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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Genomic risk scores for juvenile idiopathic arthritis and its subtypes

R Canovas et al. Sep 04, 2020. Annals of the Rheumatic Diseases.
Detection of maternal X chromosome abnormalities using single nucleotide polymorphism-based noninvasive prenatal testing

KA Martin et al. Aug 2020. American Journal of Obstetrics and Gynecology.
High prevalence of elevated serum liver enzymes in Chinese children suggests metabolic syndrome as a common risk factor

J Wang et al. Aug 07, 2020. Journal of Paediatrics and Child Health.
Assessing non-Mendelian inheritance in inherited axonopathies

DM Bis-Brewer et al. Aug 03, 2020. Genetics in Medicine.
Risk of preeclampsia in patients with maternal genetic predisposition to common medical conditions: a case-control study

KJ Gray et al. Aug 02, 2020. BJOG: An international Journal of Obstetrics and Gynaecology.
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk

M Thomas et al. July 29, 2020. American Journal of Human Genetics.
The Infection Rate of the Coronavirus Disease 2019 (COVID-19) in Wuhan, China: a Combined Analysis of Population Samples

Q Hui-Qi et al. July 22, 2020. Journal of Medical Internet Research.
Participant choices for return of genomic results in the eMERGE Network

C Hoell et al. July 16, 2020. Genetics in Medicine.
Unsupervised Modeling and Genome-Wide Association Identify Novel Features of Allergic March Trajectories

SJ Gabryszewski et al. July 07, 2020. The Journal of Allergy and Clinical Immunology.
A Homozygous Truncating NALCN Variant in Two Afro-Caribbean Siblings With Hypotonia and Dolichocephaly

O Ope et al. July 02, 2020. American Journal of Medical Genetics A.
Epilepsy Subtype-Specific Copy Number Burden Observed in a Genome-Wide Study of 17,458 Subjects

LM Niestroj et al. June 22, 2020. Brain.
Frequency of Genomic Secondary Findings Among 21,915 eMERGE Network Participants

MR Hart et al. June 17, 2020. Genetics in Medicine.
Gene-based Analyses of the Maternal Genome Implicate Maternal Effect Genes as Risk Factors for Conotruncal Heart Defects

A Sewda et al. June 09, 2020. PLoS One.
Application of Exome Sequencing to Diagnose a Novel Presentation of the Cornelia De Lange Syndrome in an Afro-Caribbean Family

W Thompson et al. June 08, 2020. Molecular Genetics and Genomic Medicine.
Activating Variants in PDGFRB Result in a Spectrum of Disorders Responsive to Imatinib Monotherapy

TL Wenger et al. June 05, 2020. American Journal of Medical Genetics A.
Variants in the Kisspeptin-GnRH Pathway Modulate the Hormonal Profile and Reproductive Outcomes

CM Trevisan et al. June, 2020. DNA and Cell Biology.
European Genetic Ancestry Associated With Risk of Childhood Ependymoma

C Zhang et al. June 02, 2020. Neuro-Oncology.
TNFAIP8 Controls Murine Intestinal Stem Cell Homeostasis and Regeneration by Regulating Microbiome-Induced Akt Signaling

JR Goldsmith et al. May 22, 2020. Nature Communication.
Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B

D Li et al. May 12, 2020. The Journal of Clinical Endocrinology and Metabolism.
Distinct Features of SARS-CoV-2-specific IgA Response in COVID-19 Patients

HQ Yu et al. May 12, 2020. The European Respiratory Journal.

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