HakonHakonarsonMD

Pediatric Pulmonology • Philadelphia, PA

Associate Professor, Pediatrics, Perelman School of Medicine

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Office
Hakon Hakonarson, MD, PhD
Professor of Pediatrics
Philadelphia, PA 19104
Phone+1 267-426-0088

Fax+1 267-426-0363

Education & Training

University of Iceland, School of MedicinePh.D., 2002
Children's Hospital of PhiladelphiaFellowship, Pediatric Pulmonology, 1992 - 1995
University of ConnecticutResidency, Pediatrics, 1988 - 1991
University of IcelandClass of 1986
College of AkureyriBachelors, Biology and Mathematics, 1980
Memphis State UniversityBachelors, Major: Physical Sciences / Pre-Med; Minors in Classical Languages and Philosophy, 0 - 1960

Certifications & Licensure

PA State Medical License 1993 - 2026
CT State Medical License 1991 - 1992
American Board of Pediatrics Pediatric Pulmonology

Awards, Honors, & Recognition

Russell A. Hibbs Award for the Best Clinical Science Presentation Scoliosis Research Society (Dorman/Grant/Hakonarson), 2011
Scripps Genomics Medicine Award: Pioneering Discoveries in Pediatric Genomics 2009
Excellence in Science Award for Pediatric Research University of Iceland School of Medicine, 2002
Molecular Approaches to Pediatric Science-Child Health Research Center Award MAPS-CHRC, 1997
Institutional Developmental Research Award Joseph Stokes, Jr. Research Institute, Children's Hospital of Philadelphia, 1996
Parker B. Francis Science Award 1995
James Kangos Memorial Teaching Award for "Excellence in patient care by a pediatric resident" Hartford Hospital/University of Connecticut, 1992
Outstanding Third Year Resident for Teaching and Role Model University of Connecticut, 1992
Fellow American College of Emergency Physicians
Fellow American College of Physician Executives
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Clinical Trials

Electronic Medical Records and Genomics (eMERGE) Phase III Start of enrollment: 2015 Sep 01
Completed

Publications & Presentations

PubMed

Correspondence on "Weighty matters: Considering the ethics of genetic risk scores for obesity" by C. Houtz.
John J Connolly, Molly Hess, Priyanka Maripuri, Shannon Terek, Jasmine Purcell
Genetics in Medicine. 2025-03-01
The historical background of hereditary cystatin C amyloid angiopathy: Genealogical, pathological, and clinical manifestations.
Asbjorg Osk Snorradottir, Hakon Hakonarson, Astridur Palsdottir
Brain Pathology. 2025-03-01
Copy number variations contribute to malignant tumor development in children with serious birth defects.
Yichuan Liu, Joseph Glessner, Hui-Qi Qu, Xiao Chang, Haijun Qiu
Molecular Oncology. 2025-03-01

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

Press Mentions

CHOP, NJIT Researchers Create Single-Cell Analysis ToolDecember 22nd, 2022
Researchers Create Software That Can Help Detect Genetic-Based DiseasesDecember 22nd, 2022
CHOP and NJIT Researchers Develop New Tool FoDecember 21st, 2022
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