| # | Title | Journal | Year | Citations |
|---|
| 1 | Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease | Nature | 2012 | 4,038 |
| 2 | Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease | Nature Genetics | 2008 | 2,422 |
| 3 | GENCODE reference annotation for the human and mouse genomes | Nucleic Acids Research | 2019 | 2,350 |
| 4 | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci | Nature Genetics | 2010 | 2,284 |
| 5 | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 | Nature Genetics | 2011 | 1,201 |
| 6 | Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility | Nature Genetics | 2007 | 1,063 |
| 7 | Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease | Nature Genetics | 2017 | 943 |
| 8 | 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 |
| 9 | Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa | Nature Genetics | 2019 | 641 |
| 10 | Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene | Nature Genetics | 2010 | 638 |
| 11 | GENCODE 2021 | Nucleic Acids Research | 2021 | 633 |
| 12 | Meta-analysis and imputation refines the association of 15q25 with smoking quantity | Nature Genetics | 2010 | 581 |
| 13 | A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease | Journal of Experimental Medicine | 2008 | 559 |
| 14 | Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer | Nature Genetics | 2007 | 556 |
| 15 | New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey | Journal of Medical Genetics | 1999 | 534 |
| 16 | Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes | Nature Genetics | 2012 | 513 |
| 17 | Bayesian refinement of association signals for 14 loci in 3 common diseases | Nature Genetics | 2012 | 469 |
| 18 | Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease | Nature Genetics | 2008 | 403 |
| 19 | A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia | PLoS Genetics | 2009 | 383 |
| 20 | Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke | Nature Genetics | 2012 | 375 |
| 21 | Mutation of the RAD51C gene in a Fanconi anemia–like disorder | Nature Genetics | 2010 | 360 |
| 22 | Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma | Nature Genetics | 2010 | 357 |
| 23 | Genetics and Genomics of Pulmonary Arterial Hypertension | Journal of the American College of Cardiology | 2009 | 342 |
| 24 | A Nonsynonymous SNP in ATG16L1 Predisposes to Ileal Crohn’s Disease and Is Independent of CARD15 and IBD5 | Gastroenterology | 2007 | 268 |
| 25 | Widespread sex differences in gene expression and splicing in the adult human brain | Nature Communications | 2013 | 255 |
| 26 | Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis | Nature Communications | 2015 | 247 |
| 27 | Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study | Lancet Neurology, The | 2010 | 205 |
| 28 | 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 |
| 29 | Histone deacetylase inhibitors as therapeutics for polyglutamine disorders | Nature Reviews Neuroscience | 2006 | 194 |
| 30 | 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 |
| 31 | Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease | PLoS Genetics | 2010 | 174 |
| 32 | Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A | Brain | 2013 | 168 |
| 33 | Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus | Nature Genetics | 2012 | 162 |
| 34 | The molecular genetics of Huntington disease — a history | Nature Reviews Genetics | 2005 | 158 |
| 35 | Lentiviral vectors containing an enhancer-less ubiquitously acting chromatin opening element (UCOE) provide highly reproducible and stable transgene expression in hematopoietic cells | Blood | 2007 | 157 |
| 36 | Polyglutamine expansion of huntingtin impairs its nuclear export | Nature Genetics | 2005 | 153 |
| 37 | Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7 | Nature Genetics | 2017 | 153 |
| 38 | Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension | Human Mutation | 2011 | 152 |
| 39 | HTT-lowering reverses Huntington’s disease immune dysfunction caused by NFκB pathway dysregulation | Brain | 2014 | 147 |
| 40 | Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases and literature review | American Journal of Medical Genetics Part A | 1993 | 141 |
| 41 | Pharmacogenetic variants in the DPYD, TYMS, CDA and MTHFR genes are clinically significant predictors of fluoropyrimidine toxicity | British Journal of Cancer | 2013 | 139 |
| 42 | Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation | Human Molecular Genetics | 2009 | 136 |
| 43 | X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 | Nature Communications | 2017 | 133 |
| 44 | Regulation of alternative polyadenylation by genomic imprinting | Genes and Development | 2008 | 130 |
| 45 | No scientific consensus on GMO safety | Environmental Sciences Europe | 2015 | 119 |
| 46 | A Brain-Permeable Small Molecule Reduces Neuronal Cholesterol by Inhibiting Activity of Sirtuin 2 Deacetylase | ACS Chemical Biology | 2011 | 117 |
| 47 | A Ubiquitous Chromatin Opening Element (UCOE) Confers Resistance to DNA Methylation–mediated Silencing of Lentiviral Vectors | Molecular Therapy | 2010 | 116 |
| 48 | Increased metabolism in the R6/2 mouse model of Huntington’s disease | Neurobiology of Disease | 2008 | 114 |
| 49 | Quality Control for Genome-Wide Association Studies | Methods in Molecular Biology | 2010 | 106 |
| 50 | Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies | American Journal of Human Genetics | 2011 | 100 |
