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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes.

V Forgetta et al. Jan 31, 2020. Diabetes.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.

MD Kessler et al. Jan 21, 2020. Proceedings of the National Academy of Sciences of the USA.
Genetic architecture study of rheumatoid arthritis and juvenile idiopathic arthritis.

J Jia et al. Jan 15, 2020. PeerJ.
A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies.

YY Joo et al. Jan 09, 2020. The Journal of Clinical Endocrinology and Metabolism.
Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.

ML Leung et al. Jan 08, 2020. Scientific Data.
Are serum brain-derived neurotrophic factor concentrations related to brain structure and psychopathology in late childhood and early adolescence?

CM de Araujo et al. Dec 17, 2019. CNS Spectrums.
Genetic Discrimination Between LADA and Childhood-Onset Type 1 Diabetes Within the MHC.

R Mishra et al. Dec 16, 2019. Diabetes Care.
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders.

Cross-Disorder Group of the Psychiatric Genomics Consortium et al. Dec 12, 2019. Cell.
LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data.

L Fang et al. Dec 06, 2019. Nature Communications.
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.

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