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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

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.
Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.

S Rodriguez et al. Apr 29, 2015. European Journal of Human Genetics.
Stress and Bronchodilator Response in Children with Asthma.

JM Brehm et al. Apr 28, 2015. American Journal of Respiratory and Critical Care Medicine.
Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells.

J Li et al. Apr 20, 2015. Nature Communication.
Genome-wide association study of serum minerals levels in children of different ethnic background.

X CHang et al. Apr 17, 2015. PLoS One.
The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative.

ME Calkins et al. Apr 8, 2015. The Journal of Child Psychology & Psychiatry and Allied Disciplines.
The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth.

TD Satterthwaite et al. Mar 31, 2015. Neuroimage.
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.

C Mancini et al. Mar 19, 2015. BMC Medical Genetics.
Functional Neuroimaging Abnormalities in Youth With Psychosis Spectrum Symptoms.

DH Wolf et al. Mar 18, 2015. JAMA Psychiatry.
Contribution of common non-synonymous variants in PCSK1 to body-mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331,175 individuals.

KT Nead et al. Mar 17, 2015. Human Molecular Genetics.
A novel Alzheimer disease locus located near the gene encoding tau protein.

G Jun et al. Mar 17, 2015. Molecular Psychiatry.

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