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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Homozygous Splice-Variants in Human ARV1 Cause GPI-anchor Synthesis Deficiency

M Davids et al. May, 2020. Molecular Genetics and Metabolism.
Novel KITLG/SCF Regulatory Variants Are Associated With Lung Function in African American Children With Asthma

ACY Mac et al. Apr 23, 2020. Genetics.
Neuroinflammation and EIF2 Signaling Persist Despite Antiretroviral Treatment in an hiPSC Tri-culture Model of HIV Infection

SK Ryan et al. Apr 14, 2020. Stem Cell Reports.
Role of the ADCY9 Gene in Cardiac Abnormalities of the Rubinstein-Taybi Syndrome

Y Wu et al. Apr 11, 2020. Orphanet Journal of Rare Diseases.
A Genome-Wide Association Study of Polycystic Ovary Syndrome Identified From Electronic Health Records

Y Zhang et al. Apr 11, 2020. American Journal of Obstetrics and Gynecology.
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.

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