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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

NJ Van Bergen et al. Jan 1, 2019. Brain.
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.

R Rius et al. Dec 11, 2018. Molecular Genetics and Metabolism.
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.

International League Against Epilepsy Consortium on Complex Epilepsies. Dec 10, 2018. Nature Communication.
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

D Demontis et al. Nov 26, 2018. Nature Genetics.
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

EJ Bhoj et al. Nov 26, 2018. European Journal of Medical Genetics.
Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling.

TO Hall et al. Nov 21, 2018. Genes and Immunity.
Novel locus for atopic dermatitis in African Americans and replication in European Americans.

B Almoguera et al. Nov 08, 2018. Journal of Allergy and Clinical Immunology.
Leveraging electronic health records to assess the role of ADRB2 single nucleotide polymorphisms in predicting exacerbation frequency in asthma patients.

N Sood et al. Nov, 2018. Pharmacogenetics and Genomics.
Phenome-wide association studies across large population cohorts support drug target validation.

D Diogo et al. Oct 16, 2018. Nature Communications.
Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data.

DS Tylee et al. Oct 16, 2018. American Journal of Medical Genetics, Part B Neuropsychiatric Genetics.
Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk.

International Multiple Sclerosis Genetics Consortium et al. Oct 13, 2018. Cell.
The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.

IB Stanaway et al. Oct 08, 2018. Genetic Epidemiology.
Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.

X Chang et al. Sept 28, 2018. Frontiers in Genetics
Common variants at 5q33.1 predispose to migraine in African-American children.

X Chang et al. Sep 28 , 2018. Journal of Medical Genetics.
First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes.

DL Cousminer et al. Sep 25, 2018. Diabetes Care.
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.

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