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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Performance of model-based multifactor dimensionality reduction methods for epistasis detection by controlling population structure

F Abegaz et al. Feb 19, 2021. Biodata Mining.
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux

M Verbitsky et al. Feb 17, 2021. Journal of the American Society of Nephrology.
RUNX1 haploinsufficiency causes a marked deficiency of megakaryocyte-biased hematopoietic progenitor cells

B Estevez et al. Feb 09, 2021. Blood.
A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease

A Strong et al. Feb 05, 2021. American Journal of Medical Genetics A.
Heparin-binding protein levels correlate with aggravation and multiorgan damage in severe COVID-19

M Xue et al. Feb 01, 2021. ERJ Open Research.
FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy

X Qin et al. Jan 30, 2021. Translational Psychiatry.
Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders

X Yao et al. Jan 21, 2021. Translational Psychiatry.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

I Perea-Romero et al. Jan 15, 2021. Scientific Reports.
Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1

D Li et al. Jan 12, 2021. Clinical Genetics.
DeepCNV: a deep learning approach for authenticating copy number variations

JT Glessner et al. Jan 11, 2021. Briefings in Bioinformatics.
Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics

R Li et al. Jan 08, 2021. Nature Communications.
Association of novel rare coding variants with juvenile idiopathic arthritis

X Meng et al. Jan 06, 2021. Annals of the Rheumatic Diseases.
Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort

EA Rosenthal et al. Jan 06, 2021. BMC Medical Genomics.
Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual

DL Cousminer et al. Jan 04, 2021. Genome Biology.
A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening

ML Leung et al. Jan 2021. The Journal of Molecular Diagnosis.
Ciliopathies: Coloring outside of the lines

A Strong et al. Dec 25, 2020. American Journal of Medical Genetics A.
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

L Bryant et al. Dec 02, 2020. Science Advances.
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

D Li et al. Nov 27, 2020. Genetics in Medicine.
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

DL Polla et al. Nov 27, 2020. Genetics in Medicine.
Asthma and its relationship to mitochondrial copy number: Results from the Asthma Translational Genomics Collaborative (ATGC) of the Trans-Omics for Precision Medicine (TOPMed) program

MP Cocco et al. Nov 25, 2020. PLoS One.

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