| # | Title | Journal | Year | Citations |
|---|
| 1 | Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel | Blood | 2017 | 4,375 |
| 2 | Guidelines for the use and interpretation of assays for monitoring autophagy | Autophagy | 2012 | 3,122 |
| 3 | GENCODE reference annotation for the human and mouse genomes | Nucleic Acids Research | 2019 | 2,350 |
| 4 | A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1 | Nature Genetics | 2007 | 1,712 |
| 5 | Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes | Nature Genetics | 2018 | 1,124 |
| 6 | Huntington disease | Nature Reviews Disease Primers | 2015 | 1,031 |
| 7 | Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease | Nature Genetics | 2017 | 943 |
| 8 | Mapping long-range promoter contacts in human cells with high-resolution capture Hi-C | Nature Genetics | 2015 | 857 |
| 9 | Common genetic variants influence human subcortical brain structures | Nature | 2015 | 772 |
| 10 | Natural selection on EPAS1 ( HIF2α ) associated with low hemoglobin concentration in Tibetan highlanders | Proceedings of the National Academy of Sciences of the United States of America | 2010 | 708 |
| 11 | The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data | Brain Imaging and Behavior | 2014 | 696 |
| 12 | Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa | Nature Genetics | 2019 | 641 |
| 13 | GENCODE 2021 | Nucleic Acids Research | 2021 | 633 |
| 14 | Concerns over use of glyphosate-based herbicides and risks associated with exposures: a consensus statement | Environmental Health | 2016 | 610 |
| 15 | Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility | Nature Genetics | 2008 | 534 |
| 16 | Human MX2 is an interferon-induced post-entry inhibitor of HIV-1 infection | Nature | 2013 | 505 |
| 17 | Fine-mapping inflammatory bowel disease loci to single-variant resolution | Nature | 2017 | 473 |
| 18 | Arsenic trioxide and all-trans retinoic acid treatment for acute promyelocytic leukaemia in all risk groups (AML17): results of a randomised, controlled, phase 3 trial | Lancet Oncology, The | 2015 | 433 |
| 19 | Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome | Nature Genetics | 2013 | 427 |
| 20 | Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease | Proceedings of the National Academy of Sciences of the United States of America | 2013 | 415 |
| 21 | Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned | Molecular Psychiatry | 2012 | 405 |
| 22 | A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M | Nature Genetics | 2005 | 395 |
| 23 | A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia | PLoS Genetics | 2009 | 383 |
| 24 | The SUMO modification pathway is involved in the BRCA1 response to genotoxic stress | Nature | 2009 | 377 |
| 25 | Mutations in the Pericentrin ( PCNT ) Gene Cause Primordial Dwarfism | Science | 2008 | 370 |
| 26 | Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma | Nature Genetics | 2010 | 357 |
| 27 | IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome | Journal of Cell Biology | 2009 | 343 |
| 28 | Distinct evolution and dynamics of epigenetic and genetic heterogeneity in acute myeloid leukemia | Nature Medicine | 2016 | 322 |
| 29 | SIRT2 inhibition achieves neuroprotection by decreasing sterol biosynthesis | Proceedings of the National Academy of Sciences of the United States of America | 2010 | 304 |
| 30 | Widespread sex differences in gene expression and splicing in the adult human brain | Nature Communications | 2013 | 255 |
| 31 | Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with Systemic Lupus Erythematosus | PLoS Genetics | 2011 | 252 |
| 32 | Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants | Nature Communications | 2017 | 251 |
| 33 | Novel genetic loci associated with hippocampal volume | Nature Communications | 2017 | 250 |
| 34 | Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease | Nature Genetics | 2017 | 250 |
| 35 | Meta-analysis of 32 genome-wide linkage studies of schizophrenia | Molecular Psychiatry | 2009 | 235 |
| 36 | The IL23R R381Q Gene Variant Protects against Immune-Mediated Diseases by Impairing IL-23-Induced Th17 Effector Response in Humans | PLoS ONE | 2011 | 228 |
| 37 | BRCA1 RING Function Is Essential for Tumor Suppression but Dispensable for Therapy Resistance | Cancer Cell | 2011 | 228 |
| 38 | Meta-analysis of genome scans of age-related macular degeneration | Human Molecular Genetics | 2005 | 224 |
| 39 | Current approaches to gene regulatory network modelling | BMC Bioinformatics | 2007 | 218 |
| 40 | Novel genetic loci underlying human intracranial volume identified through genome-wide association | Nature Neuroscience | 2016 | 213 |
| 41 | The DNA sequence and biological annotation of human chromosome 1 | Nature | 2006 | 211 |
| 42 | The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder | European Journal of Human Genetics | 2013 | 201 |
| 43 | Low-dose imatinib mesylate leads to rapid induction of major molecular responses and achievement of complete molecular remission in FIP1L1-PDGFRA–positive chronic eosinophilic leukemia | Blood | 2007 | 195 |
| 44 | Tissue-Restricted Adaptive Type 2 Immunity Is Orchestrated by Expression of the Costimulatory Molecule OX40L on Group 2 Innate Lymphoid Cells | Immunity | 2018 | 191 |
| 45 | Identical oligomeric and fibrillar structures captured from the brains of R6/2 and knock-in mouse models of Huntington's disease | Human Molecular Genetics | 2010 | 185 |
| 46 | Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL) | Nature Genetics | 2010 | 177 |
| 47 | An Examination of Polygenic Score Risk Prediction in Individuals With First-Episode Psychosis | Biological Psychiatry | 2017 | 176 |
| 48 | Bone Morphogenetic Protein (BMP) and Activin Type II Receptors Balance BMP9 Signals Mediated by Activin Receptor-like Kinase-1 in Human Pulmonary Artery Endothelial Cells | Journal of Biological Chemistry | 2009 | 174 |
| 49 | Update on psoriasis immunopathogenesis and targeted immunotherapy | Seminars in Immunopathology | 2016 | 171 |
| 50 | Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A | Brain | 2013 | 168 |
