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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Drug-resistant epilepsy classified by a phenotyping algorithm associates with NTRK2.

B Almoguera et al. May 09, 2019. Acta Neurologica Scandinavia.
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.

EG Bend et al. Apr 27, 2019. Clinical Epigenetics.
Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network.

JN Hellwege et al. Apr 15, 2019. Scientific Reports.
Multiple Epistasis Interactions Within MHC Are Associated With Ulcerative Colitis.

J Zhang et al. Apr 03, 2019. Frontiers in Genetics.
Gene expression over the course of schizophrenia: from clinical high-risk for psychosis to chronic stages.

VK Ota et al. Mar 28, 2019. NPJ Schizophrenia.
Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils.

J Li et al. Mar 27, 2019. Frontiers in Genetics.
Morphine Dose Optimization in Critically Ill Pediatric Patients With Acute Respiratory Failure: A Population Pharmacokinetic-Pharmacogenomic Study.

AF Zuppa et al. Mar 27, 2019. Critical Care Medicine.
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.

T Chiang et al. Mar 20, 2019. Genetics in Medicine.
The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia: design, results and future prospects.

CM Middeldorp et al. Mar 18, 2019. European Journal of Epidemiology.
Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network.

X Zhang et al., 2019. Pacific Symposium on Biocomputing.
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

BW Kunkle et al. Mar, 2019. Nature Genetics.
DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis.

SI Belangero et al. Feb 27, 2019. Psychiatry Research.
Characterization of rare variants in MC4R in African American and/or Latino children with severe early onset obesity.

MC De Rosa et al. Feb 27, 2019. The Journal of Clinical Endocrinology and Metabolism.
Candidate gene analyses for acute pain and morphine analgesia after pediatric day surgery: African American versus European Caucasian ancestry and dose prediction limits.

J Li et al. Feb 14, 2019. The Pharmacogenomics Journal.
Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum.

C Murali et al. Feb 04, 2019. American Journal of Medical Genetics A.
The Autoimmune Disorder Susceptibility Gene CLEC16A Restrains NK Cell Function in YTS NK Cell Line and Clec16a Knockout Mice.

R Pandey et al. Feb 01, 2019. Frontiers in Immunology.
Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa.

X Chang et al. Jan 29, 2019. Journal of Psychiatric Research.
Effects of the interaction between genetic factors and maltreatment on child and adolescent psychiatric disorders.

CM Carvalho et al. Jan 29, 2019. Psychiatry Research.
tRNA-DL: A Deep Learning Approach to Improve tRNAscan-SE Prediction Results.

X Gao et al. Jan 25, 2019. Human Heredity.
Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis.

JE Salem et al. Jan 23, 2019. JAMA Cardiology.

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