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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Regulation of Janus Kinase 2 by an Inflammatory Bowel Disease Causal Non-coding Single Nucleotide Polymorphism

CJ Cardinale et al. Apr 09, 2020. Journal of Crohns and Colitis.
Exome Sequencing Identifies PEX6 Mutations in Three Cases Diagnosed With Retinitis Pigmentosa and Hearing Impairment

G Garcia-Garcia et al. Mar 18, 2020. Molecular Vision.
Mitochondrial DNA Haplogroups and Susceptibility to Neuroblastoma

X Chang et al. Feb 25, 2020. Journal of the National Cancer Instritute.
Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.

MA Munn-Chernoff et al. Feb 16, 2020. Addiction Biology.
Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study.

EM Resiman et al. Feb 03, 2020. Nature Communications.
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.

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