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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum.

C Murali et al. Feb 04, 2019. American Journal of Medical Genetics A.
Effects of the interaction between genetic factors and maltreatment on child and adolescent psychiatric disorders.

CM Carvalho et al. Jan 29, 2019. Psychiatry Research.
tRNA-DL: A Deep Learning Approach to Improve tRNAscan-SE Prediction Results.

X Gao et al. Jan 25, 2019. Human Heredity.
Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis.

JE Salem et al. Jan 23, 2019. JAMA Cardiology.
Midazolam Dose Optimization in Critically Ill Pediatric Patients With Acute Respiratory Failure: A Population Pharmacokinetic-Pharmacogenomic Study.

AF Zuppa et al. Jan 21, 2019. Critical Care Medicine.
Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting.

G Chauhan et al. Jan 16, 2019. Neurology.
Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency.

H Morales-Briceno et al. Jan 09, 2019. Neurology.
The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

M Verbitsky et al. Jan, 2019. Nature Genetics.
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.

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