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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

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.
Pathway-Based Genome-wide Association Studies Reveal That the Rac1 Pathway Is Associated with Plasma Adiponectin Levels.

WD Li et al. Aug 24, 2015. Scientific Reports.
CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations.

R Dajani et al. Aug 21, 2015. Scientific Reports.
The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females.

RC Chiaroni-Clarke et al. Aug 20, 2015. Genes and Immunity.
Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.

JS Barthold et al. Jul 24, 2015. Human Reproduction.
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.

B Almoguera et al. Jul 21, 2015. PLoS One.
Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy.

J Li et al. Jul 17, 2015. Journal of Immunology.
Directional dominance on stature and cognition in diverse human populations.

PK Joshi et al. Jul 01, 2015. Nature.
Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder

F Sun et al. Jun, 2015. AHRQ Comparative Effectiveness Technical Briefs.
Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.

EJ Bhoj et al. Jun 25, 2015. American Journal of Medical Genetics. Part A.
A Trans-ethnic Genome-wide Association Study Identifies Gender Specific Loci Influencing Pediatric aBMD and BMC at the Distal Radius.

A Chesi et al. Jun 03, 2015. Human Molecular Genetics.
Connectome-wide network analysis of youth with Psychosis-Spectrum symptoms.

TD Satterthwaite et al. June 02, 2015. Molecular Psychiatry.
The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.

CM Lill et al. Apr 29, 2015. Alzheimer's & Dementia.

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