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Author: Hakon Hakonarson

  • ORCiD: http://orcid.org/0000-0003-2814-7461
  • Most recently observed institution: Center for Applied Genomics, The Children?s Hospit.al of Philadelphia, Philadelphia, PA, USA; Division of Human Genetics, Department of Pediatrics, The Children?s Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School o

Rankings

  • All-time downloads: 47,158 (rank: 4,228 )
  • Categories:
    • allergy and immunology: 1,121 (rank: 1,350 )
    • bioinformatics: 5,404 (rank: 2,657 )
    • cardiovascular medicine: 314 (rank: 2,568 (tie) )
    • gastroenterology: 203 (rank: 2,238 (tie) )
    • genetic and genomic medicine: 7,180 (rank: 182 )
    • genetics: 26,641 (rank: 294 )
    • genomics: 3,490 (rank: 7,979 (tie) )
    • immunology: 519 (rank: 23,558 (tie) )
    • infectious diseases: 450 (rank: 42,903 (tie) )
    • intensive care and critical care medicine: 379 (rank: 2,593 (tie) )
    • molecular biology: 340 (rank: 22,969 (tie) )
    • pathology: 367 (rank: 5,109 (tie) )
    • psychiatry and clinical psychology: 238 (rank: 5,910 (tie) )
    • rheumatology: 512 (rank: 750 (tie) )

Downloads per author, site-wide

Preprints

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

genetics more details view paper
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Phenome-wide association studies (PheWAS) across large "real-world data" population cohorts support drug target validation

genetics more details view paper
  • Downloaded 3,654 times
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    • Site-wide: 4,129
    • In genetics: 140
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    • Site-wide: 55,391
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Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data.

bioinformatics more details view paper
  • Downloaded 3,145 times
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    • Site-wide: 5,117
    • In bioinformatics: 482
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    • Site-wide: 96,954

A cross-disorder dosage sensitivity map of the human genome

genetic and genomic medicine more details view paper
  • Downloaded 2,606 times
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    • In genetic and genomic medicine: 30
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    • Site-wide: 1,382
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Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

genetics more details view paper
  • Downloaded 2,109 times
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    • Site-wide: 9,172
    • In genetics: 381
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Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

genetics more details view paper
  • Downloaded 1,466 times
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    • Site-wide: 15,983
    • In genetics: 704
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LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data

bioinformatics more details view paper
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    • In bioinformatics: 2,156
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Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics

genetics more details view paper
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Pathologic gene network rewiring implicates PPP1R3A as a central cardioprotective factor in pressure overload heart failure

genomics more details view paper
  • Downloaded 1,111 times
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Whole Genome Sequencing of Pharmacogenetic Drug Response in Racially and Ethnically Diverse Children with Asthma

genetics more details view paper
  • Downloaded 1,086 times
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    • Site-wide: 25,179
    • In genetics: 1,106
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Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

genetics more details view paper
  • Downloaded 911 times
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    • Site-wide: 32,705
    • In genetics: 1,429
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    • Site-wide: 108,843
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    • Site-wide: 108,147

Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies

genetics more details view paper
  • Downloaded 865 times
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    • Site-wide: 35,177
    • In genetics: 1,543
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    • Site-wide: 31,868
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Dissecting the shared genetic architecture of suicide attempt, psychiatric disorders and known risk factors

genetic and genomic medicine more details view paper
  • Downloaded 820 times
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    • Site-wide: 38,112
    • In genetic and genomic medicine: 179
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Low frequency and rare coding variation contributes to multiple sclerosis risk

genetics more details view paper
  • Downloaded 804 times
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    • Site-wide: 39,191
    • In genetics: 1,698
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Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23

genomics more details view paper
  • Downloaded 714 times
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    • Site-wide: 46,411
    • In genomics: 3,582
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Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity

genomics more details view paper
  • Downloaded 699 times
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    • In genomics: 3,668
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Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual through variant-to-gene mapping

genetic and genomic medicine more details view paper
  • Downloaded 671 times
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    • Site-wide: 50,447
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Novel KITLG regulatory variants are associated with lung function in African American children with asthma

allergy and immunology more details view paper
  • Downloaded 627 times
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Genetic correlations between COVID-19 and a variety of diseases and other medically relevant traits

genetic and genomic medicine more details view paper
  • Downloaded 620 times
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    • Site-wide: 56,155
    • In genetic and genomic medicine: 264
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Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

genetics more details view paper
  • Downloaded 614 times
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    • Site-wide: 56,927
    • In genetics: 2,412
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Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration

genetics more details view paper
  • Downloaded 580 times
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    • Site-wide: 61,089
    • In genetics: 2,603
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Atlas-CNV: a validated approach to call Single-Exon CNVs in the eMERGESeq gene panel

genomics more details view paper
  • Downloaded 560 times
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    • In genomics: 4,530
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    • Site-wide: 146,699
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Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits - the Hispanic/Latino Anthropometry Consortium

genetics more details view paper
  • Downloaded 525 times
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    • Site-wide: 68,880
    • In genetics: 2,930
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    • Site-wide: 14,667
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    • Site-wide: 5,418

CSF-1 maintains pathogenic but not homeostatic myeloid cells in the central nervous system during autoimmune neuroinflammation.

immunology more details view paper
  • Downloaded 519 times
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    • Site-wide: 69,995
    • In immunology: 2,140
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Genomic risk scores for juvenile idiopathic arthritis and its subtypes

rheumatology more details view paper
  • Downloaded 512 times
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    • Site-wide: 70,966
    • In rheumatology: 59
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Clinical and Functional Characterization of Melanocortin 4 Receptor genetic variants in African American and/or Hispanic children with severe early onset obesity.

genetics more details view paper
  • Downloaded 494 times
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    • Site-wide: 73,997
    • In genetics: 3,134
  • Year to date:
    • Site-wide: 137,936
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Integrative Genetics Analysis of Juvenile Idiopathic Arthritis Identifies Novel Loci

allergy and immunology more details view paper
  • Downloaded 494 times
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    • In allergy and immunology: 148
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A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies

bioinformatics more details view paper
  • Downloaded 485 times
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    • Site-wide: 75,564
    • In bioinformatics: 6,959
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    • Site-wide: 127,471
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Epistasis Detection using Model-Based Multifactor Dimensionality Reduction in Structured Populations

bioinformatics more details view paper
  • Downloaded 470 times
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    • Site-wide: 78,226
    • In bioinformatics: 7,131
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The Infection Rate of the Coronavirus Disease 2019 (COVID-19) in Wuhan, China

infectious diseases more details view paper
  • Downloaded 450 times
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    • Site-wide: 81,962
    • In infectious diseases: 4,192
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Machine Learning for Interpretation of DNA Variants of Maturity-Onset Diabetes of the Young Genes Based on ACMG Criteria

genetic and genomic medicine more details view paper
  • Downloaded 431 times
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    • Site-wide: 85,613
    • In genetic and genomic medicine: 421
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Genetic association of primary non-response to Anti-TNFα therapy in patients with Inflammatory Bowel Disease

genetic and genomic medicine more details view paper
  • Downloaded 420 times
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    • Site-wide: 87,929
    • In genetic and genomic medicine: 440
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Genomic Considerations for FHIR; eMERGE Implementation Lessons

genomics more details view paper
  • Downloaded 406 times
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    • Site-wide: 90,909
    • In genomics: 5,731
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    • Site-wide: 21,840
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Elevation of Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries

intensive care and critical care medicine more details view paper
  • Downloaded 379 times
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    • Site-wide: 96,873
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    • Site-wide: 20,175

Neuroinflammation and EIF2 signaling persist in an HiPSC tri-culture model of HIV infection despite antiretroviral treatment

pathology more details view paper
  • Downloaded 367 times
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    • Site-wide: 99,651
    • In pathology: 522
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    • Site-wide: 141,785
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A genome-wide association study of polycystic ovary syndrome identified from electronic health records

genetic and genomic medicine more details view paper
  • Downloaded 348 times
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    • Site-wide: 104,224
    • In genetic and genomic medicine: 563
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RUNX1 haploinsufficiency causes a marked deficiency of megakaryocyte-biased hematopoietic progenitor cells: Mechanistic studies and drug correction

molecular biology more details view paper
  • Downloaded 340 times
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FLNC and MYLK2 gene mutations in a Chinese family with different phenotypes of cardiomyopathy

cardiovascular medicine more details view paper
  • Downloaded 314 times
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Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study

genetic and genomic medicine more details view paper
  • Downloaded 309 times
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Genetics of Low Polygenic Risk Score Type 1 Diabetes Patients: rare variants in 22 novel loci

genetic and genomic medicine more details view paper
  • Downloaded 308 times
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    • Site-wide: 114,170
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Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

genetic and genomic medicine more details view paper
  • Downloaded 306 times
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Risk of preeclampsia in patients with genetic predisposition to common medical conditions: a case-control study

genetics more details view paper
  • Downloaded 272 times
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A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes

genetic and genomic medicine more details view paper
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Machine learning reduced gene/non-coding RNA features that classify Schizophrenia patients accurately and highlight insightful gene clusters

psychiatry and clinical psychology more details view paper
  • Downloaded 238 times
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Elevated levels of the cytokine LIGHT in Crohn's disease

gastroenterology more details view paper
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A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

genetic and genomic medicine more details view paper
  • Downloaded 91 times
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