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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.

D Li et al. Jul 01, 2019. Nature Medicine.
Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk 2.

International Multiple Sclerosis Genetics Consortium et al. Jun 27, 2019. Cell.
Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure.

P Cordero et al. Jun 24, 2019. Nature Communications.
Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.

HM Xie et al. Jun 20, 2019. Birth Defects Research.
Damaging Variants in Proangiogenic Genes Impair Growth in Fetuses with Cardiac Defects.

MW Russell et al. Jun 18, 2019. The Journal of Pediatrics.
Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk.

JG Pouget et al. Jun 18, 2019. Human Molecular Genetics.
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

NM Warrington et al. May, 2019. Nature Genetics.
Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches.

S Yao et al. May 15, 2019. Biological Psychiatry.
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.

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