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Author Details

John J Connolly
Center for Applied Genomics, Children's Hospital of Philadelphia
2012
81
23
PMIDPaper TitleJournal TitlePublished Year
37989391High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations.Transl Res2024
37860921Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study.J Am Med Inform Assoc2024
36672883Single Cell Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Freshly Isolated versus Stored Blood Samples.Genes (Basel)2023
37898691Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.Sci Rep2023
37700208The Circassians and the Chechens in Jordan: results of a decade of epidemiological and genetic studies.J Community Genet2023
37883979Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.Am J Hum Genet2023
37968452Author Correction: Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.Sci Rep2023
37120522Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders.J Neurodev Disord2023
37450379Trans-ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium study.Alzheimers Dement2023
37343562Studying the impact of translational genomic research: Lessons from eMERGE.Am J Hum Genet2023
37246632Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores.Genet Med2023
36621880Returning integrated genomic risk and clinical recommendations: The eMERGE study.Genet Med2023
36712066Trans-ethnic Polygenic Risk Scores for Body Mass Index: An International Hundred K+ Cohorts Consortium Study.medRxiv2023
35203474Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries.Biomedicines2022
35347896Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis.Arthritis Rheumatol2022
35595084Multiancestral polygenic risk score for pediatric asthma.J Allergy Clin Immunol2022
35590255Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach.BMC Genomics2022
35811841Metabolomic profiling of samples from pediatric patients with asthma unveils deficient nutrients in African Americans.iScience2022
36459297Metabolomic profiling for dyslipidemia in pediatric patients with sickle cell disease, on behalf of the IHCC consortium.Metabolomics2022
36422086Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research.J Pers Med2022
36556166Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children.J Pers Med2022
36372681Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics.Obesity (Silver Spring)2022
35943490Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.Genet Med2022
34997821Improved genetic risk scoring algorithm for type 1 diabetes prediction.Pediatr Diabetes2022
33407432Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort.BMC Med Genomics2021
33930535Genomic considerations for FHIR®; eMERGE implementation lessons.J Biomed Inform2021
34302048Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci.Commun Biol2021
34180972Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients.JAMA Intern Med2021
34065005Preferences for Updates on General Research Results: A Survey of Participants in Genomic Research from Two Institutions.J Pers Med2021
34362956Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients.Sci Rep2021
33979874Infobuttons for Genomic Medicine: Requirements and Barriers.Appl Clin Inform2021
33951936Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network.Circ Heart Fail2021
33950547Combined application of genetic and polygenic risk scores for type 1 diabetes risk prediction.Diabetes Obes Metab2021
31447229CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease.Int J Cardiol2020
31937769Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.Nat Commun2020
32669677Participant choices for return of genomic results in the eMERGE Network.Genet Med2020
30414857Novel locus for atopic dermatitis in African Americans and replication in European Americans.J Allergy Clin Immunol2019
31311600GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.BMC Med2019
30890783Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.Genet Med2019
30590688Enrichment sampling for a multi-site patient survey using electronic health records and census data.J Am Med Inform Assoc2019
29301385Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience.J Pers Med2018
30011878Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs.Healthcare (Basel)2018
30334910Leveraging electronic health records to assess the role of ADRB2 single nucleotide polymorphisms in predicting exacerbation frequency in asthma patients.Pharmacogenet Genomics2018
27611488Identification of Four Novel Loci in Asthma in European American and African American Populations.Am J Respir Crit Care Med2017
28190457Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US.Am J Hum Genet2017
28827695Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.Sci Rep2017
28639489Healthcare provider education to support integration of pharmacogenomics in practice: the eMERGE Network experience.Pharmacogenomics2017
28630421A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.Sci Rep2017
25840117The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth.Neuroimage2016
27881091Conducting a large, multi-site survey about patients' views on broad consent: challenges and solutions.BMC Med Res Methodol2016
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Collaborators

Hakon Hakonarson
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 63
Patrick M A Sleiman
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 31
Frank D Mentch
Center for Applied Genomics (CAG), Children's Hospital of Philadelphia
Co-authored papers 30
Gail P Jarvik
University of Washington Medical Center
Co-authored papers 27
Joseph T Glessner
Co-authored papers 24
Iftikhar J Kullo
Mayo Clinic
Co-authored papers 21
Ingrid A Holm
Harvard Medical School
Co-authored papers 20
David R Crosslin
University of Washington Medical Center
Co-authored papers 17
Maureen E Smith
Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University
Co-authored papers 15
Joshua C Denny
Vanderbilt University
Co-authored papers 15
Marc S Williams
University of Washington Medical Center
Co-authored papers 14
Eric B Larson
University of Washington
Co-authored papers 12
Rosetta M Chiavacci
Co-authored papers 12
David S Carrell
Kaiser Permanente Washington Health Research Institute
Co-authored papers 12
Jonathan P Bradfield
Co-authored papers 12
Cynthia A Prows
Cincinnati Children's Hospital Medical Center
Co-authored papers 11
Michael E March
Co-authored papers 11
Berta Almoguera
Center for Biomedical Research in Rare Diseases Network
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Jin Li
Co-authored papers 10
Marylyn D Ritchie
Center for Systems Genomics, Pennsylvania State University, University Park
Co-authored papers 10
Brendan J Keating
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 9
Margaret Harr
Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 9
Cecilia E Kim
Co-authored papers 9
Catherine A McCarty
University of Minnesota Medical School, 1035 University Drive duluth
Co-authored papers 9
Rongling Li
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 9
Luke V Rasmussen
Northwestern University Feinberg School of Medicine
Co-authored papers 9
Fengxiang Wang
Co-authored papers 9
Josh F Peterson
Vanderbilt University Medical Center
Co-authored papers 8
Murray H Brilliant
Marshfield Clinic Research Institute
Co-authored papers 8
E Clayton
Harvard Medical School, Vanderbilt University, Yale University Yale Law School
Co-authored papers 8
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