272 |
| 35 | Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1 | Blood | 2013 | 266 |
| 36 | Rapid Proton-Detected NMR Assignment for Proteins with Fast Magic Angle Spinning | Journal of the American Chemical Society | 2014 | 254 |
| 37 | Integrating clinical features and genetic lesions in the risk assessment of patients with chronic myelomonocytic leukemia | Blood | 2016 | 249 |
| 38 | Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis | European Heart Journal | 2020 | 239 |
| 39 | ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI expert consensus recommendations for multimodality imaging in cardiac amyloidosis: Part 1 of 2—evidence base and standardized methods of imaging | Journal of Nuclear Cardiology | 2019 | 230 |
| 40 | Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms | Blood | 2016 | 228 |
| 41 | Dystonia | Nature Reviews Disease Primers | 2018 | 223 |
| 42 | Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia | Blood | 2014 | 222 |
| 43 | Clinical neurocardiology defining the value of neuroscience‐based cardiovascular therapeutics | Journal of Physiology | 2016 | 222 |
| 44 | Differential clinical effects of different mutation subtypes in CALR-mutant myeloproliferative neoplasms | Leukemia | 2016 | 216 |
| 45 | Systemic light chain amyloidosis: an update for treating physicians | Blood | 2013 | 214 |
| 46 | Clinical Benefit of Evolocumab by Severity and Extent of Coronary Artery Disease | Circulation | 2018 | 200 |
| 47 | Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms | Blood | 2017 | 199 |
| 48 | Protein-based biofilm matrices in Staphylococci | Frontiers in Cellular and Infection Microbiology | 2014 | 195 |
| 49 | SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS | Blood | 2020 | 195 |
| 50 | Light Chain Amyloidosis: Patient Experience Survey from the Amyloidosis Research Consortium | Advances in Therapy | 2015 | 187 |
