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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches.

J Li et al. Jun 14, 2016. Biochimica et Biophysica Acta.
From schizophrenia risk locus to schizophrenia genes.

P Sleiman & H Hakonarson. Jun 07, 2016. Nature Medicine.
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

YA Zarate et al. Jun 05, 2016. American Journal of Medical Genetics A.
The Added Value of Family Material in the Discovery of Multiple Sclerosis Genes.

HS Hain & H Hakonarson. Jun 01, 2016. Neuron.
Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index.

A Hinney et al. May 17, 2016. Molecular Psychiatry.
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.

FS Eichler et al. May 05, 2016. Brain.
Pathway-based Genome-wide Association Studies Reveal the Association Between Growth Factor Activity and Inflammatory Bowel Disease.

J Li et al. Apr 21, 2016. Inflammatory Bowel Diseases.
Are genetic tests informative in predicting food allergy?

J Li et al. Apr 11, 2016. Current Opinion in Allergy and Clinical Immunology.
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

R Chen et al. Apr 11, 2016. Nature Biotechnology.
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

EJ Bhoj et al. Apr 07, 2016. American Journal of Human Genetics.
Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia.

ZC Cofer et al. Mar 24, 2016. PLoS One.
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.

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