Author: Hakon Hakonarson

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Preprints

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

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  • Site-wide: 738
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• Year to date:
  • Site-wide: 3,367
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  • Site-wide: 4,817

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

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  • Site-wide: 3,570
  • In genetics: 129
• Year to date:
  • Site-wide: 42,163
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  • Site-wide: 39,972

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

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  • Site-wide: 4,460
  • In bioinformatics: 443
• Year to date:
  • Site-wide: 31,885
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  • Site-wide: 55,192

A cross-disorder dosage sensitivity map of the human genome

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  • Site-wide: 7,826
  • In genetic and genomic medicine: 31
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  • Site-wide: 860
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  • Site-wide: 3,398

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

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  • Site-wide: 7,874
  • In genetics: 353
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Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

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  • Site-wide: 13,442
  • In genetics: 630
• Year to date:
  • Site-wide: 89,126
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  • Site-wide: 115,393

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

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  • Site-wide: 16,271
  • In bioinformatics: 1,917
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  • Site-wide: 89,306
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  • 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

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  • Site-wide: 17,183
  • In genetics: 818
• Year to date:
  • Site-wide: 91,170
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  • Site-wide: 89,127

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

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  • Site-wide: 20,909
  • In genomics: 2,048
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  • Site-wide: 88,797
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  • Site-wide: 64,051

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

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  • Site-wide: 22,039
  • In genetics: 1,032
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  • Site-wide: 99,807
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  • Site-wide: 99,286

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

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  • Site-wide: 28,939
  • In genetics: 1,364
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  • Site-wide: 89,920
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  • Site-wide: 115,517

Low frequency and rare coding variation contributes to multiple sclerosis risk

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  • Site-wide: 32,585
  • In genetics: 1,530
• Year to date:
  • Site-wide: 132,605
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  • Site-wide: 132,905

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

• Downloaded 763 times
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  • Site-wide: 33,619
  • In genetics: 1,569
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  • Site-wide: 19,801
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  • Site-wide: 88,906

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

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  • Site-wide: 42,550
  • In genomics: 3,469
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  • Site-wide: 95,554

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

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  • Site-wide: 46,682
  • In genetics: 2,131
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  • Site-wide: 78,980
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  • Site-wide: 107,495

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

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  • Site-wide: 46,756
  • In genetic and genomic medicine: 172
• Year to date:
  • Site-wide: 13,119
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  • 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

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  • Site-wide: 48,353
  • In genomics: 3,787
• Year to date:
  • Site-wide: 26,744
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  • Site-wide: 35,914

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

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  • Site-wide: 53,624
  • In allergy and immunology: 87
• Year to date:
  • Site-wide: 61,855
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  • Site-wide: 62,373

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

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  • Site-wide: 53,547
  • In genomics: 4,108
• Year to date:
  • Site-wide: 110,020
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  • Site-wide: 108,963

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

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  • Site-wide: 54,929
  • In genetics: 2,483
• Year to date:
  • Site-wide: 129,192
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  • 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

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  • Site-wide: 56,317
  • In genetic and genomic medicine: 213
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  • Site-wide: 73,155
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Genomic risk scores for juvenile idiopathic arthritis and its subtypes

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  • Site-wide: 62,371
  • In rheumatology: 42
• Year to date:
  • Site-wide: 100,458
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  • Site-wide: 86,050

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

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  • Site-wide: 64,390
  • In genetic and genomic medicine: 245
• Year to date:
  • Site-wide: 24,223
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  • Site-wide: 22,487

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

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  • Site-wide: 64,752
  • In bioinformatics: 6,301
• Year to date:
  • Site-wide: 88,881
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  • 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.

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  • Site-wide: 65,174
  • In genetics: 2,945
• Year to date:
  • Site-wide: 126,968
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  • Site-wide: 118,139

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

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  • Site-wide: 71,239
  • In bioinformatics: 6,732
• Year to date:
  • Site-wide: 93,677
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  • Site-wide: 141,796

Integrative Genetics Analysis of Juvenile Idiopathic Arthritis Identifies Novel Loci

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  • Site-wide: 77,515
  • In allergy and immunology: 113
• Year to date:
  • Site-wide: 52,012
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  • Site-wide: 34,832

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

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  • Site-wide: 77,675
  • In infectious diseases: 3,549
• Year to date:
  • Site-wide: 111,574
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  • Site-wide: 93,662

Machine Learning for Interpretation of DNA Variants of Maturity-Onset Diabetes of the Young Genes Based on ACMG Criteria

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  • Site-wide: 83,250
  • In genetic and genomic medicine: 337
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  • Site-wide: 45,923
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  • Site-wide: 41,637

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

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  • Site-wide: 85,887
  • In pathology: 431
• Year to date:
  • Site-wide: 114,090
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Genetic association of primary non-response to Anti-TNFα therapy in patients with Inflammatory Bowel Disease

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  • Site-wide: 90,358
  • In genetic and genomic medicine: 375
• Year to date:
  • Site-wide: 56,160
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  • Site-wide: 62,298

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

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  • Site-wide: 90,974
  • In genetic and genomic medicine: 378
• Year to date:
  • Site-wide: 116,702
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  • 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.

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  • Site-wide: 99,790
  • In immunology: 2,904
• Year to date:
  • Site-wide: 60,912
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  • Site-wide: 47,438

Genomic Considerations for FHIR; eMERGE Implementation Lessons

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  • Site-wide: 106,616
  • In genomics: 6,221
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  • Site-wide: 17,251
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  • Site-wide: 15,295

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

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  • Site-wide: 107,164
  • In molecular biology: 3,173
• Year to date:
  • Site-wide: 35,261
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  • Site-wide: 37,914

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

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  • Site-wide: 107,333
  • In genetic and genomic medicine: 505
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  • Site-wide: 60,359

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

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  • Site-wide: 111,228
  • In cardiovascular medicine: 246
• Year to date:
  • Site-wide: 100,856
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  • Site-wide: 88,773

Genetics of Low Polygenic Risk Score Type 1 Diabetes Patients: rare variants in 22 novel loci

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  • Site-wide: 113,751
  • In genetic and genomic medicine: 559
• Year to date:
  • Site-wide: 65,583
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  • Site-wide: 35,346

Machine learning reduced gene/non-coding RNA features that classify Schizophrenia patients accurately and highlight insightful gene clusters

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  • Site-wide: 115,053
  • In psychiatry and clinical psychology: 507
• Year to date:
  • Site-wide: 86,350
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  • Site-wide: 62,482

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

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  • Site-wide: 115,467
  • In genetics: 4,925
• Year to date:
  • Site-wide: 100,608
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  • Site-wide: 86,605

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

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  • Site-wide: 120,502
  • In genetics: 5,080
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Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study

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  • Site-wide: 122,525
  • In genetic and genomic medicine: 620
• Year to date:
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  • Site-wide: 25,047

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

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  • Site-wide: 130,645
  • In genetic and genomic medicine: 683
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Elevation of Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries

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  • Site-wide: 141,882
  • In intensive care and critical care medicine: 312
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