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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

J Kennedy et al. Sep 24, 2018. Genetic in Medicine.
Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease.

GM Peloso et al. Sep 22, 2018. Alzheimer's and Dementia.
CLEC16A regulates splenocyte and NK cell function in part through MEK signaling

R Pandey et al. Sep 18, 2018. PLoS One.
Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.

D Li et al. Aug 20, 2018. Journal of Clinical Endocrinology and Metabolism.
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.

Y Chen et al. Aug 13, 2018. PLoS Genetics.
The Long Noncoding RNA Landscape in Amygdala Tissues from Schizophrenia Patients.

T Tian, et al. Aug 01, 2018. EBioMedicine.
Implications of an admixed Brazilian population in schizophrenia polygenic risk score.

F Talarico, et al. July 26, 2018. Schizophrenia Research.
Sex-specific genetic predictors of Alzheimer's disease biomarkers.

Y Deming et al. July 02, 2018. Acta Neuropathologica.
Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at PLEKHG1.

KJ Gray et al. July 02, 2018. Hypertension.
Analysis of shared heritability in common disorders of the brain.

Brainstorm Consortium et al. June 22, 2018. Science.
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.

Y Momozawa et al. June 21, 2018. Nature Communications.
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.

E Barca et al. June 18, 2018. Human Molecular Genetics.
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.

D Li et al. June 14, 2018. Human Molecular Genetics.
137 ancient human genomes from across the Eurasian steppes.

PB Damgaard et al. May 09, 2018. Nature.
Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants.

D Li et al. Apr 06, 2018. Annals of Translational Medicine.
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

I Sanchez-Navarro et al. Mar 27, 2018. Scientific Reports.
Genetic Reduction in Left Ventricular Protein Kinase C-α and Adverse Ventricular Remodeling in Human Subjects.

R Hu et al. Mar 11, 2018. Circulation. Genomic and Precision Medicine.
Whole Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.

AC Mak et al. Mar 6, 2018. American Journal of Respiratory and Critical Care Medicine.
Food allergen triggers are increased in children with the TSLP risk allele and eosinophilic esophagitis.

LM Fahey et al. Mar 6, 2018. Clinical and Translational Gastroenterology.
Polygenic Risk Score for Alzheimer's Disease: Implications for Memory Performance and Hippocampal Volumes in Early Life.

LK Axelrud et al. Mar 2, 2018. American Journal of Psychiatry.

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