Hakon Hakonarson MD

PubMed

• Sex-specific spirometry effects of adult COPD polygenic score in children with asthma.
  Jelte Kelchtermans, Joseph M Collaco, Huiqi Qu, Frank Mentch, Sharon A McGrath-Morrow
  Scientific Reports. 2025-04-02
• Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis.
  Meritxell Oliva, Mrinal K Sarkar, Michael E March, Amir Hossein Saeidian, Frank D Mentch
  Nature Communications. 2025-04-01
• N-Acetylcysteine for Hereditary Cystatin C Amyloid Angiopathy: A Nonrandomized Clinical Trial.
  Asbjorg Osk Snorradottir, Alvaro Gutierrez-Uzquiza, Paloma Bragado, Michael E March, Charlly Kao
  JAMA Neurology. 2025-03-31

Journal Articles

• Discovery of the First Genome-Wide Significant Risk Loci for Attention deficit/hyperactivity Disorder  
  Henry R Kranzler, Hakon Hakonarson, Michael Gandal, Elise B Robinson, Nature
• KAT6A Syndrome: Genotype–Phenotype Correlation in 76 Patients with Pathogenic KAT6A Variants  
  Valerie A Arboleda, Marni J Falk, Stanley F Nelson, Hakon Hakonarson, Susan Schelley, Nature
• Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism  
  Hakon Hakonarson, Michael A Levine, The Journal of Clinical Endocrinology and Metabolism
• High-density mapping of the MHC identifies a shared role for HLA-DRB101:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis  
  Goyette P, Boucher G, Mallon D, Ellinghaus E, Jostins L, Huang H, Ripke S, Gusareva ES, Annese V, Hauser SL, Oksenberg JR, Thomsen I, Leslie S; International Inflammat..., Nat Genet, 1/1/2015
• Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder  
  Maier R, Moser G, Chen GB, Ripke S; Cross-Disorder Working Group of the Psychiatric Genomics Consortium, Coryell W, Potash JB, Scheftner WA, Shi J, Weissman MM, Hultma..., Am J Hum Genet, 1/1/2015
• Genetic studies of body mass index yield new insights for obesity biology  
  Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, Powell C, Vedantam S, Buchkovich ML, Yang J, Croteau-Chonka DC, Esko T, Fall T, Ferreira T, Gustafsson S, K..., Nature, 1/1/2015
• Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers  
  Onengut-Gumuscu S, Chen WM, Burren O, Cooper NJ, Quinlan AR, Mychaleckyj JC, Farber E, Bonnie JK, Szpak M, Schofield E, Achuthan P, Guo H, Fortune MD, Stevens H, Walke..., Nat Genet, 1/1/2015
• Circulating brain-derived neurotrophic factor concentrations and the risk of cardiovascular disease in the community  
  Kaess BM, Preis SR, Lieb W, Beiser AS, Yang Q, Chen TC, Hengstenberg C, Erdmann J, Schunkert H, Seshadri S, Vasan RS; CARDIoGRAM, Assimes TL, Deloukas P, Holm H, Kathi..., J Am Heart Assoc, 1/1/2015
• Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study  
  Ostergaard SD, Mukherjee S, Sharp SJ, Proitsi P, Lotta LA, Day F, Perry JR, Boehme KL, Walter S, Kauwe JS, Gibbons LE; Alzheimer's Disease Genetics Consortium; GERAD1 ..., PLoS Med, 1/1/2015
• Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder [Internet]  
  Sun F, Oristaglio J, Levy SE, Hakonarson H, Sullivan N, Fontanarosa J, Schoelles KM, Rockville (MD): Agency for Healthcare Research and Quality (US), 1/1/2015
• Using ancestry-informative markers to identify fine structure across 15 populations of European origin  
  GCAN (Hakonarson H), Eur J Hum Genet, 1/19/2014
• B-36Relationships between Body Mass Index and Social Cognition among 8-19 Year-Olds  
  Culnan E, Zamzow J, Spiers M, Calkins M, Satterthwaite T, Ruparel K, Abrams D, Chiavacci R, Hakonarson H, Gur R, Arch Clin Neuropsychol, 1/1/2014
• B-37The Relationship between Body Mass Index and Executive Function from Late Childhood through Adolescence  
  Zamzow J, Culnan E, Spiers M, Calkins M, Satterthwaite T, Ruparel K, Abrams D, Chiavacci R, Hakonarson H, Gur R, Arch Clin Neuropsychol, 1/1/2014
• Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations  
  Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Stromme P, de Gra..., Neurology, 1/1/2014
• Causal effects of body mass index on cardiometabolic traits and events: a mendelian randomization analysis  
  Holmes MV, Lange LA, Palmer T, Lanktree MB, North KE, Almoguera B, Buxbaum S, Chandrupatla HR, Elbers CC, Guo Y, Hoogeveen RC, Li J, Li YR, Swerdlow DI, Cushman M, Pri..., Am J Hum Genet, 1/1/2014
• Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood- Pressure-Related Loci  
  Tragante V, Barnes MR, Ganesh SK, Lanktree MB, Guo W, Franceschini N, Smith EN, Johnson T, Holmes MV, Padmanabhan S, Karczewski KJ, Almoguera B, Barnard J, Baumert J, ..., Am J Hum Genet, 1/1/2014
• Perindopril treatment promote left ventricle remodeling in patients with heart failure screened positive for autoantibodies against angiotensin II type 1 receptor  
  Du Q, Wu J, Wang H, Wang X, Xu L, Zhang Z, Liu J, Zhang J, Chen J, Hakonarson H, Hu AH, Zhang L, BMC Cardiovasc Disord, 1/31/2013
• Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing  
  O'Rawe J, Guangqing S, Wang W, Hu J, Bodily P, Tian L, Hakonarson H, Johnson E, Wei Z, Jiang T, Wang K, Lyon G, Wu Y, Genome Med, 1/27/2013
• Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease  
  Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, Jun G, Destefano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Jones N, ..., Nat Genet, 1/27/2013
• Network-Based Multiple Sclerosis Pathway Analysis with GWAS Data from 15,000 Cases and 30,000 Controls  
  International Multiple Sclerosis Genetics Consortium, Am J Hum Genet, 1/22/2013
• Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis  
  Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, M..., Am J Hum Genet, 1/22/2013
• Large Sample Size, Wide Variant Spectrum, and Advanced Machine-Learning Technique Boost Risk Prediction for Inflammatory Bowel Disease  
  Wei Z, Wang W, Bradfield J, Li J, Cardinale C, Frackelton E, Kim C, Mentch F, Van Steen K, Visscher PM, Baldassano RN, Hakonarson H; the International IBD Genetics Con..., Am J Hum Genet, 1/22/2013
• Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity  
  Cousminer DL, Berry DJ, Timpson NJ, Ang W, Thiering E, Byrne EM, Taal HR, Huikari V, Bradfield JP, Kerkhof M, Groen-Blokhuis MM, Kreiner-Moller E, Marinelli M, Holst C..., Hum Mol Genet, 1/21/2013
• High Loading of Polygenic Risk for ADHD in Children With Comorbid Aggression  
  Hamshere ML, Langley K, Martin J, Agha SS, Stergiakouli E, Anney RJ, Buitelaar J, Faraone SV, Lesch KP, Neale BM, Franke B, Sonuga-Barke E, Asherson P, Merwood A, Kunt..., Am J Psychiatry, 1/19/2013
• Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal associ...  
  Sabater-Lleal M, Huang J, Chasman D, Naitza S, Dehghan A, Johnson AD, Teumer A, Reiner AP, Folkersen L, Basu S, Rudnicka AR, Trompet S, Malarstig A, Baumert J, Bis JC,..., Circulation, 1/17/2013
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Books/Book Chapters

• Pediatric Inflammatory Bowel Disease 
  Chapter: Genetics of Inflammatory Bowel Diseases. 
  Page 3 - 12Wei Z, Baldassano S, Hakonarson HEditors: Petar Mamula, Jonathan E. Markowitz, Robert N. Baldassano.2013
• Strategies for Studying the Epilepsy Genome. 
  Chapter: Strategies for Studying the Epilepsy Genome. 
  Ferraro TN, Dlugos DJ, Hakonarson H, Buono RJEditors: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV.National Center for Biotechnology Information (US), Bethesda, MDEdition 4th,2012
• The Genetics of Ausism Spectrum Disorders. 
  Connolly JM and Hakonarson HEditors: Stephen I Deutsch and Maria Urbano.InTech2011
• The Genetics of Type 1 Diabetes 
  Marina B and Hakonarson HEditors: Stephen I Deutsch and Maria Urbano.InTech2011
• Methods in Pharmacology and Toxicology: Pharmacogenomics and Personalized Medicine. 
  Chapter: Pharmacogenetic Applications in Children. 
  Grant S.F.A. & Hakonarson HEditors: Nadine Cohen.2009
• Asthma Genetics 
  Chapter: Genetics and Proteomics of Asthma. 
  Grant S & Hakonarson HEditors: Stephen Holgate.2009
• Genetics of Asthma and COPD. 
  Chapter: Introduction to genetics. 
  Halapi E and Hakonarson HEditors: Postma and Weiss.Taylor & Francis Group LLC2006
• Pharmacogenomics 
  Chapter: Identification of Treatment Response Genes. 
  Hakonarson, H and E HalapiEditors: Hall, Pirmohamed and Tucker.2006
• Clinical Handbook Of Pediatrics (CHOP). 
  Chapter: Hemoptysis. 
  Page 344 - 352Hakonarson, H., Kravitz, R. M.Editors: William M. Schwartz.Williams and WilkinsEdition 2nd,1999
• ASTHMA 
  Chapter: Management of Childhood Asthma. 
  Page 1847 - 1868Hakonarson, H., Grunstein, M.M.Editors: P.J. Barnes, M.M. Grunstein, A. Leff, A.J. Woolcock.Raven Press1997
• The Five Minute Pediatric Consult. 
  Chapter: APNEA. 
  Page 110 - 112Hakonarson, HEditors: William M. Schwartz.Williams and Wilkins1996
• The Five Minute Pediatric Consult. 
  Chapter: ASTHMA. 
  Page 126 - 129Hakonarson, HEditors: William M. Schwartz.Williams and Wilkins1996
• The Five Minute Pediatric Consult. 
  Chapter: Bronchiolitis. 
  Page 178 - 180Hakonarson, HEditors: William M. Schwartz.Williams and Wilkins1996
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Abstracts/Posters

• Type I Interferon Response Identified through Phenotypic and Transcriptional Profiling of Circulating Immune Cells during Idiopathic Multicentric Castleman Disease Flare
  Hakon Hakonarson, 61st Annual American Society of Hematology Meeting, Orlando, FL, 12/7/2019
• SuperVario: a Common Repository for…
  A. Wenocur, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• Investigation of the role of rare…
  B. Almogera, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• Whole exome sequencing of very early-onset…
  C. Cardinale, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• High-Throughput Screening for Rare Copy…
  C. Kao, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• De novo mutations in novel histone and ...
  D. Li, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• Novel gene discovery across a large cohort…
  E. Bhoj, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• Bitmap indexing of genotyes improves…
  H. Qiu, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• A trans-ethnic meta-analysis of genome…
  J. Bradfield, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• Variants in CNTN5 Associated with ADHD...
  J. Connolly, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• Genome-wide association study of acute ...
  J. Li, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• in silico analyses of complex systems for...
  K. Nguyen, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• A meta-analysis of atopic dermatitis…
  L. Vazquez, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• Copy Number Variations in CTNNA3 and…
  M. Bakay, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• Association of rs6967330, a functional…
  M. March, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• Common Variants in PTGES Associated with ...
  P. Sleiman, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• The type 1 diabetes susceptibility gene…
  R. Pandey, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• Rare variants in ALOX5 may be associated…
  R. Pellegrino, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• Whole exome sequencing identified a splice…
  Y. Guo, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• Genetic Sharing and Heritability of…
  Y. Li, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• Non-coding RNA dysregulation in…
  Y. Liu, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• Genetic risk variants converge in NMDAR…
  Z. Wei, H. Hakonarson, ASHG, Baltimore, MD, 1/1/2015
• Mancini Identification of a homozygous CLN5 mutation p.S312N in a family with adult-onset cerebellar ataxia.
  A. Brusco, S. Nassani, Y. Guo, E. Giorgio, A. Calcia, X. Liu, E. Di Gregorio, S. Cavalieri, E. Pozzi, A. Brussino, Y. Xie, F. Wang, L. Tian, W. Chen, B. Nmezi, Q. S. P..., ASHG, San Diego, CA, 1/1/2014
• Whole exome sequencing allows the identification of a novel large deletion in PRPF31 in a family with autosomal dominant retinitis pigmentosa.
  B. Almoguera, P. Fernandez-San Jose, Y. Liu, J. Liang, R. Golhar, M. March, R. Pellegrino, M. Corton, F. Blanco-Kelly, MI. Lopez-Molina, B. Garcia-Sandoval, Y. Guo, L...., ASHG, San Diego, CA, 1/1/2014
• Investigation of a missense in NOTCH4 in autosomal dominant scleroderma.
  C. J. Cardinale, D. Li, R. M. Chiavacci, L. Tian, S. J. Burnham, H. Hakonarson, ASHG, San Diego, CA, 1/1/2014
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Lectures

• Discovery and Utility of Genomic Biomarkers in Expediting Therapeutic Development in Complex Disease. 
  Gaithersburg, MD - 1/30/2015
• Understandding Genomics Variation: Precision Medicine in Pediatric Care and Therapeutic Development 
  Boston, MA - 1/22/2015
• Genomics Medicine at CAG 
  Philadelphia, PA - 1/19/2015
• The Impact of Genomic Variation in Clinical Development. 
  San Francisco, CA - 1/19/2015
• Application of genetic biomarkers in clinical service and drug development-The future of genomic medicine. 
  Singapore - 1/13/2015
• Genetics of asthma and auto-inflammatory diseases – innovative therapeutic opportunities. 
  Philadelphia, PA - 1/11/2015
• The Bio Sciences: Will Genetic Science Cure Us or Enslave Us? 
  Drexel University, Philadelphia, PA - 1/3/2015
• Role of Non-Neuronal Cholinergic System in Atopic Skin Disorders. 
  Malvern, PA - 1/1/2015
• EP575: Introduction to Genetic and Molecular Epidemiology 
  University of Pennsylvania, Philadelphia, PA - 1/1/2015
• Role of Common and Rare Variants in Drug Development through Patient Stratification 
  San Diego, CA - 1/30/2014
• NMDA receptor gene networks in Schizophrenia. 
  Philadelphia, PA - 1/28/2014
• Nervous System Disorders: Genomic Discoveries in Autism and ADHD 
  Philadelphia, PA - 1/27/2014
• Neurodevelopmental Cohort for Disease Interception Initiative -Early Psychosis Phenotypes, 
  CR-US-NJ-Titusville-BldgA-A12 - 1/24/2014
• The Value of Biomarker-tailored Patient Stratification in Drug Development. 
  1/22/2014
• The role of the "Researcher in Society" 
  Children's Hospital of Philadelphia, Philadelphia, PA - 1/21/2014
• Pharmacogenomics now and future. 
  Philadelphia, PA - 1/16/2014
• The Impact of Optimized Sequencing Analysis Pipeline in Genomic Medicine. 
  Marriott Marco Island Beach Resort, Marco Island, FL - 1/15/2014
• Future of Genome Medicine in Patient Care: Role of Common and Rare Variants in Drug Development through Patient Stratification 
  Boston, MA - 1/13/2014
• Genetics of Complex Pediatric Disorders and Impact on Clinical Medicine. 
  Children's Hospital of Pittsburgh of UPMC, Pittsburg, PA - 1/13/2014
• Utility of Genomic Biomarkers to Expedite Therapeutic Development for Autism and Other Neurodevelopmental Disorders. 
  UCA Irving, San Diego, CA - 1/12/2014
• The Value of Genomic Patient Stratification in Clinical Development 
  Edison, NJ - 1/11/2014
• A New Day for Pediatric Science: Modeling, Simulation, and other Tools for Advancement. Systems Biology: Understanding Complex Pathways of Disease Pathogenesis and Imp... 
  Bethesda, MD - 1/7/2014
• Unborn, Idiopathic and Healthy Aged - Update on Rare Disease Sequencing from CHOP and its Impact on Clinical Decision Making. 
  Samuel H. Scripps Auditorium La Jolla, CA - 1/7/2014
• Utility of genetic biomarkers to advance development of neurologicdal disorders, including schizophrenia and major depression. 
  Titusville, NJ - 1/7/2014
• Utility of Genomic Biomarkers in Clinical Medicine. 
  Circa Center, Philadelphia, PA - 1/2/2014
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Other

• Altered Transmembrane Signaling and Responsiveness in "Asthmatic" Sensitized Airway Smooth (Doctoral Thesis); Research and study performed at the University of Pennsyl... 
  Hakonarson H, Medical University of Iceland
  1/1/2002