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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.

P Netter et al. Mar 23, 2016. Journal of Allergy and Clinical Immunology.
Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.

MD Keller et al. Mar 23, 2016. Journal of Allergy and Clinical Immunology.
Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility.

TH Finkel et al. Mar 22, 2016. BMC Medical Genetics.
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

D Li et al. Mar 16, 2016. Case Report in Genetics.
Structural Brain Abnormalities in Youth With Psychosis Spectrum Symptoms.

TD Satterthwaite et al. Mar 16, 2016. JAMA Psychiatry.
Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight.

J Tyrrell et al. Mar 15, 2016. JAMA.
Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter with Neonatal Primary Hyperparathyroidism.

D Li et al. Mar 10, 2016. The Journal of Clinical Endocrinology and Metabolism.
Assessment of the genetic variance of late-onset Alzheimer's disease.

PG Ridge et al. Mar 03, 2016. Neurobiology of Aging.
An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder.

L de Araujo Lima et al. Mar 07, 2016. Scientific Reports.
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.

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