Associate Professor, Pediatrics, Perelman School of Medicine

Pediatric Pulmonology

Hakon Hakonarson works in the field of Pediatric Pulmonology. He has 9 awards "Russell A. Hibbs Award for the Best Clinical Science Presentation", "Scripps Genomics Medicine Award: Pioneering Discoveries in Pediatric Genomics", "Excellence in Science Award for Pediatric Research", "Molecular Approaches to Pediatric Science-Child Health Research Center Award", "Institutional Developmental Research Award", "Parker B. Francis Science Award", "James Kangos Memorial Teaching Award for "Excellence in patient care by a pediatric resident"", "Outstanding Third Year Resident for Teaching and Role Model" and "Fellow". Hakon Hakonarson is also a published physician. He has 98 publication published. The most recent publication is: Genome-wide investigation of schizophrenia associated plasma Ndel1 enzyme activity.

Publications

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• Causal Assessment of Serum Urate Levels in Cardiometabolic Diseases Through a Mendelian Randomization Study.
• Genome-wide investigation of schizophrenia associated plasma Ndel1 enzyme activity.
• Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.
• Psychiatric gene discoveries shape evidence on ADHD's biology.
• Progress in Understanding Type 1 Diabetes Through Its Genetic Overlap with Other Autoimmune Diseases.
• Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism.
• The genetic basis of eosinophilic esophagitis.
• Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.
• The impact of quality assurance assessment on diffusion tensor imaging outcomes in a large-scale population-based cohort.
• Functional Neuroimaging Abnormalities in Youth With Psychosis Spectrum Symptoms.
• Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.
• Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States.
• Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions.
• The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: Insights into pathogenesis.
• Common Genetic Variants in NEFL Influence Gene Expression and Neuroblastoma Risk.
• Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
• Dynamic bayesian testing of sets of variants in complex diseases.
• Modulatory effects of TAOK3 variants on morphine requirement in acute postoperative pain: An early genome wide association study contribution to the field of pediatric...
• Etiology of autism spectrum disorder: a genomics perspective.
• Src kinase as a mediator of convergent molecular abnormalities leading to NMDAR hypoactivity in schizophrenia.
• The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort.
• Phenotype-specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.
• A genome-wide association study of anorexia nervosa.
• Effects of Multiple Genetic Loci on Age at Onset in Late-Onset Alzheimer Disease: A Genome-Wide Association Study.
• Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming.
• Within-individual variability in neurocognitive performance: Age- and sex-related differences in children and youths from ages 8 to 21.
• Burden of copy number variation in common variable immunodeficiency.
• The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort.
• TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population.
• The diabetes susceptibility gene clec16a regulates mitophagy.
• Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
• Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission.
• Patient Genotypes Impact Survival After Surgery for Isolated Congenital Heart Disease.
• Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
• Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.
• Sex differences in the effect of puberty on hippocampal morphology.
• Genome-Wide Copy Number Analysis in a Family with p.G533C RET Mutation and Medullary Thyroid Carcinoma Identified Regions Potentially Associated with a Higher Predispo...
• Comprehensive Analysis of Gene Expression in Human Retina and Supporting Tissues.
• Causal effects of body mass index on cardiometabolic traits and events: a mendelian randomization analysis.
• Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
• AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
• Neurocognitive Growth Charting in Psychosis Spectrum Youths.
• Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci.
• Sex differences in the structural connectome of the human brain.
• DENND1B gene variants associate with elevated exhaled nitric oxide in healthy high-risk neonates.
• Thymic stromal lymphopoietin-mediated extramedullary hematopoiesis promotes allergic inflammation.
• Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation.
• A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.
• GATA factors promote ER integrity, β-cell survival, and contribute to type 1 diabetes risk.
• Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
• Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes.
• Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia.
• Impact of exome sequencing in inflammatory bowel disease.
• Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
• Gene Expression and Genetic Variation in Human Atria.
• Functional maturation of the executive system during adolescence.
• Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
• Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy-Genotypic Overlap with Pseudoxanthoma Elasticum.
• PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.
• Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype...
• Practical challenges in integrating genomic data into the electronic health record.
• Thymic stromal lymphopoietin-elicited basophil responses promote eosinophilic esophagitis.
• Targeted resequencing identifies defective variants of decoy receptor 3 in pediatric-onset inflammatory bowel disease.
• Neuroimaging of the Philadelphia Neurodevelopmental Cohort.
• Incidental Findings in Youths Volunteering for Brain MRI Research.
• Heterogeneous impact of motion on fundamental patterns of developmental changes in functional connectivity during youth.
• The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future.
• De novo mutations in histone-modifying genes in congenital heart disease.
• Large Sample Size, Wide Variant Spectrum, and Advanced Machine-Learning Technique Boost Risk Prediction for Inflammatory Bowel Disease.
• The Prevalence of 16p12.1 Microdeletion in Patients with Left-sided Cardiac Lesions.
• Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis.
• High rate of disease-related copy number variations in childhood onset schizophrenia.
• GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
• Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-?B pathway gene, HEATR3.
• A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.
• Ask the Experts: Pharmacogenomics and genome-wide association studies.
• Copy number variations in alternative splicing gene networks impact lifespan.
• Loci influencing blood pressure identified using a cardiovascular gene-centric array.
• Obesity-susceptibility loci and the tails of the pediatric BMI distribution.
• APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
• Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.
• Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus.
• A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.
• An improved framework for confound regression and filtering for control of motion artifact in the preprocessing of resting-state functional connectivity data.
• ParseCNV integrative copy number variation association software with quality tracking.
• Evidence from Human and Zebrafish that GPC1 is a Biliary Atresia Susceptibility Gene.
• The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.
• Gene-centric meta-analysis of lipid traits in african, East asian and Hispanic populations.
• Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.
• Mucosal plasma cell barrier disruption during intestine transplant rejection.
• Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
• Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.
• A Genome-Wide Association Study of Autism Incorporating Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, and Social Responsiveness Scale.
• Case-control association analysis of polymorphisms in the delta-opioid receptor, OPRD1, with cocaine and opioid addicted populations.
• Two-Stage Extreme Phenotype Sequencing Design for Discovering and Testing Common and Rare Genetic Variants: Efficiency and Power.
• Role of Cytokines in Systemic Lupus Erythematosus: Recent Progress from GWAS and Sequencing.
• A genome-wide association meta-analysis identifies new childhood obesity loci.

Conditions Treated

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• Sleep Apnea

Doctors Specialties

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• Pediatric Pulmonology

Accepted Insurances

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Awards

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• Russell A. Hibbs Award for the Best Clinical Science Presentation
• Scripps Genomics Medicine Award: Pioneering Discoveries in Pediatric Genomics
• Excellence in Science Award for Pediatric Research
• Molecular Approaches to Pediatric Science-Child Health Research Center Award
• Institutional Developmental Research Award
• Parker B. Francis Science Award
• James Kangos Memorial Teaching Award for "Excellence in patient care by a pediatric resident"
• Outstanding Third Year Resident for Teaching and Role Model
• Fellow

Education

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• Children's Hospital of Philadelphia
• University of Iceland

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