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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

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.
Severe Lymphatic Disorder Resolved With MEK Inhibition in a Patient With Noonan Syndrome and SOS1 Mutation

Y Dori et al. Nov 20, 2020. Pediatrics.
Association of DLL1 with type 1 diabetes in patients characterized by low polygenic risk score

J Qu et al. Nov 04, 2020. Metabolism.
Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans

X Chang et al. Nov 02, 2020. Translational Psychiatry.
Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality

J So et al. Oct 30, 2020. Frontiers in Physiology.
COVID-19: Look to the Future, Learn from the Past

ZJ Cheng et al. Oct 29, 2020. Viruses.
Genetic predisposition to longer telomere length and risk of childhood, adolescent and adult-onset ependymoma

C Zhang et al. Oct 28, 2020. Acta Neuropathologica Communications.
A distinct GM-CSF + T helper cell subset requires T-bet to adopt a T H 1 phenotype and promote neuroinflammation

J Rasouli et al. Oct 23, 2020. Science Immunology.
Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis

BW Kunkle et al. Oct 19, 2020. JAMA Neurology.
Expression Pattern of the SARS-CoV-2 Entry Genes ACE2 and TMPRSS2 in the Respiratory Tract

Y Liu et al. Oct 16, 2020. Viruses.

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