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Author: Hakon Hakonarson

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    • bioinformatics: 4,534 (rank: 2,038 out of 32,727)
    • genetics: 22,075 (rank: 314 out of 35,276)
    • genomics: 2,257 (rank: 8,430 (tie) out of 40,683)
    • pathology: 244 (rank: 2,463 (tie) out of 4,068)

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Preprints

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

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

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

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

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

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

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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

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

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

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Low frequency and rare coding variation contributes to multiple sclerosis risk

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Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

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

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

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

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

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

genomics more details view paper
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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.

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

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

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

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

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