| # | Title | Journal | Year | Citations |
|---|
| 1 | Identification of the cystic fibrosis gene: genetic analysis | Science | 1989 | 3,921 |
| 2 | Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease | Nature Genetics | 2013 | 3,741 |
| 3 | A Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene | Science | 2006 | 2,739 |
| 4 | Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease | Nature Genetics | 2008 | 2,422 |
| 5 | PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis | American Journal of Human Genetics | 1998 | 1,923 |
| 6 | Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease | Nature Genetics | 2011 | 1,676 |
| 7 | Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis | Nature Genetics | 2007 | 1,633 |
| 8 | Cleft lip and palate: understanding genetic and environmental influences | Nature Reviews Genetics | 2011 | 1,435 |
| 9 | Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture | Nature Genetics | 2012 | 1,100 |
| 10 | Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program | Nature | 2021 | 1,069 |
| 11 | Gene expression elucidates functional impact of polygenic risk for schizophrenia | Nature Neuroscience | 2016 | 952 |
| 12 | Genome partitioning of genetic variation for complex traits using common SNPs | Nature Genetics | 2011 | 834 |
| 13 | Deficiency of Subsarcolemmal Mitochondria in Obesity and Type 2 Diabetes | Diabetes | 2005 | 755 |
| 14 | Estimating African American Admixture Proportions by Use of Population-Specific Alleles | American Journal of Human Genetics | 1998 | 718 |
| 15 | The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm | Nature Genetics | 2008 | 668 |
| 16 | Accelerated Loss of Skeletal Muscle Strength in Older Adults With Type 2 Diabetes: The Health, Aging, and Body Composition Study | Diabetes Care | 2007 | 598 |
| 17 | Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema | Nature Genetics | 2000 | 593 |
| 18 | A catalog of genetic loci associated with kidney function from analyses of a million individuals | Nature Genetics | 2019 | 549 |
| 19 | Defective valves and abnormal mural cell recruitment underlie lymphatic vascular failure in lymphedema distichiasis | Nature Medicine | 2004 | 515 |
| 20 | Susceptibility Genes for Age-Related Maculopathy on Chromosome 10q26 | American Journal of Human Genetics | 2005 | 515 |
| 21 | The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set–recoding and fuzzy inheritance | Nature Genetics | 1995 | 514 |
| 22 | Detectable clonal mosaicism from birth to old age and its relationship to cancer | Nature Genetics | 2012 | 511 |
| 23 | Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map | Nature Genetics | 1994 | 440 |
| 24 | Microsatellite DNA Variation and the Evolution, Domestication and Phylogeography of Taurine and Zebu Cattle (Bos taurus and Bos indicus) | Genetics | 1997 | 430 |
| 25 | Determinant-Based Classification of Acute Pancreatitis Severity | Annals of Surgery | 2012 | 425 |
| 26 | Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease | Nature | 2014 | 425 |
| 27 | CHRONIC TRAUMATIC ENCEPHALOPATHY IN A NATIONAL FOOTBALL LEAGUE PLAYER | Neurosurgery | 2006 | 414 |
| 28 | Spindle Multipolarity Is Prevented by Centrosomal Clustering | Science | 2005 | 394 |
| 29 | Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan | Gastroenterology | 2003 | 382 |
| 30 | A maximum likelihood method for estimating genome length using genetic linkage data. | Genetics | 1991 | 382 |
| 31 | A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD | Nature Genetics | 1998 | 371 |
| 32 | Genetic variation in components of dopamine neurotransmission impacts ventral striatal reactivity associated with impulsivity | Molecular Psychiatry | 2009 | 371 |
| 33 | Neurofibromatosis 1 (Recklinghausen Disease) and Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) | Annals of Internal Medicine | 1990 | 366 |
| 34 | Ulcerative colitis–risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study | Nature Genetics | 2009 | 364 |
| 35 | A genetic study of Hirschsprung disease | American Journal of Human Genetics | 1990 | 333 |
| 36 | The Epidemiology and Risk Factors of Head and Neck Cancer: a Focus on Human Papillomavirus | Journal of Dental Research | 2007 | 329 |
| 37 | Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias | PLoS Genetics | 2014 | 305 |
| 38 | Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis | Nature Genetics | 2012 | 303 |
| 39 | Distribution of the four founding lineage haplotypes in native Americans suggests a single wave of migration for the New World | American Journal of Physical Anthropology | 1995 | 271 |
| 40 | Ethnic-affiliation estimation by use of population-specific DNA markers | American Journal of Human Genetics | 1997 | 267 |
| 41 | Genetic Diversity and Association Studies in US Hispanic/Latino Populations: Applications in the Hispanic Community Health Study/Study of Latinos | American Journal of Human Genetics | 2016 | 266 |
| 42 | A Quantitative-Trait Locus on Chromosome 6p Influences Different Aspects of Developmental Dyslexia | American Journal of Human Genetics | 1999 | 260 |
| 43 | Evaluation and comparison of gene clustering methods in microarray analysis | Bioinformatics | 2006 | 256 |
| 44 | Genetic Risk Factors for Pancreatic Disorders | Gastroenterology | 2013 | 250 |
| 45 | Multilocus Genetic Profile for Dopamine Signaling Predicts Ventral Striatum Reactivity | Neuropsychopharmacology | 2011 | 249 |
| 46 | Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study | Nature Communications | 2020 | 246 |
| 47 | A novel measure of genetic distance for highly polymorphic tandem repeat loci. | Molecular Biology and Evolution | 1995 | 242 |
| 48 | Peripheral Blood Mononuclear Cell Gene Expression Profiles Predict Poor Outcome in Idiopathic Pulmonary Fibrosis | Science Translational Medicine | 2013 | 242 |
| 49 | Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22 | Human Molecular Genetics | 1994 | 241 |
| 50 | Population Structure in Admixed Populations: Effect of Admixture Dynamics on the Pattern of Linkage Disequilibrium | American Journal of Human Genetics | 2001 | 240 |
