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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

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.
Transethnic genome-wide scan identifies novel Alzheimer's disease loci.

GR Jun et al. Feb 06, 2017. Alzheimer's and Dementia.
Loss of Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.

PM Sleiman et al. Feb 01, 2017. Human Mutation.
Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene.

MB Abraham et al. Jan 25, 2017. International Journal of Pediatric Endocrinology.
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

E Lopez-Rivera et al. Jan 25, 2017. New England Journal of Medicine.
Genome-wide association study of therapeutic opioid dosing identifies a novel locus upstream of OPRM1.

AH Smith et al. Jan 24, 2017. Molecular Psychiatry.
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.

G Dhir et al. Dec 07, 2016. Bone.
Loss of EGFR-ASAP1 signaling in metastatic and unresectable hepatoblastoma.

S Ranganathan et al. Dec 02, 2016. Scientific Reports.

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