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Top Articles

#TitleJournalYearCitations
1Integrative analysis of 111 reference human epigenomesNature20155,653
2Systematic Localization of Common Disease-Associated Variation in Regulatory DNAScience20123,129
3Candidate gene for the chromosome 1 familial Alzheimer's disease locusScience19952,455
4The accessible chromatin landscape of the human genomeNature20122,434
5Positional Cloning of the Werner's Syndrome GeneScience19961,675
6The Simons Genome Diversity Project: 300 genomes from 142 diverse populationsNature20161,216
7Sequencing of 53,831 diverse genomes from the NHLBI TOPMed ProgramNature20211,069
8Mapping and sequencing of structural variation from eight human genomesNature2008983
9Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14Science1992904
10Topologically associating domains are stable units of replication-timing regulationNature2014779
11Subcapsular sinus macrophages in lymph nodes clear lymph-borne viruses and present them to antiviral B cellsNature2007765
12A Review of its Symptomatology, Natural History, Pathologic Features, Genetics And Relationship to the Natural Aging ProcessMedicine (United States)1966762
13CD46 is a cellular receptor for group B adenovirusesNature Medicine2003688
14Tsc tumour suppressor proteins antagonize amino-acid–TOR signallingNature Cell Biology2002627
15Persistent and therapeutic concentrations of human factor IX in mice after hepatic gene transfer of recombinant AAV vectorsNature Genetics1997589
16Inherited Mutations in Women With Ovarian CarcinomaJAMA Oncology2016576
17The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesAmerican Journal of Human Genetics2015574
18Haplotype phasing: existing methods and new developmentsNature Reviews Genetics2011537
19Improving the Accuracy and Efficiency of Identity-by-Descent Detection in Population DataGenetics2013536
20Detectable clonal mosaicism from birth to old age and its relationship to cancerNature Genetics2012511
21CTCF physically links cohesin to chromatinProceedings of the National Academy of Sciences of the United States of America2008449
22Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumAmerican Journal of Human Genetics2016432
23Association of in Utero Organophosphate Pesticide Exposure and Fetal Growth and Length of Gestation in an Agricultural PopulationEnvironmental Health Perspectives2004418
24Locus control regionsBlood2002400
25Using Whole-Exome Sequencing to Identify Inherited Causes of AutismNeuron2013383
26Adenovirus Binding to Blood Factors Results in Liver Cell Infection and HepatotoxicityJournal of Virology2005382
27ACMG 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 Medicine2021356
28Developmental regulation of human fetal-to-adult globin gene switching in transgenic miceNature1990354
29Efficient Gene Transfer into Human CD34+ Cells by a Retargeted Adenovirus VectorJournal of Virology2000351
30Control of globin gene expression during development and erythroid differentiationExperimental Hematology2005349
31Desmoglein 2 is a receptor for adenovirus serotypes 3, 7, 11 and 14Nature Medicine2011348
32Actionable, Pathogenic Incidental Findings in 1,000 Participants’ ExomesAmerican Journal of Human Genetics2013342
33Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In BetweenAmerican Journal of Human Genetics2014342
34Effects of 5′ Regulatory-Region Polymorphisms on Paraoxonase-Gene (PON1) ExpressionAmerican Journal of Human Genetics2001338
35Genetic Loci Associated with Plasma Phospholipid n-3 Fatty Acids: A Meta-Analysis of Genome-Wide Association Studies from the CHARGE ConsortiumPLoS Genetics2011324
36A Fast, Powerful Method for Detecting Identity by DescentAmerican Journal of Human Genetics2011321
37Microtechnique for Culturing Leukocytes from Whole BloodCytogenetic and Genome Research1963317
38Actionable exomic incidental findings in 6503 participants: challenges of variant classificationGenome Research2015313
39Prediction of DNA Repair Inhibitor Response in Short-Term Patient-Derived Ovarian Cancer OrganoidsCancer Discovery2018311
40Genome-scale mapping of DNase I sensitivity in vivo using tiling DNA microarraysNature Methods2006306
41Adenovirus serotype 5 hexon is critical for virus infection of hepatocytes in vivoProceedings of the National Academy of Sciences of the United States of America2008306
42Self-renewal of human embryonic stem cells requires insulin-like growth factor-1 receptor and ERBB2 receptor signalingBlood2007301
43Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancyNature Genetics2015299
44Long–term hepatic adenovirus–mediated gene expression in mice following CTLA4Ig administrationNature Genetics1995298
45Paraoxonase (PON1) Phenotype Is a Better Predictor of Vascular Disease Than Is PON1 192 or PON1 55 GenotypeArteriosclerosis, Thrombosis, and Vascular Biology2000294
46The Number of Trait Loci in Late-Onset Alzheimer DiseaseAmerican Journal of Human Genetics2000286
47A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasisNature Genetics2003284
48Recommendations for returning genomic incidental findings? We need to talk!Genetics in Medicine2013272
49Analysis of Human Sequence Data Reveals Two Pulses of Archaic Denisovan AdmixtureCell2018271
50PTEN methylation is associated with advanced stage and microsatellite instability in endometrial carcinomaInternational Journal of Cancer2001270