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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Making work visible for electronic phenotype implementation: lessons learned from the eMERGE network.

N Shang et al. Sep 19, 2019. Journal of Biomedical Informatics.
Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios.

Y Liu et al. Sep 10, 2019. Frontiers in Genetics.
Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration.

X Liu et al. Sep 02, 2019. Nature Communications.
Application of ACMG criteria to classify variants in the human gene mutation database.

HQ Qu et al. Aug 26, 2019. Journal of Human Genetics.
Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma.

LE Egolf et al. Aug 21, 2019. American Journal of Human Genetics.
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

eMERGE Consortium. Aug 20, 2019. American Journal of Human Genetics.
Mutations in topoisomerase II-beta result in a B cell immunodeficiency.

L Broderick et al. Aug 13, 2019. Nature Communications.
Target Genes of Autism Risk Loci in Brain Frontal Cortex.

Y Sun et al. Aug 09, 2019. Frontiers in Genetics.
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.
Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses.

MW Russell et al. Jul 26, 2019. Data in Brief.
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.
CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease.

JT Glessner et al. Jul 19, 2019. International Journal of Cardiology.
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.
A Trans-ancestral Meta-Analysis of Genome-Wide Association Studies Reveals Loci Associated with Childhood Obesity.

JP Bradfield et al. Jul 05, 2019. Human Molecular Genetics.
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.

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