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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.

A Desai et al. Feb 16, 2016. BMC Musculoskeletal Disorders.
Genetic Variation among 82 Pharmacogenes: the PGRN-Seq data from the eMERGE Network.

WS Bush et al. Feb 09, 2016. Clinical Pharmacology and Therapeutics.
Association between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel Disease.

R Prieto-Perez et al. Feb 06, 2016. International Journal of Molecular Sciences.
Genome-wide investigation of schizophrenia associated plasma Ndel1 enzyme activity.

A Gadelha et al. Feb 02, 2016. Schizophrenia Research.
Causal Assessment of Serum Urate Levels in Cardiometabolic Diseases Through a Mendelian Randomization Study.

T Keenan et al. Feb 02, 2016. Journal of the American College of Cardiology.
Common and Dissociable Mechanisms of Executive System Dysfunction Across Psychiatric Disorders in Youth.

S Shanmugan et al. Jan 22, 2016. American Journal of Psychiatry.
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.

I Matera et al. Jan 27, 2016. European Journal of Human Genetics.
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

C Pattaro et al. Jan 21, 2016. Nature Communications.
Application of computational methods in genetic study of inflammatory bowel disease.

J Li et al. Jan 21, 2016. World Journal of Gastroenterology.
Machine learning derived risk prediction of anorexia nervosa.

Y Guo et al. Jan 20, 2016. BMC Medical Genomics.
Biofilter as a Functional Annotation Pipeline for Common and Rare Copy Number Burden.

D Kim et al. 2016. Pacific Symposium on Biocomputing.
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.

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