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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Mutations in topoisomerase II-beta result in a B cell immunodeficiency.

L Broderick et al. Aug 13, 2019. Nature Communications.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

HA Haijes et al. Aug 01, 2019. American Journal of Human Genetics.
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.

Epi25 Collaborative. Aug 01, 2019. American Journal of Human Genetics.
Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence.

PRS Cruz et al. Jul 26, 2019. Scientific Reports.
Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects.

A Sewda et al. Jul 17, 2019. PLoS One.
GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.

B Namjou et al. Jul 17, 2019. BMC Medicine.
Genetic risk for Alzheimer's disease and functional brain connectivity in children and adolescents.

LK Axelrud et al. Jul 06, 2019. Neurobiology of Aging.
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.

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