Hakon Hakonarson

发表

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

Kai Wang, Li Fang, Charlly Kao, 2019, Nature Communications.

tRNA-DL: A Deep Learning Approach to Improve tRNAscan-SE Prediction Results

Zhi Wei, Hakon Hakonarson, Xin Gao, 2018, Human Heredity.

DeepPolyA: A Convolutional Neural Network Approach for Polyadenylation Site Prediction

Zhi Wei, Jie Zhang, Hakon Hakonarson, 2018, IEEE Access.

Novel gene discovery across a large cohort of patients with syndromic craniofacial anomalies

Li Dong, Hakon Hakonarson, J BhojElizabeth, 2016 .

Phasing of many thousands of genotyped samples.

David Reich, Nick Patterson, Joseph T. Glessner, 2012, American journal of human genetics.

Systematic review and meta-analysis of the association between {beta}2-adrenoceptor polymorphisms and asthma: a HuGE review.

Ammarin Thakkinstian, John Attia, Mark McEvoy, 2005, American journal of epidemiology.

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts

David R. Crosslin, Gail P. Jarvik, Berta Almoguera, 2014, Front. Genet..

Abstract 5353: High-throughput automation of the 10x Genomics® Chromium™ workflow for linked-read whole exome sequencing and a targeted lynch syndrome panel

Andrew Price, Charlly Kao, Hakon Hakonarson, 2017 .

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel

Alexander Fedotov, Simon White, Eric Boerwinkle, 2018, Genetics in Medicine.

Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions

George Hripcsak, Chunhua Weng, Jennifer A. Pacheco, 2021, BMC Medical Informatics and Decision Making.

DeepCNV: a deep learning approach for authenticating copy number variations

Xiurui Hou, Jie Zhang, Peter Krawitz, 2021, Briefings Bioinform..

Performance of model-based multifactor dimensionality reduction methods for epistasis detection by controlling population structure

Kristel Van Steen, Fentaw Abegaz, François Van Lishout, 2021, BioData Min..

Identification of common variants influencing risk of the tauopathy Progressive Supranuclear Palsy

Andrew J. Lees, Allissa Dillman, Li-San Wang, 2011, Nature Genetics.

The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort

Kosha Ruparel, Benjamin M. Neale, Jian Yang, 2014, Molecular Psychiatry.

Structural variations in attention-deficit hyperactivity disorder

Hakon Hakonarson, Peter S White, H. Hakonarson, 2011, The Lancet.

Rare genomic deletions and duplications and their role in neurodevelopmental disorders.

John J. Connolly, Joseph T. Glessner, Hakon Hakonarson, 2012, Current topics in behavioral neurosciences.

META-ANALYSIS OF GENOME-WIDE ASSOCIATION STUDIES IDENTIFIES THREE NEW RISK LOCI FOR ATOPIC DERMATITIS

Christian Gieger, Nicholas J Timpson, Manuel A. R. Ferreira, 2011, Nature Genetics.

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Eden R Martin, Seth Love, Brian Lawlor, 2019, Nature Genetics.

Strong synaptic transmission impact by copy number variations in schizophrenia

Raquel E. Gur, Mark Weiser, Muredach P. Reilly, 2010, Proceedings of the National Academy of Sciences.

Common genetic variants on 5p14.1 associate with autism spectrum disorders

Robert T. Schultz, Margaret A. Pericak-Vance, Takeshi Sakurai, 2009, Nature.

Role of BMI‐Associated Loci Identified in GWAS Meta‐Analyses in the Context of Common Childhood Obesity in European Americans

Joseph T. Glessner, Hakon Hakonarson, J. Glessner, 2011, Obesity.

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency

Mark Yandell, Jinchuan Xing, Leslie G Biesecker, 2011, Genome Biology.

Copy Number Variations in Alternative Splicing Gene Networks Impact Lifespan

Vilmundur Gudnason, Lenore J. Launer, Tamara B. Harris, 2013, PloS one.

Identification of Four Novel Loci in Asthma in European American and African American Populations

Peggy L. Peissig, Jennifer A. Pacheco, Iftikhar J. Kullo, 2017, American journal of respiratory and critical care medicine.

Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.

Susanne Walitza, Aribert Rothenberger, Stephan Ripke, 2010, Journal of the American Academy of Child and Adolescent Psychiatry.

Examination of Type 2 Diabetes Loci Implicates CDKAL1 as a Birth Weight Gene

Joseph T. Glessner, Hakon Hakonarson, Patrick Sleiman, 2009, Diabetes.

Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer

Nandita Mitra, Muredach P Reilly, Andrew K Godwin, 2009, Nature Genetics.

The Impact of Genomics on Pediatric Research and Medicine

John J. Connolly, Hakon Hakonarson, John J Connolly, 2012, Pediatrics.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Yiran Guo, Dong Li, Hakon Hakonarson, 2013, American journal of human genetics.

Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism

Andrew C. Wood, Nazneen Rahman, Sharon J. Diskin, 2015, Nature.

Imaging patterns of brain development and their relationship to cognition.

Christos Davatzikos, Theodore D Satterthwaite, Raquel E Gur, 2015, Cerebral cortex.

Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder

Laura J. Scott, Naomi R. Wray, Margaret A. Pericak-Vance, 2015, American journal of human genetics.

The landscape of recombination in African Americans

Xiaofeng Zhu, Alex P. Reiner, Jasmin Divers, 2011, Nature.

Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy.

Marc A. Attiyeh, Sharon J. Diskin, John M. Maris, 2008, Genome research.

Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight

Philippe Froguel, Nicholas J Timpson, Dirkje S Postma, 2010, Nature Genetics.

Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

Robert C. Green, Andrew J. Saykin, Liana G. Apostolova, 2012, Nature Genetics.

Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene.

Ingo Ruczinski, Christoph Lange, James W Baurley, 2009, American journal of human genetics.

Src kinase as a mediator of convergent molecular abnormalities leading to NMDAR hypoactivity in schizophrenia

Raquel E. Gur, Xiao Chang, Steven E. Arnold, 2014, Molecular Psychiatry.

Network-based multiple sclerosis pathway analysis with GWAS data from 15,000 cases and 30,000 controls.

Sandra D'Alfonso, Hanne F. Harbo, Bernhard Hemmer, 2013, American journal of human genetics.

Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study

Robert C. Green, Andrew J. Saykin, Liana G. Apostolova, 2020, Nature Communications.

Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.

Yiran Guo, Hakon Hakonarson, H. Hakonarson, 2013, Human molecular genetics.

Copy number variation on chromosome 10q26.3 for obesity identified by a genome-wide study.

Yan Guo, Tie-Lin Yang, Hui Shen, 2013, The Journal of clinical endocrinology and metabolism.

Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies

Mark I. McCarthy, Deborah A. Nickerson, Xiaowu Gai, 2008, PloS one.

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

Tariq Ahmad, Katherine I. Morley, Vibeke Andersen, 2011, Nature Genetics.

A Meta-Analysis Identifies New Loci Associated with Body Mass index in Individuals of African Ancestry

Xiaofeng Zhu, Olufunmilayo I. Olopade, Alex P. Reiner, 2013, Nature Genetics.

Discovery of the first genome-wide significant risk loci for ADHD

Jakob Grove, Esben Agerbo, Anders D. Børglum, 2017, bioRxiv.

A genome-wide study reveals copy number variants exclusive to childhood obesity cases.

Hakon Hakonarson, Cuiping Hou, J. Glessner, 2010, American journal of human genetics.

Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects.

Constantin Polychronakos, David C Wilson, Joseph T. Glessner, 2010, Human molecular genetics.

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

Olli Simell, Mark I. McCarthy, Karen L. Mohlke, 2012, Nature Genetics.

ParseCNV integrative copy number variation association software with quality tracking

Joseph T. Glessner, Hakon Hakonarson, J. Glessner, 2013, Nucleic acids research.

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

Constantin Polychronakos, Yiran Guo, Dong Li, 2016 .

Age group and sex differences in performance on a computerized neurocognitive battery in children age 8-21.

Raquel E Gur, Ruben C Gur, James Loughead, 2012, Neuropsychology.

Neurocognitive growth charting in psychosis spectrum youths.

Kosha Ruparel, Theodore D Satterthwaite, Tyler M Moore, 2014, JAMA psychiatry.

Identification of ALK as a major familial neuroblastoma predisposition gene

John M. Maris, Nicholas J. Schork, Ali Torkamani, 2008, Nature.

The Genetics of Autism Spectrum Disorders

John J. Connolly, Hakon Hakonarson, H. Hakonarson, 2011 .

A Novel Susceptibility Locus for Type 1 Diabetes on Chr12q13 Identified by a Genome-Wide Association Study

Constantin Polychronakos, Luc Marchand, Margaret L. Lawson, 2008, Diabetes.

Erratum: Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci (American Journal of Human Genetics (2012) 90 (410-425))

Suzette J. Bielinski, Christian Gieger, Ingo Ruczinski, 2012 .

Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.

Dong Li, Hakon Hakonarson, Cuiping Hou, 2014, The Journal of clinical endocrinology and metabolism.

Are genetic tests informative in predicting food allergy?

Hakon Hakonarson, H. Hakonarson, Jin Li, 2016, Current opinion in allergy and clinical immunology.

Common variants at 12q15 and 12q24 are associated with infant head circumference

Aad van der Lugt, Xavier Estivill, Sudha Seshadri, 2013, Nature Genetics.

Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

John A. Sweeney, Geraldine Dawson, Daniel H. Geschwind, 2009, PLoS genetics.

A Genome-Wide Association Study on Obesity and Obesity-Related Traits

Hongyu Zhao, Struan F. A. Grant, Joseph T. Glessner, 2011, PloS one.

Rare Variants Create Synthetic Genome-Wide Associations

David B. Goldstein, Samuel P. Dickson, Hakon Hakonarson, 2010, PLoS biology.

Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci.

Christian Gieger, Xiaofeng Zhu, Tom R. Gaunt, 2014, American journal of human genetics.

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

Yufeng Shen, Boris Yamrom, Jeremy Leipzig, 2014, Circulation research.

Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study

Tariq Ahmad, Judy H Cho, Vibeke Andersen, 2016, The Lancet.

PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study

Hynek Pikhart, Fernando Pires Hartwig, Joshua C Denny, 2017, The lancet. Diabetes & endocrinology.

Erratum: Common variants at 6q22 and 17q21 are associated with intracranial volume (Nature Genetics (2012) 44 (539-544))

Wiro J. Niessen, Aad van der Lugt, Mark I. McCarthy, 2013 .

Convergent mechanisms of somatic mutations in polycythemia vera.

Hakon Hakonarson, H. Hakonarson, Kai Wang, 2010, Discovery medicine.

Sex differences in the effect of puberty on hippocampal morphology.

Christos Davatzikos, Kosha Ruparel, Theodore D Satterthwaite, 2014, Journal of the American Academy of Child and Adolescent Psychiatry.

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications.

Jianxin Shi, Pablo V Gejman, Frank Dudbridge, 2011, The American journal of psychiatry.

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population

Christiana Kartsonaki, Mads Thomassen, Julian Peto, 2010, Nature Genetics.

A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction

Vilmundur Gudnason, Kari Stefansson, Arshed A Quyyumi, 2006, Nature Genetics.

Psychometric properties of the Penn Computerized Neurocognitive Battery.

Steven P Reise, Tyler M Moore, Raquel E Gur, 2015, Neuropsychology.

Functional Maturation of the Executive System during Adolescence

Christos Davatzikos, Ragini Verma, Kosha Ruparel, 2013, The Journal of Neuroscience.

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.

Laura K Conlin, Livija Medne, Hakon Hakonarson, 2010, Human molecular genetics.

Directional dominance on stature and cognition in diverse human populations

Laura J. Scott, Claude Bouchard, Christian Gieger, 2015, Nature.

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

Nazneen Rahman, Sharon J. Diskin, John M. Maris, 2011, Nature.

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

Susanne Walitza, Aribert Rothenberger, Takeshi Sakurai, 2011, Nature Genetics.

Practical challenges in integrating genomic data into the electronic health record

Abel N. Kho, Peggy L. Peissig, Justin Starren, 2013, Genetics in Medicine.

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.

Ying Liu, Wei Wang, Mark Yandell, 2011, Discovery medicine.

Genome-wide association studies in type 1 diabetes

Hakon Hakonarson, H. Hakonarson, S. Grant, 2009, Current diabetes reports.

Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming

Vincent Procaccio, Martin Picard, Shawn Levy, 2014, Proceedings of the National Academy of Sciences.

Machine learning derived risk prediction of anorexia nervosa

Yiran Guo, Brendan J. Keating, Hakon Hakonarson, 2015, BMC Medical Genomics.

The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort

Kosha Ruparel, Theodore D Satterthwaite, Tyler M Moore, 2014, World psychiatry : official journal of the World Psychiatric Association.

Genome-wide association study of multiplex schizophrenia pedigrees.

Jianxin Shi, Stephan Ripke, Pablo V Gejman, 2012, The American journal of psychiatry.

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Jianxin Shi, Susmita Datta, Aribert Rothenberger, 2013, Nature Genetics.

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

Nazneen Rahman, Sharon J. Diskin, John M. Maris, 2009, Nature Genetics.

Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight.

Tom M Palmer, Debbie A Lawlor, Marie-France Hivert, 2016, JAMA.

Practical considerations in genomic decision support: The eMERGE experience

Keith Marsolo, Suzette J. Bielinski, Gerard Tromp, 2015, Journal of pathology informatics.

Comorbidity of Physical and Mental Disorders in the Neurodevelopmental Genomics Cohort Study

Kosha Ruparel, Ruben C. Gur, Raquel E. Gur, 2015, Pediatrics.

Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation

Derek J Van Booven, Muredach P Reilly, Hakon Hakonarson, 2011, Proceedings of the National Academy of Sciences.

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

Xiaowu Gai, Joseph T. Glessner, Hakon Hakonarson, 2011, Congenital heart disease.

Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies

Marylyn D. Ritchie, Shefali S. Verma, Kelly A. Birdwell, 2015, Genome Medicine.

Comprehensive analysis of gene expression in human retina and supporting tissues

Hakon Hakonarson, Christine A Curcio, Lifeng Tian, 2014, Human molecular genetics.

The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative.

Kosha Ruparel, Theodore D Satterthwaite, David R Roalf, 2015, Journal of child psychology and psychiatry, and allied disciplines.

A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations

Thomas Blicher, David Torrents, Adnan Custovic, 2013, Nature Genetics.

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

Tom R. Gaunt, Fotios Drenos, Meena Kumari, 2012, American journal of human genetics.

Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia

Li-San Wang, Hakon Hakonarson, Maja Bucan, 2010, BMC Medical Genetics.

Structural Brain Abnormalities in Youth With Psychosis Spectrum Symptoms.

Christos Davatzikos, Kosha Ruparel, Theodore D Satterthwaite, 2016, JAMA psychiatry.

Modeling genetic inheritance of copy number variations

Mahlet G. Tadesse, Struan F. A. Grant, Joseph T. Glessner, 2008, Nucleic acids research.

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

Tariq Ahmad, Albert Cohen, Judy H Cho, 2010, Nature Genetics.

Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.

Hakon Hakonarson, J. Glessner, H. Hakonarson, 2008, Arthritis and rheumatism.

A genome-wide association meta-analysis identifies new childhood obesity loci

Inês Barroso, Mark I. McCarthy, Philippe Froguel, 2012, Nature Genetics.

Whole-genome sequencing in an autism multiplex family

Gholson J Lyon, Hakon Hakonarson, Cuiping Hou, 2013, Molecular Autism.

A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci

Constantin Polychronakos, Struan F. A. Grant, Joseph T. Glessner, 2011, PLoS genetics.

A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci

Jennifer Mulle, Nir Giladi, Karen Marder, 2012, PLoS genetics.

Ranking causal variants and associated regions in genome-wide association studies by the support vector machine and random forest

Satish Chikkagoudar, Hakon Hakonarson, Usman Roshan, 2011, Nucleic acids research.

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

Thomas Bourgeron, Ellen M. Wijsman, Gillian Baird, 2014, Nature Communications.

Interpretation of association signals and identification of causal variants from genome-wide association studies.

Samuel P. Dickson, Hakon Hakonarson, David B Goldstein, 2010, American journal of human genetics.

Genome-wide association studies in type 1 diabetes, inflammatory bowel disease and other immune-mediated disorders.

Hakon Hakonarson, H. Hakonarson, S. Grant, 2009, Seminars in immunology.

Common variants at 6q22 and 17q21 are associated with intracranial volume

Wiro J Niessen, Clifford R Jack, Reinhold Schmidt, 2012, Nature Genetics.

Copy number variation at 1q21.1 associated with neuroblastoma

Sharon J. Diskin, John M. Maris, Struan F. A. Grant, 2009, Nature.

Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells

Christian Gieger, Torsten Witte, Bodo Grimbacher, 2015, Nature Communications.

Falk Symposium Series

Claudio Fiocchi, Peter L. Lakatos, Ashwin N. Ananthakrishnan, 2009, Digestive Diseases.

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Xiaowu Gai, Laura K Conlin, Livija Medne, 2009, Genome research.

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

Sharon J. Diskin, John M. Maris, Joseph T. Glessner, 2008, Nucleic acids research.

Common Variants in HSPB7 and FRMD4B Associated With Advanced Heart Failure

Joseph T. Glessner, Hakon Hakonarson, Liming Qu, 2010, Circulation. Cardiovascular genetics.

Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array

Tom R. Gaunt, Shah Ebrahim, Jie Zheng, 2015, European Journal of Human Genetics.

THE CHILDREN'S HOSPITAL OF PHILADELPHIA.

Hakon Hakonarson, H. Hakonarson, 1955, British medical journal.

Common variants at 12q15 and 12q24 are associated with infant head circumference

Aad van der Lugt, Xavier Estivill, Sudha Seshadri, 2012, Nature Genetics.

Common variants at 6q22 and 17q21 are associated with intracranial volume

Reinhold Schmidt, Stefan Ropele, Sudha Seshadri, 2013, Nature Genetics.

Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.

Nicholas J Timpson, Clive Osmond, Mark I McCarthy, 2013, Human molecular genetics.

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

Laura J. Scott, Naomi R. Wray, Margaret A. Pericak-Vance, 2015, Nature Neuroscience.

GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

Yiran Guo, Joseph T. Glessner, Hakon Hakonarson, 2013, Human molecular genetics.

deCODE genetics, Inc.

Kari Stefansson, Hakon Hakonarson, Jeffrey R Gulcher, 2003, Pharmacogenomics.

A Genome-Wide Association Study Identifies LIPA as a Susceptibility Gene for Coronary Artery Disease

Olli Saarela, Frank Kee, Kaisa Silander, 2011, Circulation. Cardiovascular genetics.

Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.

Nazneen Rahman, Joseph T. Glessner, Hakon Hakonarson, 2008, The New England journal of medicine.

Genetic sharing and heritability of paediatric age of onset autoimmune diseases

Hongzhe Li, Constantin Polychronakos, Yiran Guo, 2015, Nature Communications.

Association Analysis of the FTO Gene with Obesity in Children of Caucasian and African Ancestry Reveals a Common Tagging SNP

Struan F. A. Grant, Joseph T. Glessner, Hakon Hakonarson, 2008, PloS one.

Functional neuroimaging abnormalities in youth with psychosis spectrum symptoms.

Kosha Ruparel, Theodore D Satterthwaite, Mark A Elliott, 2015, JAMA psychiatry.

De novo mutations in histone modifying genes in congenital heart disease

Murim Choi, Hongyu Zhao, Alexander E. Lopez, 2013, Nature.

Variants of DENND1B associated with asthma in children.

Ingo Ruczinski, James Flory, Terri H Beaty, 2010, The New England journal of medicine.

Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder

Finale Doshi-Velez, Pei Chen, Joseph Bochenek, 2016, PloS one.

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Robert T. Schultz, Takeshi Sakurai, Joseph Piven, 2009, Nature.

Association Analysis of Type 2 Diabetes Loci in Type 1 Diabetes

Constantin Polychronakos, Hakon Hakonarson, Cecilia Kim, 2008, Diabetes.

A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.

Joseph T. Glessner, Hakon Hakonarson, J. Glessner, 2009, The Journal of pediatrics.

Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum

Joseph T. Glessner, Hakon Hakonarson, Francesca Lantieri, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population.

Joseph T. Glessner, Hakon Hakonarson, Jean Golding, 2010, The American journal of psychiatry.

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.

Michael J Ackerman, Joshua C Denny, Dan M Roden, 2016, JAMA.

Individual common variants exert weak effects on the risk for autism spectrum disorders

Margaret A. Pericak-Vance, Kathryn Roeder, Thomas Bourgeron, 2012, Human molecular genetics.

Erratum: Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy (Genome Research (2009) 19 (276-283))

Marc A. Attiyeh, Sharon J. Diskin, John M. Maris, 2009 .

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Christian Gieger, Norman Delanty, Ellen Campbell, 2018, Nature Communications.

Recent development in pharmacogenomics: from candidate genes to genome-wide association studies

Hakon Hakonarson, H. Hakonarson, S. Grant, 2007, Expert review of molecular diagnostics.

Duplication of the SLIT3 Locus on 5q35.1 Predisposes to Major Depressive Disorder

Struan F. A. Grant, Joseph T. Glessner, Hakon Hakonarson, 2010, PloS one.

Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease

Joseph T. Glessner, Hakon Hakonarson, Ryan M. Smith, 2008, Nature Genetics.

Large Copy-Number Variations Are Enriched in Cases With Moderate to Extreme Obesity

Joseph T. Glessner, Hakon Hakonarson, J. Glessner, 2010, Diabetes.

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.

Christian Gieger, Ingo Ruczinski, Tom R. Gaunt, 2012, American journal of human genetics.

HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials

Hynek Pikhart, Bengt Sennblad, Tom R. Gaunt, 2015, The Lancet.

Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy

Joseph T. Glessner, Frank D. Mentch, Hakon Hakonarson, 2015, The Journal of Immunology.

Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data

Hynek Pikhart, Tom R. Gaunt, Meena Kumari, 2014, BMJ : British Medical Journal.

APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study

Michael W. Weiner, Robert C. Green, Shannon L. Risacher, 2013, Molecular Psychiatry.

Common variants at five new loci associated with early-onset inflammatory bowel disease

Johan Van Limbergen, David C Wilson, David C. Wilson, 2009, Nature Genetics.

A genome-wide scan for common alleles affecting risk for autism

Margaret A. Pericak-Vance, Kathryn Roeder, Thomas Bourgeron, 2010, Human molecular genetics.

A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls

Hongyu Zhao, Joseph T. Glessner, Hakon Hakonarson, 2013, Obesity.

Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3

Susanne Walitza, Herbert Roeyers, Peter Holmans, 2012, The American journal of psychiatry.

Within-individual variability in neurocognitive performance: age- and sex-related differences in children and youths from ages 8 to 21.

Kosha Ruparel, Theodore D Satterthwaite, David R Roalf, 2014, Neuropsychology.