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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.

T Wenger et al. Nov 12, 2017. American Journal of Medical Genetics. Part A.
A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures.

MG Vogiatzi et al. Oct 03, 2017. Osteoporosis International.
Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.

X Chang et al. Sep 18, 2017. Nature Communications.
A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD.

CD Mavroudis et al. Sep 20, 2017. Cardiology in the Young.
Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders.

D Chalkia et al. Aug 23, 2017. JAMA Psychiatry.
Genome-wide association study identifies novel type II diabetes risk loci in Jordan subpopulations.

R Dajani et al. Aug 17, 2017. PeerJ.
RNA-seq analysis of amygdala tissue reveals characteristic expression profiles in schizophrenia.

X Chang et al. Aug 09, 2017. Translational Psychiatry.
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.

Y Tatour et al. Aug 09, 2017. Journal of Medical Genetics.
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.

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