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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.

TL Wenger et al. Jan 19, 2016. Scientific Reports.
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.

SL Van Driest et al. Jan 5, 2015. JAMA.
Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children.

X Chang et al. Dec 21, 2015. Scientific Reports.
Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR).

R De et al. Dec 14, 2015. Biodata mining.
Enhanced B Cell Alloantigen Presentation and Its Epigenetic Dysregulation in Liver Transplant Rejection.

M Ningappa et al. Dec 11, 2015. American Journal of Transplantation.
Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.

JF Felix et al. Nov 24, 2015. Human Molecular Genetics.
HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.

MJ Ombrello et al. Nov 23, 2015. Proceedings of the National Academy of Sciences USA.
Psychiatric gene discoveries shape evidence on ADHD's biology.

A Thapar et al. Nov 17, 2015. Molecular Psychiatry.
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.

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