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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Progress in Understanding Type 1 Diabetes Through Its Genetic Overlap with Other Autoimmune Diseases.

JD Roizen, JP Bradfield & H Hakonarson. Nov 15, 2015. Current Diabetes Reports.
Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.

Y Liu et al. Nov 11, 2015. Human Genomics.
Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism.

DA Oldridge et al. Nov 11, 2015. Nature.
Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival.

DS Kim et al. Nov 10, 2015. The Journal of Thoracic and Cardiovascular Surgery.
Meta-analysis identifies seven susceptibility loci involved in the atopic march.

I Marenholz et al. Nov 6, 2015. Nature Communications.
The genetic basis of eosinophilic esophagitis.

PM Sleiman et al. Oct 29, 2015. Best Practice & Research. Clinical Gastroenterology.
The Impact of Quality Assurance Assessment on Diffusion Tensor Imaging Outcomes in a Large-Scale Population-Based Cohort.

DR Roalf et al. Oct 28, 2015. Neuroimage.
Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.

L Paternoster et al. Oct 19, 2015. Nature Genetics.
Aortic coarctation and carotid artery aneurysm in a patient with hardikar syndrome: Cardiovascular implications for affected individuals.

KM Ryan et al. Oct 15, 2015. American Journal of Medical Genetics A.
Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.

I Cleynen et al. Oct 16, 2015. Lancet.
Bayesian integration of genetics and epigenetics detects causal regulatory SNPs underlying expression variability.

A Das et al. Oct 12, 2015. Nature Communications.
Genetic sharing and heritability of paediatric age of onset autoimmune diseases.

YR Li et al. Oct 09, 2015. Nature Communications.
Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies.

YR Li et al. Oct 01, 2015. Genome Medicine.
Design and Implementation of the International Genetics and Translational Research in Transplantation Network.

BJ Keating et al. Sep 30, 2015. Transplantation.
Candidate Loci are Revealed by an Initial Genome-wide Association Study of Juvenile Osteochondritis Dissecans.

JL Yellin et al. Sep 28, 2015. Journal of Pediatric Orthopedics.
Practical considerations in genomic decision support: The eMERGE experience.

TM Herr et al. Sep 28 2015. The Journal of Pathology Informatics.
The Role of ARF6 in Biliary Atresia.

M Ningappa et al. Sep 17, 2015. PLoS One.
ADHD & Pharmacotherapy: Past, Present and Future: A Review of the Changing Landscape of Drug Therapy for Attention Deficit Hyperactivity Disorder.

JJ Connolly et al. Sep, 2015. Therapeutic Innovation and Regulatory Science.
Pathway-Based Genome-Wide Association Studies for Plasma Triglycerides in Obese Females and Normal-Weight Controls.

H Jiao et al. Aug 26, 2015. PLoS One.
Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

YR Li et al. Aug 24, 2015. Nature Medicine.

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