| # | Title | Journal | Year | Citations |
|---|
| 1 | Prognosis for patients with CML and >10% BCR-ABL1 after 3 months of imatinib depends on the rate of BCR-ABL1 decline | Blood | 2014 | 182 |
| 2 | Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies | Blood | 2016 | 179 |
| 3 | Early molecular response and female sex strongly predict stable undetectable BCR-ABL1, the criteria for imatinib discontinuation in patients with CML | Blood | 2013 | 153 |
| 4 | Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease | Blood | 2018 | 152 |
| 5 | The VHL-dependent regulation of microRNAs in renal cancer | BMC Medicine | 2010 | 150 |
| 6 | ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants | Blood Advances | 2019 | 110 |
| 7 | RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML | Blood Advances | 2020 | 102 |
| 8 | Laying the foundation for genomically-based risk assessment in chronic myeloid leukemia | Leukemia | 2019 | 97 |
| 9 | Compound mutations in BCR-ABL1 are not major drivers of primary or secondary resistance to ponatinib in CP-CML patients | Blood | 2016 | 87 |
| 10 | Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA) | Blood | 2020 | 79 |
| 11 | Myeloid neoplasms with germline DDX41 mutation | International Journal of Hematology | 2017 | 77 |
| 12 | A certified plasmid reference material for the standardisation of BCR–ABL1 mRNA quantification by real-time quantitative PCR | Leukemia | 2015 | 72 |
| 13 | Poor response to second-line kinase inhibitors in chronic myeloid leukemia patients with multiple low-level mutations, irrespective of their resistance profile | Blood | 2012 | 69 |
| 14 | Development and evaluation of a secondary reference panel for BCR-ABL1 quantification on the International Scale | Leukemia | 2016 | 51 |
| 15 | CRISPR-Cas9–mediated saturated mutagenesis screen predicts clinical drug resistance with improved accuracy | Proceedings of the National Academy of Sciences of the United States of America | 2017 | 50 |
| 16 | BCR-ABL1 doubling times more reliably assess the dynamics of CML relapse compared with the BCR-ABL1 fold rise: implications for monitoring and management | Blood | 2012 | 49 |
| 17 | DDX41-related myeloid neoplasia | Seminars in Hematology | 2017 | 49 |
| 18 | The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution | Leukemia | 2019 | 43 |
| 19 | Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemia | Nature Communications | 2021 | 39 |
| 20 | Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus | Med | 2021 | 33 |
| 21 | Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens | Hepatology | 2015 | 32 |
| 22 | RUNX1 mutations in blast-phase chronic myeloid leukemia associate with distinct phenotypes, transcriptional profiles, and drug responses | Leukemia | 2021 | 32 |
| 23 | Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer | Leukemia | 2021 | 32 |
| 24 | Many BCR-ABL1 compound mutations reported in chronic myeloid leukemia patients may actually be artifacts due to PCR-mediated recombination | Blood | 2014 | 31 |
| 25 | Integrating germline variant assessment into routine clinical practice for myelodysplastic syndrome and acute myeloid leukaemia: current strategies and challenges | British Journal of Haematology | 2022 | 31 |
| 26 | Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with HomozygousFGFR2Mutations Identified by Exome Sequencing | Human Mutation | 2016 | 30 |
| 27 | GATA2 deficiency syndrome: A decade of discovery | Human Mutation | 2021 | 30 |
| 28 | Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X) | European Journal of Human Genetics | 2010 | 29 |
| 29 | KIR2DL5B genotype predicts outcomes in CML patients treated with response-directed sequential imatinib/nilotinib strategy | Blood | 2015 | 27 |
| 30 | Aberrant RAG-mediated recombination contributes to multiple structural rearrangements in lymphoid blast crisis of chronic myeloid leukemia | Leukemia | 2020 | 27 |
| 31 | Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient | Haematologica | 2017 | 26 |
| 32 | Trans-generational exposure to low levels of rhodamine B does not adversely affect litter size or liver function in murine mucopolysaccharidosis type IIIA | Molecular Genetics and Metabolism | 2010 | 22 |
| 33 | Modeling the safe minimum frequency of molecular monitoring for CML patients attempting treatment-free remission | Blood | 2019 | 20 |
| 34 | Peroxisome proliferator‐activated receptor gamma‐coactivator‐1 alpha coordinates sphingolipid metabolism, lipid raft composition and myelin protein synthesis | European Journal of Neuroscience | 2013 | 19 |
| 35 | Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies | Blood Advances | 2023 | 19 |
| 36 | Paper or plastic? BCR-ABL1 quantitation and mutation detection from dried blood spots | Blood | 2016 | 17 |
| 37 | ASXL1 and BIM germ line variants predict response and identify CML patients with the greatest risk of imatinib failure | Blood Advances | 2017 | 17 |
| 38 | Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6 | Npj Genomic Medicine | 2019 | 16 |
| 39 | A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia | Haematologica | 2019 | 14 |
| 40 | Upfront Imatinib Therapy in CML Patients with Rapid Switching to Nilotinib for Failure to Achieve Molecular Targets or Intolerance Achieves High Overall Rates of Molecular Response and a Low Risk of Progression - An Update of the TIDEL-II Trial | Blood | 2011 | 14 |
| 41 | B-cell acute lymphoblastic leukemia in patients with germline RUNX1 mutations | Blood Advances | 2021 | 13 |
| 42 | Targeted pharmacotherapy after somatic cancer mutation screening | F1000Research | 2016 | 12 |
| 43 | Why is it critical to achieve a deep molecular response in chronic myeloid leukemia? | Haematologica | 2020 | 12 |
| 44 | Rhodamine B and 2-acetamido-1,3,6-tri-O-acetyl-4-deoxy-4-fluoro-d-glucopyranose (F-GlcNAc) inhibit chondroitin/dermatan and keratan sulphate synthesis by different mechanisms in bovine chondrocytes | Molecular Genetics and Metabolism | 2012 | 11 |
| 45 | The Hidden Pathogenesis of CML: Is BCR-ABL1 the First Event? | Current Hematologic Malignancy Reports | 2019 | 11 |
| 46 | Gene and protein expression profiles of JAK-STAT signalling pathway in the developing brain of the Ts1Cje down syndrome mouse model | International Journal of Neuroscience | 2019 | 11 |
| 47 | Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia | Leukemia | 2015 | 10 |
| 48 | GATA2 is a New Predisposition Gene for Familial Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML) | Blood | 2010 | 10 |
| 49 | Allan–Herndon–Dudley syndrome with unusual profound sensorineural hearing loss | American Journal of Medical Genetics, Part A | 2015 | 9 |
| 50 | Insights into pituitary tumorigenesis: from Sanger sequencing to next-generation sequencing and beyond | Expert Review of Endocrinology and Metabolism | 2019 | 8 |
