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: 854
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• Year to date:
  • Site-wide: 3,768
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  • Site-wide: 10,753

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

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  • Site-wide: 4,129
  • In genetics: 140
• Year to date:
  • Site-wide: 55,391
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  • Site-wide: 91,784

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

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  • Site-wide: 5,117
  • In bioinformatics: 482
• Year to date:
  • Site-wide: 41,873
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  • Site-wide: 96,954

A cross-disorder dosage sensitivity map of the human genome

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  • Site-wide: 6,720
  • In genetic and genomic medicine: 30
• Year to date:
  • Site-wide: 1,382
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  • Site-wide: 8,597

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

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  • Site-wide: 9,172
  • In genetics: 381
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  • Site-wide: 142,614

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

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  • Site-wide: 15,983
  • In genetics: 704
• Year to date:
  • Site-wide: 133,023
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  • Site-wide: 157,491

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

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  • Site-wide: 19,069
  • In bioinformatics: 2,156
• Year to date:
  • Site-wide: 124,250
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  • Site-wide: 124,367

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: 20,103
  • In genetics: 894
• Year to date:
  • Site-wide: 126,168
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  • Site-wide: 135,532

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

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  • Site-wide: 24,315
  • In genomics: 2,222
• Year to date:
  • Site-wide: 121,083
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  • Site-wide: 117,751

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

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  • Site-wide: 25,179
  • In genetics: 1,106
• Year to date:
  • Site-wide: 116,278
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  • Site-wide: 87,450

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

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  • Site-wide: 32,705
  • In genetics: 1,429
• Year to date:
  • 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

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  • Site-wide: 35,177
  • In genetics: 1,543
• Year to date:
  • Site-wide: 31,868
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  • Site-wide: 38,690

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

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  • Site-wide: 38,112
  • In genetic and genomic medicine: 179
• Year to date:
  • Site-wide: 15,103
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  • Site-wide: 22,832

Low frequency and rare coding variation contributes to multiple sclerosis risk

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  • Site-wide: 39,191
  • In genetics: 1,698
• Year to date:
  • Site-wide: 157,964
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  • Site-wide: 145,180

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: 46,411
  • In genomics: 3,582
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  • Site-wide: 33,432
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  • Site-wide: 68,195

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

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  • Site-wide: 47,753
  • In genomics: 3,668
• Year to date:
  • Site-wide: 121,351
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  • Site-wide: 97,618

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: 50,447
  • In genetic and genomic medicine: 237
• Year to date:
  • Site-wide: 50,482
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  • Site-wide: 34,101

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

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  • Site-wide: 55,411
  • In allergy and immunology: 124
• Year to date:
  • Site-wide: 69,470
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  • Site-wide: 71,267

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

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  • Site-wide: 56,155
  • In genetic and genomic medicine: 264
• Year to date:
  • Site-wide: 26,968
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  • Site-wide: 41,933

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

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  • Site-wide: 56,927
  • In genetics: 2,412
• Year to date:
  • Site-wide: 137,344
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  • Site-wide: 156,159

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

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  • Site-wide: 61,089
  • In genetics: 2,603
• Year to date:
  • Site-wide: 128,869
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  • Site-wide: 66,770

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

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  • Site-wide: 63,850
  • In genomics: 4,530
• Year to date:
  • Site-wide: 146,699
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  • Site-wide: 152,541

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

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  • Site-wide: 68,880
  • In genetics: 2,930
• Year to date:
  • 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.

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  • Site-wide: 69,995
  • In immunology: 2,140
• Year to date:
  • Site-wide: 30,014
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  • Site-wide: 5,795

Genomic risk scores for juvenile idiopathic arthritis and its subtypes

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  • Site-wide: 70,966
  • In rheumatology: 59
• Year to date:
  • Site-wide: 125,418
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  • Site-wide: 146,666

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: 73,997
  • In genetics: 3,134
• Year to date:
  • Site-wide: 137,936
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  • Site-wide: 116,083

Integrative Genetics Analysis of Juvenile Idiopathic Arthritis Identifies Novel Loci

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  • Site-wide: 73,985
  • In allergy and immunology: 148
• Year to date:
  • Site-wide: 53,927
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  • Site-wide: 45,977

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

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  • Site-wide: 75,564
  • In bioinformatics: 6,959
• Year to date:
  • Site-wide: 127,471
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  • Site-wide: 153,996

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

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  • Site-wide: 78,226
  • In bioinformatics: 7,131
• Year to date:
  • Site-wide: 109,693
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  • Site-wide: 106,389

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

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  • Site-wide: 81,962
  • In infectious diseases: 4,192
• Year to date:
  • Site-wide: 105,475
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  • Site-wide: 94,904

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: 85,613
  • In genetic and genomic medicine: 421
• Year to date:
  • Site-wide: 60,917
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  • Site-wide: 87,942

Genetic association of primary non-response to Anti-TNFα therapy in patients with Inflammatory Bowel Disease

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  • Site-wide: 87,929
  • In genetic and genomic medicine: 440
• Year to date:
  • Site-wide: 59,755
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  • Site-wide: 64,505

Genomic Considerations for FHIR; eMERGE Implementation Lessons

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  • Site-wide: 90,909
  • In genomics: 5,731
• Year to date:
  • Site-wide: 21,840
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  • Site-wide: 34,584

Elevation of Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries

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  • Site-wide: 96,873
  • In intensive care and critical care medicine: 230
• Year to date:
  • Site-wide: 24,291
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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

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  • Site-wide: 99,651
  • In pathology: 522
• Year to date:
  • Site-wide: 141,785
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A genome-wide association study of polycystic ovary syndrome identified from electronic health records

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  • Site-wide: 104,224
  • In genetic and genomic medicine: 563
• Year to date:
  • Site-wide: 139,246
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  • Site-wide: 135,866

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

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  • Site-wide: 106,148
  • In molecular biology: 3,153
• Year to date:
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  • Site-wide: 71,070

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

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  • Site-wide: 112,597
  • In cardiovascular medicine: 266
• Year to date:
  • Site-wide: 88,423
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  • Site-wide: 55,213

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

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  • Site-wide: 113,864
  • In genetic and genomic medicine: 638
• Year to date:
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  • Site-wide: 33,237

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

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  • Site-wide: 114,170
  • In genetic and genomic medicine: 640
• Year to date:
  • Site-wide: 69,128
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  • Site-wide: 62,613

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

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  • Site-wide: 114,562
  • In genetic and genomic medicine: 645
• Year to date:
  • Site-wide: 59,457
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  • Site-wide: 130,863

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

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  • Site-wide: 123,552
  • In genetics: 5,012
• Year to date:
  • Site-wide: 105,218
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  • Site-wide: 104,977

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

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  • Site-wide: 129,570
  • In genetic and genomic medicine: 746
• Year to date:
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  • Site-wide: 48,275

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

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  • Site-wide: 132,587
  • In psychiatry and clinical psychology: 682
• Year to date:
  • Site-wide: 127,226
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  • Site-wide: 136,180

Elevated levels of the cytokine LIGHT in Crohn's disease

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  • Site-wide: 141,429
  • In gastroenterology: 224
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  • Site-wide: 56,819
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  • Site-wide: 73,248

A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

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  • Site-wide: 160,869
  • In genetic and genomic medicine: 1,030
• Year to date:
  • Site-wide: 121,983
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