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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

NJ Van Bergen et al. Dec 03, 2019. Brain.
X-chromosome association studies of congenital heart defects.

AJ Agopian et al. Nov 15, 2019. American Journal of Medical Genetics A.
The Genetic Contribution to Type 1 Diabetes.

M Bakay et al. Nov 04, 2019. Current Diabetes Reports.
Expanding the Genetic Landscape of Usher-Like Phenotypes.

C Fuster-García et al. Nov 01, 2019. Investigative Ophthalmology and Visual Science
Associations of autozygosity with a broad range of human phenotypes.

DW Clark et al. Oct 31, 2019. Nature Communications.
Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9.

AF Schmidt et al. Oct 29, 2019. BMC Cardiovascular Disorders.
Detecting multiple differentially methylated CpG sites and regions related to dimensional psychopathology in youths.

LM Spindola et al. Oct 21, 2019. Clinical Epigenetics.
Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization.

JR Robinson et al. Oct 11, 2019. World Journal of Surgery.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

SK Fiordaliso et al. Sep 30, 2019. American Journal of Human Genetics.
Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility.

International Multiple Sclerosis Genetics Consortium et al. Sep 27, 2019. Science.
Making work visible for electronic phenotype implementation: lessons learned from the eMERGE network.

N Shang et al. Sep 19, 2019. Journal of Biomedical Informatics.
Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios.

Y Liu et al. Sep 10, 2019. Frontiers in Genetics.
Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene.

M Avitabile et al. Sep 07, 2019. Carcinogenesis.
Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration.

X Liu et al. Sep 02, 2019. Nature Communications.
Application of ACMG criteria to classify variants in the human gene mutation database.

HQ Qu et al. Aug 26, 2019. Journal of Human Genetics.
Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma.

LE Egolf et al. Aug 21, 2019. American Journal of Human Genetics.
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

eMERGE Consortium. Aug 20, 2019. American Journal of Human Genetics.
Mutations in topoisomerase II-beta result in a B cell immunodeficiency.

L Broderick et al. Aug 13, 2019. Nature Communications.
Target Genes of Autism Risk Loci in Brain Frontal Cortex.

Y Sun et al. Aug 09, 2019. Frontiers in Genetics.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

HA Haijes et al. Aug 01, 2019. American Journal of Human Genetics.

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