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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

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.
Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups

O Dikilitas et al. May 07, 2020. American Journal of Human Genetics.
Type I IFN Response Associated With mTOR Activation in the TAFRO Subtype of Idiopathic Multicentric Castleman Disease

RA Langan Pai et al. May 07, 2020. JCI Insight.
The Polygenic Architecture of Left Ventricular Mass Mirrors the Clinical Epidemiology

JD Mosley et al. May 05, 2020. Scientific Reports.
Genetic Identification of Cell Types Underlying Brain Complex Traits Yields Insights Into the Etiology of Parkinson's Disease

J Bryois et al. May, 2020. Nature Genetics.
Homozygous Splice-Variants in Human ARV1 Cause GPI-anchor Synthesis Deficiency

M Davids et al. May, 2020. Molecular Genetics and Metabolism.
Novel KITLG/SCF Regulatory Variants Are Associated With Lung Function in African American Children With Asthma

ACY Mac et al. Apr 23, 2020. Genetics.
Neuroinflammation and EIF2 Signaling Persist Despite Antiretroviral Treatment in an hiPSC Tri-culture Model of HIV Infection

SK Ryan et al. Apr 14, 2020. Stem Cell Reports.
Role of the ADCY9 Gene in Cardiac Abnormalities of the Rubinstein-Taybi Syndrome

Y Wu et al. Apr 11, 2020. Orphanet Journal of Rare Diseases.
A Genome-Wide Association Study of Polycystic Ovary Syndrome Identified From Electronic Health Records

Y Zhang et al. Apr 11, 2020. American Journal of Obstetrics and Gynecology.

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