Rxivist logo

Author: Hakon Hakonarson

  • ORCiD: http://orcid.org/0000-0003-2814-7461
  • Most recently observed institution: Center for Applied Genomics, Division of Human Genetics, The Childrenis Hospital of Philadelphia Philadelphia, PA USA

Rankings

  • All-time downloads: 41,647 (rank: 3,858 )
  • Categories:
    • allergy and immunology: 902 (rank: 1,073 )
    • bioinformatics: 5,147 (rank: 2,427 (tie) )
    • cardiovascular medicine: 217 (rank: 2,350 (tie) )
    • genetic and genomic medicine: 5,308 (rank: 155 )
    • genetics: 25,099 (rank: 291 )
    • genomics: 3,049 (rank: 8,205 (tie) )
    • immunology: 266 (rank: 27,718 (tie) )
    • infectious diseases: 371 (rank: 36,136 (tie) )
    • intensive care and critical care medicine: 61 (rank: 3,152 (tie) )
    • molecular biology: 234 (rank: 22,567 (tie) )
    • pathology: 329 (rank: 4,246 (tie) )
    • psychiatry and clinical psychology: 201 (rank: 4,522 (tie) )
    • rheumatology: 463 (rank: 600 (tie) )

Downloads per author, site-wide

Preprints

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

genetics more details view paper
  • Downloaded 11,484 times
  • Download rankings, all-time:
    • Site-wide: 738
    • In genetics: 18
  • Year to date:
    • Site-wide: 3,367
  • Since beginning of last month:
    • Site-wide: 4,817

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

genetics more details view paper
  • Downloaded 3,558 times
  • Download rankings, all-time:
    • Site-wide: 3,570
    • In genetics: 129
  • Year to date:
    • Site-wide: 42,163
  • Since beginning of last month:
    • Site-wide: 39,972

Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data.

bioinformatics more details view paper
  • Downloaded 3,031 times
  • Download rankings, all-time:
    • Site-wide: 4,460
    • In bioinformatics: 443
  • Year to date:
    • Site-wide: 31,885
  • Since beginning of last month:
    • Site-wide: 55,192

A cross-disorder dosage sensitivity map of the human genome

genetic and genomic medicine more details view paper
  • Downloaded 2,062 times
  • Download rankings, all-time:
    • Site-wide: 7,826
    • In genetic and genomic medicine: 31
  • Year to date:
    • Site-wide: 860
  • Since beginning of last month:
    • Site-wide: 3,398

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

genetics more details view paper
  • Downloaded 2,052 times
  • Download rankings, all-time:
    • Site-wide: 7,874
    • In genetics: 353
  • Year to date:
    • Site-wide: 53,143
  • Since beginning of last month:
    • Site-wide: 69,779

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

genetics more details view paper
  • Downloaded 1,434 times
  • Download rankings, all-time:
    • Site-wide: 13,442
    • In genetics: 630
  • Year to date:
    • Site-wide: 89,126
  • Since beginning of last month:
    • Site-wide: 115,393

LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data

bioinformatics more details view paper
  • Downloaded 1,262 times
  • Download rankings, all-time:
    • Site-wide: 16,271
    • In bioinformatics: 1,917
  • Year to date:
    • Site-wide: 89,306
  • Since beginning of last month:
    • Site-wide: 96,852

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
  • Downloaded 1,217 times
  • Download rankings, all-time:
    • Site-wide: 17,183
    • In genetics: 818
  • Year to date:
    • Site-wide: 91,170
  • Since beginning of last month:
    • Site-wide: 89,127

Pathologic gene network rewiring implicates PPP1R3A as a central cardioprotective factor in pressure overload heart failure

genomics more details view paper
  • Downloaded 1,065 times
  • Download rankings, all-time:
    • Site-wide: 20,909
    • In genomics: 2,048
  • Year to date:
    • Site-wide: 88,797
  • Since beginning of last month:
    • Site-wide: 64,051

Whole Genome Sequencing of Pharmacogenetic Drug Response in Racially and Ethnically Diverse Children with Asthma

genetics more details view paper
  • Downloaded 1,027 times
  • Download rankings, all-time:
    • Site-wide: 22,039
    • In genetics: 1,032
  • Year to date:
    • Site-wide: 99,807
  • Since beginning of last month:
    • Site-wide: 99,286

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

genetics more details view paper
  • Downloaded 850 times
  • Download rankings, all-time:
    • Site-wide: 28,939
    • In genetics: 1,364
  • Year to date:
    • Site-wide: 89,920
  • Since beginning of last month:
    • Site-wide: 115,517

Low frequency and rare coding variation contributes to multiple sclerosis risk

genetics more details view paper
  • Downloaded 780 times
  • Download rankings, all-time:
    • Site-wide: 32,585
    • In genetics: 1,530
  • Year to date:
    • Site-wide: 132,605
  • Since beginning of last month:
    • Site-wide: 132,905

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

genetics more details view paper
  • Downloaded 763 times
  • Download rankings, all-time:
    • Site-wide: 33,619
    • In genetics: 1,569
  • Year to date:
    • Site-wide: 19,801
  • Since beginning of last month:
    • Site-wide: 88,906

Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity

genomics more details view paper
  • Downloaded 640 times
  • Download rankings, all-time:
    • Site-wide: 42,550
    • In genomics: 3,469
  • Year to date:
    • Site-wide: 110,095
  • Since beginning of last month:
    • Site-wide: 95,554

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

genetics more details view paper
  • Downloaded 594 times
  • Download rankings, all-time:
    • Site-wide: 46,682
    • In genetics: 2,131
  • Year to date:
    • Site-wide: 78,980
  • Since beginning of last month:
    • Site-wide: 107,495

Dissecting the shared genetic architecture of suicide attempt, psychiatric disorders and known risk factors

genetic and genomic medicine more details view paper
  • Downloaded 594 times
  • Download rankings, all-time:
    • Site-wide: 46,756
    • In genetic and genomic medicine: 172
  • Year to date:
    • Site-wide: 13,119
  • Since beginning of last month:
    • Site-wide: 15,896

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 578 times
  • Download rankings, all-time:
    • Site-wide: 48,353
    • In genomics: 3,787
  • Year to date:
    • Site-wide: 26,744
  • Since beginning of last month:
    • Site-wide: 35,914

Novel KITLG regulatory variants are associated with lung function in African American children with asthma

allergy and immunology more details view paper
  • Downloaded 530 times
  • Download rankings, all-time:
    • Site-wide: 53,624
    • In allergy and immunology: 87
  • Year to date:
    • Site-wide: 61,855
  • Since beginning of last month:
    • Site-wide: 62,373

Atlas-CNV: a validated approach to call Single-Exon CNVs in the eMERGESeq gene panel

genomics more details view paper
  • Downloaded 530 times
  • Download rankings, all-time:
    • Site-wide: 53,547
    • In genomics: 4,108
  • Year to date:
    • Site-wide: 110,020
  • Since beginning of last month:
    • Site-wide: 108,963

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration

genetics more details view paper
  • Downloaded 519 times
  • Download rankings, all-time:
    • Site-wide: 54,929
    • In genetics: 2,483
  • Year to date:
    • Site-wide: 129,192
  • Since beginning of last month:
    • Site-wide: 138,803

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 508 times
  • Download rankings, all-time:
    • Site-wide: 56,317
    • In genetic and genomic medicine: 213
  • Year to date:
    • Site-wide: 73,155
  • Since beginning of last month:
    • Site-wide: 62,240

Genomic risk scores for juvenile idiopathic arthritis and its subtypes

rheumatology more details view paper
  • Downloaded 463 times
  • Download rankings, all-time:
    • Site-wide: 62,371
    • In rheumatology: 42
  • Year to date:
    • Site-wide: 100,458
  • Since beginning of last month:
    • Site-wide: 86,050

Genetic correlations between COVID-19 and a variety of diseases and other medically relevant traits

genetic and genomic medicine more details view paper
  • Downloaded 450 times
  • Download rankings, all-time:
    • Site-wide: 64,390
    • In genetic and genomic medicine: 245
  • Year to date:
    • Site-wide: 24,223
  • Since beginning of last month:
    • Site-wide: 22,487

A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies

bioinformatics more details view paper
  • Downloaded 447 times
  • Download rankings, all-time:
    • Site-wide: 64,752
    • In bioinformatics: 6,301
  • Year to date:
    • Site-wide: 88,881
  • Since beginning of last month:
    • Site-wide: 136,522

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 444 times
  • Download rankings, all-time:
    • Site-wide: 65,174
    • In genetics: 2,945
  • Year to date:
    • Site-wide: 126,968
  • Since beginning of last month:
    • Site-wide: 118,139

Epistasis Detection using Model-Based Multifactor Dimensionality Reduction in Structured Populations

bioinformatics more details view paper
  • Downloaded 407 times
  • Download rankings, all-time:
    • Site-wide: 71,239
    • In bioinformatics: 6,732
  • Year to date:
    • Site-wide: 93,677
  • Since beginning of last month:
    • Site-wide: 141,796

Integrative Genetics Analysis of Juvenile Idiopathic Arthritis Identifies Novel Loci

allergy and immunology more details view paper
  • Downloaded 372 times
  • Download rankings, all-time:
    • Site-wide: 77,515
    • In allergy and immunology: 113
  • Year to date:
    • Site-wide: 52,012
  • Since beginning of last month:
    • Site-wide: 34,832

The Infection Rate of the Coronavirus Disease 2019 (COVID-19) in Wuhan, China

infectious diseases more details view paper
  • Downloaded 371 times
  • Download rankings, all-time:
    • Site-wide: 77,675
    • In infectious diseases: 3,549
  • Year to date:
    • Site-wide: 111,574
  • Since beginning of last month:
    • Site-wide: 93,662

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 342 times
  • Download rankings, all-time:
    • Site-wide: 83,250
    • In genetic and genomic medicine: 337
  • Year to date:
    • Site-wide: 45,923
  • Since beginning of last month:
    • Site-wide: 41,637

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

pathology more details view paper
  • Downloaded 329 times
  • Download rankings, all-time:
    • Site-wide: 85,887
    • In pathology: 431
  • Year to date:
    • Site-wide: 114,090
  • Since beginning of last month:
    • Site-wide: 86,852

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 308 times
  • Download rankings, all-time:
    • Site-wide: 90,358
    • In genetic and genomic medicine: 375
  • Year to date:
    • Site-wide: 56,160
  • Since beginning of last month:
    • Site-wide: 62,298

A genome-wide association study of polycystic ovary syndrome identified from electronic health records

genetic and genomic medicine more details view paper
  • Downloaded 305 times
  • Download rankings, all-time:
    • Site-wide: 90,974
    • In genetic and genomic medicine: 378
  • Year to date:
    • Site-wide: 116,702
  • Since beginning of last month:
    • Site-wide: 88,637

Targeting CSF-1 ameliorates experimental autoimmune encephalomyelitis by depleting inflammatory monocytes and microglia in the central nervous system without affecting quiescent microglia.

immunology more details view paper
  • Downloaded 266 times
  • Download rankings, all-time:
    • Site-wide: 99,790
    • In immunology: 2,904
  • Year to date:
    • Site-wide: 60,912
  • Since beginning of last month:
    • Site-wide: 47,438

Genomic Considerations for FHIR; eMERGE Implementation Lessons

genomics more details view paper
  • Downloaded 236 times
  • Download rankings, all-time:
    • Site-wide: 106,616
    • In genomics: 6,221
  • Year to date:
    • Site-wide: 17,251
  • Since beginning of last month:
    • Site-wide: 15,295

RUNX1 haploinsufficiency causes a marked deficiency of megakaryocyte-biased hematopoietic progenitor cells: Mechanistic studies and drug correction

molecular biology more details view paper
  • Downloaded 234 times
  • Download rankings, all-time:
    • Site-wide: 107,164
    • In molecular biology: 3,173
  • Year to date:
    • Site-wide: 35,261
  • Since beginning of last month:
    • Site-wide: 37,914

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

genetic and genomic medicine more details view paper
  • Downloaded 233 times
  • Download rankings, all-time:
    • Site-wide: 107,333
    • In genetic and genomic medicine: 505
  • Year to date:
    • Site-wide: 38,273
  • Since beginning of last month:
    • Site-wide: 60,359

FLNC and MYLK2 gene mutations in a Chinese family with different phenotypes of cardiomyopathy

cardiovascular medicine more details view paper
  • Downloaded 217 times
  • Download rankings, all-time:
    • Site-wide: 111,228
    • In cardiovascular medicine: 246
  • Year to date:
    • Site-wide: 100,856
  • Since beginning of last month:
    • Site-wide: 88,773

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 206 times
  • Download rankings, all-time:
    • Site-wide: 113,751
    • In genetic and genomic medicine: 559
  • Year to date:
    • Site-wide: 65,583
  • Since beginning of last month:
    • Site-wide: 35,346

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 201 times
  • Download rankings, all-time:
    • Site-wide: 115,053
    • In psychiatry and clinical psychology: 507
  • Year to date:
    • Site-wide: 86,350
  • Since beginning of last month:
    • Site-wide: 62,482

Risk of preeclampsia in patients with genetic predisposition to common medical conditions: a case-control study

genetics more details view paper
  • Downloaded 199 times
  • Download rankings, all-time:
    • Site-wide: 115,467
    • In genetics: 4,925
  • Year to date:
    • Site-wide: 100,608
  • Since beginning of last month:
    • Site-wide: 86,605

Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits - the Hispanic/Latino Anthropometry Consortium

genetics more details view paper
  • Downloaded 178 times
  • Download rankings, all-time:
    • Site-wide: 120,502
    • In genetics: 5,080
  • Year to date:
    • Site-wide: 25,026
  • Since beginning of last month:
    • Site-wide: 3,805

Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study

genetic and genomic medicine more details view paper
  • Downloaded 169 times
  • Download rankings, all-time:
    • Site-wide: 122,525
    • In genetic and genomic medicine: 620
  • Year to date:
    • Site-wide: 26,615
  • Since beginning of last month:
    • Site-wide: 25,047

A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes

genetic and genomic medicine more details view paper
  • Downloaded 131 times
  • Download rankings, all-time:
    • Site-wide: 130,645
    • In genetic and genomic medicine: 683
  • Year to date:
    • Site-wide: 35,479
  • Since beginning of last month:
    • Site-wide: 39,195

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 61 times
  • Download rankings, all-time:
    • Site-wide: 141,882
    • In intensive care and critical care medicine: 312
  • Year to date:
    • Site-wide: 72,092
  • Since beginning of last month:
    • Site-wide: 16,641

PanLingua

News