H. Hakonarson

PROFILE

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Aliases
Hakon H Hakonarson, Hakon Hakonarson, Hakon H. Hakonarson, H. Hakonarson, H Hakonarson, Håkon Håkonarson
Publication record
1,211 papers · 132,851 citations · H-index 169

PAPERS

Metabolic Signatures of Breast Cancer Subtypes and the Metabolic Impact of Chemotherapy
20260 citationsauthor #17
Leveraging transdiagnostic genetic liability to psychiatric disorders to dissect clinical outcomes of anorexia nervosa
20250 citationsauthor #102
The gSOS Polygenic Score is Associated with Bone Density and Fracture Risk in Childhood
20250 citationsauthor #12
343. Fasoracetam for Neuropsychiatric Symptoms in Children and Adolescents With 22q11.2 Deletion Syndrome: A Randomized Crossover Phase II Clinical Trial
20250 citationsauthor #12
Integrative GWAS Identifies Novel Loci and Genetic Links Between Psychiatric and Metabolic Factors in Anorexia Nervosa
20250 citationsauthor #4
Author Correction: GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia
20250 citationsauthor #193
Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer’s disease
20256 citationsauthor #119
Implementing Integrated Genomic Risk Assessments for Breast Cancer: Lessons Learned from the eMERGE Study
20250 citationsauthor #32
Implementing integrated genomic risk assessments for breast cancer: lessons learned from the Electronic Medical Records and Genomics study
20251 citationsauthor #32
Genome-wide association studies of binge eating behaviour and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes
20255 citationsauthor #116
One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.
20258 citationsauthor #46
Genome-wide association study and HLA genotyping for beryllium disease susceptibility in a European descent population.
20250 citationsauthor #13
Author Correction: Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes
20240 citationsauthor #100
A framework for conducting GWAS using repeated measures data with an application to childhood BMI
20246 citationsauthor #10
Multi-ancestry Genome-Wide Association Meta-Analysis Identifies Novel Loci in Atopic Dermatitis
20243 citationsauthor #16
Revealing Novel Genomic Insights and Therapeutic Targets for Juvenile Idiopathic Arthritis through Omics.
20241 citationsauthor #13
Increased Expression of ZFPM2 Bypasses SRY to Drive 46,XX Testicular Development: A New Mechanism of 46,XX DSD
20240 citationsauthor #7
Correspondence on "Weighty matters: Considering the ethics of genetic risk scores for obesity" by C. Houtz.
20240 citationsauthor #14
Voriconazole metabolism is associated with the number of skin cancers per patient
20242 citationsauthor #9
CRISPR/Cas9 screenings unearth protein arginine methyltransferase 7 as a novel essential gene in prostate cancer metastasis.
20246 citationsauthor #13
An analysis of differential gene expression in peripheral nerve and muscle utilizing RNA sequencing after polyethylene glycol nerve fusion in a rat sciatic nerve injury model
20241 citationsauthor #8
A One-Shot Lossless Algorithm for Cross-Cohort Learning in Mixed-Outcomes Analysis
20241 citationsauthor #5
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
202425 citationsauthor #100
A framework for conducting time-varying genome-wide association studies: An application to body mass index across childhood in six multiethnic cohorts
20240 citationsauthor #10
GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia
202442 citationsauthor #192
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
2024136 citationsauthor #27
Shared molecular mechanisms and transdiagnostic potential of neurodevelopmental disorders and immune disorders.
20249 citationsauthor #11
The common variable immunodeficiency IgM repertoire narrowly recognizes erythrocyte and platelet glycans.
20241 citationsauthor #16
Single-Cell Omics for Transcriptome CHaracterization (SCOTCH): isoform-level characterization of gene expression through long-read single-cell RNA sequencing
20245 citationsauthor #6
Target genes regulated by CLEC16A intronic region associated with common variable immunodeficiency.
20242 citationsauthor #18
Companion to: A molecular basis for milk allergen immune recognition in eosinophilic esophagitis
20241 citationsauthor #8
Methylome-wide analysis in systemic microbial-induced experimental periodontal disease in mice with different susceptibility
20242 citationsauthor #7
Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes
202411 citationsauthor #101
A Comprehensive Approach to Clinical Decision Support in the Return of Genome Informed Risk Assessments to Primary Care Pediatricians
20241 citationsauthor #6
Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network.
20249 citationsauthor #8
Genetic sex validation for sample tracking in next-generation sequencing clinical testing
20242 citationsauthor #82
The historical background of hereditary cystatin C amyloid angiopathy: Genealogical, pathological, and clinical manifestations
20244 citationsauthor #2
O27: Utility of cfDNA in comprehensive genomic profiling of complex vascular anomalies: Informing decision making in medical therapy
20241 citationsauthor #24
Oncogene-induced matrix reorganization controls CD8+ T cell function in the soft-tissue sarcoma microenvironment
202413 citationsauthor #16
Whole genome‐wide sequence analysis of long‐lived families (Long‐Life Family Study) identifies MTUS2 gene associated with late‐onset Alzheimer's disease
202411 citationsauthor #106
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
202426 citationsauthor #109
Implementing DPYD/UGT1A1testing to prevent treatment related adverse events (TRAE) in patients with gastrointestinal (GI) cancer: Results of a pragmatic implementation trial.
20240 citationsauthor #10
Exploring the Therapeutic Potential for Breast Cancer of Phytochemicals and Secondary Metabolites in Marjoram, Thyme, and Persimmon
20243 citationsauthor #5
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.
20245 citationsauthor #20
GWAS reveals Genetic Susceptibility to Air Pollution-Related Asthma Exacerbations in Children of African Ancestry
20240 citationsauthor #6
Clinical associations with a polygenic predisposition to benign lower white blood cell counts
20245 citationsauthor #17
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.
202420 citationsauthor #18
Oxidative phosphorylation regulates B cell effector cytokines and promotes inflammation in multiple sclerosis
202422 citationsauthor #17
Dependency-aware deep generative models for multitasking analysis of spatial omics data
202442 citationsauthor #5
NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways
20243 citationsauthor #18
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
202329 citationsauthor #153
Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions
202311 citationsauthor #9
Causality of Genetically Determined Monounsaturated Fatty Acids on Risk of Cardiovascular Disease: A Mendelian Randomization Study
20230 citationsauthor #9
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
202330 citationsauthor #54
Education and Electronic Medical Records and Genomics Network, Challenges and Lessons Learned from a Large-Scale Clinical Trial Using Polygenic Risk Scores.
202313 citationsauthor #34
RNA Sequencing in Hypoxia-Adapted T98G Glioblastoma Cells Provides Supportive Evidence for IRE1 as a Potential Therapeutic Target
20235 citationsauthor #3
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
2023147 citationsauthor #109
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
20238 citationsauthor #8
Mitochondrial DNA Haplogroup K Is Protective of Autism Spectrum Disorder Risk in Populations of European Ancestry.
202310 citationsauthor #5
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
202310 citationsauthor #39
Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes
202326 citationsauthor #34
The Circassians and the Chechens in Jordan: results of a decade of epidemiological and genetic studies
20231 citationsauthor #10
Monogenic etiologies of epidermodysplasia verruciformis: A comprehensive systematic review
20230 citationsauthor #10
Erratum: Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium.
20233 citationsauthor #39
Author Correction: The power of genetic diversity in genome-wide association studies of lipids
20238 citationsauthor #407
Common Genetic Variation and Age of Onset of Anorexia Nervosa
20230 citationsauthor #55
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development
20231 citationsauthor #10
Clinical consequences of a polygenic predisposition to benign lower white blood cell counts
20230 citationsauthor #17
SOCS-JAK-STAT inhibitors and SOCS mimetics as treatment options for autoimmune uveitis, psoriasis, lupus, and autoimmune encephalitis
202347 citationsauthor #3
Complex hierarchical structures in single-cell genomics data unveiled by deep hyperbolic manifold learning
202320 citationsauthor #5
Ambient air pollution sensitivity and severity of pediatric asthma
20238 citationsauthor #3
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition
202332 citationsauthor #33
TOPORS as a novel causal gene for Joubert syndrome
20235 citationsauthor #8
Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection
20233 citationsauthor #19
Trans‐ethnic polygenic risk scores for body mass index: An international hundred K+ cohorts consortium study
20233 citationsauthor #20
Insights Image for “Treatment of severe Kaposiform Lymphangiomatosis positive for NRAS mutation by MEK-inhibition”
20231 citationsauthor #12
Trans‐ethnic polygenic risk scores for body mass index
20230 citationsauthor #3
Author Correction: Genetic effects on the timing of parturition and links to fetal birth weight
20231 citationsauthor #50
Impact of high‐risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study
20231 citationsauthor #18
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA
20234 citationsauthor #17
Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient
20230 citationsauthor #9
Author Correction: Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection
20230 citationsauthor #19
GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.
2023105 citationsauthor #58
Performance of prenatal cfDNA screening for sex chromosomes.
202315 citationsauthor #21
Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders
202310 citationsauthor #15
Genetics of varicose veins reveals polygenic architecture and genetic overlap with arterial and venous disease
20239 citationsauthor #15
Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort
20231 citationsauthor #15
Germline pathogenic variants in 786 neuroblastoma patients
20234 citationsauthor #18
Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes.
202312 citationsauthor #8
Trans-ethnic Polygenic Risk Scores for Body Mass Index: An International Hundred K+ Cohorts Consortium Study
20230 citationsauthor #19
Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies LRRC4C, LHX5-AS1 and nominates ancestry-specific loci PTPRK, GRB14, and KIAA0825 as novel risk loci for Alzheimer disease: the Alzheimer Disease Genetics Consortium
20231,232 citationsauthor #113
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
20231 citationsauthor #14
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
20233 citationsauthor #13
Monogenic etiologies of persistent human papillomavirus infections: a comprehensive systematic review.
20239 citationsauthor #10
Clinical Decision Support with a Comprehensive in-EHR Patient Tracking System Improves Genetic Testing Follow Up
20237 citationsauthor #9
A protective role of low polygenic risk score in healthy individuals carrying ADHD-associated CNVs.
20232 citationsauthor #5
Abstract 14779: Whole Exome Sequencing Study in Pediatric Postural Orthostatic Tachycardia Syndrome Unveils a Path Forward From Genes to Drugs
20230 citationsauthor #8
CRISPR/Cas9 screenings unearth protein arginine methyltransferase 7 as a novel driver of metastasis in prostate cancer
20230 citationsauthor #12
P286: Single vs dual disease causing variant load in a pediatric cohort with congenital anomalies and cancer
20230 citationsauthor #11
Genome-wide association study of the age of onset of type 1 diabetes reveals HTATIP2 as a novel T cell regulator
20234 citationsauthor #7

TIMELINE

1992 0 citations

1995 55 citations

2001 171 citations

2002 272 citations

2003 76 citations

2004 1,077 citations

2005 1,041 citations

2006 719 citations

2007 2,603 citations

2008 3,611 citations

2009 9,698 citations

2010 26,468 citations

2011 12,815 citations

2012 7,971 citations

2013 15,671 citations

2014 8,438 citations

2015 6,008 citations

2016 5,056 citations

2017 4,136 citations

2018 4,562 citations

2019 7,006 citations

2020 2,846 citations

2021 3,177 citations

2022 3,780 citations

2023 2,215 citations

2024 421 citations

2025 20 citations

2026 0 citations

Unknown 22 citations

H. Hakonarson

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