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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Pain versus analgesia: TAOK3 as a pharmacogene.

SD Cook-Sather, Li & Hakonarson. Aug, 2017. Pain.
Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa.

LM Huckins et al. Jul 25, 2017. Molecular Psychiatry.
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

R Sims et al. Jul 17, 2017. Nature Genetics.
A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

D Li et al. Jun 19, 2017. Scientific Reports.
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

MR Geisheker et al. Jun 19, 2017. Nature Neuroscience.
GDF15 is a heart-derived hormone that regulates body growth.

T Wang et al. Jun 01, 2017. EMBO Molecular Medicine.
Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.

LD McDaniel et al. May 18, 2017. PLoS Genetics.
Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

AJ Agopian et al. Jun 10, 2017. Circulation. Cardiovascular Genetics.
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.

DJ Weiner et al. May 15, 2017. Nature Genetics.
Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa.

L Duncan et al. May 12, 2017. The American Journal of Psychiatry.
Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.

LJ Rasmussen-Torvik et al. May 11, 2017. The Journal of Molecular Diagnostics.
Relative contribution of type 1 and type 2 diabetes loci to the genetic etiology of adult-onset, non-insulin-requiring autoimmune diabetes.

R Mishra et al. Apr 25, 2017. BMC Medicine.
Age-related effects and sex differences in gray matter density, volume, mass, and cortical thickness from childhood to young adulthood.

ED Gennatas et al. Apr 21, 2017. The Journal of Neuroscience.
Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African ancestry anthropometry genetics consortium.

MCY Ng et al. Apr 21, 2017. PLoS Genetics.
Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.

U Esslinger et al. Mar 15, 2017. PLoS One.
CYP3A4 induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients with CYP24A1 Mutations.

CP Hawkes et al. Mar 03, 2017. The Journal of Clinical Endocrinology and Metabolism.
Rare copy number variants in patients with congenital conotruncal heart defects.

HM Xie et al. Mar 01, 2017. Birth Defects Research.
Exome sequencing reveals mutations in AIRE as a cause of isolated hypoparathyroidism.

D Li et al. Feb 21, 2017. The Journal of Clinical Endocrinology and Metabolism.
Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.

Y Guo et al. Feb 15, 2017. BMC Medical Genetics.
A Genome-Wide Association Study Identifies Two Sex-specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites.

A Chesi et al. Feb 09, 2017. Journal of Bone and Mineral Research.

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