# | Title | Journal | Year | Citations |
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1 | Integrative analysis of 111 reference human epigenomes | Nature | 2015 | 5,653 |
2 | Systematic Localization of Common Disease-Associated Variation in Regulatory DNA | Science | 2012 | 3,129 |
3 | Candidate gene for the chromosome 1 familial Alzheimer's disease locus | Science | 1995 | 2,455 |
4 | The accessible chromatin landscape of the human genome | Nature | 2012 | 2,434 |
5 | Positional Cloning of the Werner's Syndrome Gene | Science | 1996 | 1,675 |
6 | The Simons Genome Diversity Project: 300 genomes from 142 diverse populations | Nature | 2016 | 1,216 |
7 | Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program | Nature | 2021 | 1,069 |
8 | Mapping and sequencing of structural variation from eight human genomes | Nature | 2008 | 983 |
9 | Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14 | Science | 1992 | 904 |
10 | Topologically associating domains are stable units of replication-timing regulation | Nature | 2014 | 779 |
11 | Subcapsular sinus macrophages in lymph nodes clear lymph-borne viruses and present them to antiviral B cells | Nature | 2007 | 765 |
12 | A Review of its Symptomatology, Natural History, Pathologic Features, Genetics And Relationship to the Natural Aging Process | Medicine (United States) | 1966 | 762 |
13 | CD46 is a cellular receptor for group B adenoviruses | Nature Medicine | 2003 | 688 |
14 | Tsc tumour suppressor proteins antagonize amino-acid–TOR signalling | Nature Cell Biology | 2002 | 627 |
15 | Persistent and therapeutic concentrations of human factor IX in mice after hepatic gene transfer of recombinant AAV vectors | Nature Genetics | 1997 | 589 |
16 | Inherited Mutations in Women With Ovarian Carcinoma | JAMA Oncology | 2016 | 576 |
17 | The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities | American Journal of Human Genetics | 2015 | 574 |
18 | Haplotype phasing: existing methods and new developments | Nature Reviews Genetics | 2011 | 537 |
19 | Improving the Accuracy and Efficiency of Identity-by-Descent Detection in Population Data | Genetics | 2013 | 536 |
20 | Detectable clonal mosaicism from birth to old age and its relationship to cancer | Nature Genetics | 2012 | 511 |
21 | CTCF physically links cohesin to chromatin | Proceedings of the National Academy of Sciences of the United States of America | 2008 | 449 |
22 | Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium | American Journal of Human Genetics | 2016 | 432 |
23 | Association of in Utero Organophosphate Pesticide Exposure and Fetal Growth and Length of Gestation in an Agricultural Population | Environmental Health Perspectives | 2004 | 418 |
24 | Locus control regions | Blood | 2002 | 400 |
25 | Using Whole-Exome Sequencing to Identify Inherited Causes of Autism | Neuron | 2013 | 383 |
26 | Adenovirus Binding to Blood Factors Results in Liver Cell Infection and Hepatotoxicity | Journal of Virology | 2005 | 382 |
27 | ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) | Genetics in Medicine | 2021 | 356 |
28 | Developmental regulation of human fetal-to-adult globin gene switching in transgenic mice | Nature | 1990 | 354 |
29 | Efficient Gene Transfer into Human CD34+ Cells by a Retargeted Adenovirus Vector | Journal of Virology | 2000 | 351 |
30 | Control of globin gene expression during development and erythroid differentiation | Experimental Hematology | 2005 | 349 |
31 | Desmoglein 2 is a receptor for adenovirus serotypes 3, 7, 11 and 14 | Nature Medicine | 2011 | 348 |
32 | Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes | American Journal of Human Genetics | 2013 | 342 |
33 | Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between | American Journal of Human Genetics | 2014 | 342 |
34 | Effects of 5′ Regulatory-Region Polymorphisms on Paraoxonase-Gene (PON1) Expression | American Journal of Human Genetics | 2001 | 338 |
35 | Genetic Loci Associated with Plasma Phospholipid n-3 Fatty Acids: A Meta-Analysis of Genome-Wide Association Studies from the CHARGE Consortium | PLoS Genetics | 2011 | 324 |
36 | A Fast, Powerful Method for Detecting Identity by Descent | American Journal of Human Genetics | 2011 | 321 |
37 | Microtechnique for Culturing Leukocytes from Whole Blood | Cytogenetic and Genome Research | 1963 | 317 |
38 | Actionable exomic incidental findings in 6503 participants: challenges of variant classification | Genome Research | 2015 | 313 |
39 | Prediction of DNA Repair Inhibitor Response in Short-Term Patient-Derived Ovarian Cancer Organoids | Cancer Discovery | 2018 | 311 |
40 | Genome-scale mapping of DNase I sensitivity in vivo using tiling DNA microarrays | Nature Methods | 2006 | 306 |
41 | Adenovirus serotype 5 hexon is critical for virus infection of hepatocytes in vivo | Proceedings of the National Academy of Sciences of the United States of America | 2008 | 306 |
42 | Self-renewal of human embryonic stem cells requires insulin-like growth factor-1 receptor and ERBB2 receptor signaling | Blood | 2007 | 301 |
43 | Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy | Nature Genetics | 2015 | 299 |
44 | Long–term hepatic adenovirus–mediated gene expression in mice following CTLA4Ig administration | Nature Genetics | 1995 | 298 |
45 | Paraoxonase (PON1) Phenotype Is a Better Predictor of Vascular Disease Than Is PON1 192 or PON1 55 Genotype | Arteriosclerosis, Thrombosis, and Vascular Biology | 2000 | 294 |
46 | The Number of Trait Loci in Late-Onset Alzheimer Disease | American Journal of Human Genetics | 2000 | 286 |
47 | A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis | Nature Genetics | 2003 | 284 |
48 | Recommendations for returning genomic incidental findings? We need to talk! | Genetics in Medicine | 2013 | 272 |
49 | Analysis of Human Sequence Data Reveals Two Pulses of Archaic Denisovan Admixture | Cell | 2018 | 271 |
50 | PTEN methylation is associated with advanced stage and microsatellite instability in endometrial carcinoma | International Journal of Cancer | 2001 | 270 |