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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.

D Li et al. June 14, 2018. Human Molecular Genetics.
137 ancient human genomes from across the Eurasian steppes.

PB Damgaard et al. May 09, 2018. Nature.
Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants.

D Li et al. Apr 06, 2018. Annals of Translational Medicine.
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

I Sanchez-Navarro et al. Mar 27, 2018. Scientific Reports.
Genetic Reduction in Left Ventricular Protein Kinase C-α and Adverse Ventricular Remodeling in Human Subjects.

R Hu et al. Mar 11, 2018. Circulation. Genomic and Precision Medicine.
Whole Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.

AC Mak et al. Mar 6, 2018. American Journal of Respiratory and Critical Care Medicine.
Food allergen triggers are increased in children with the TSLP risk allele and eosinophilic esophagitis.

LM Fahey et al. Mar 6, 2018. Clinical and Translational Gastroenterology.
Polygenic Risk Score for Alzheimer's Disease: Implications for Memory Performance and Hippocampal Volumes in Early Life.

LK Axelrud et al. Mar 2, 2018. American Journal of Psychiatry.
Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants.

DS Kim et al. Mar, 2018. The Journal of Thoracic and Cardiovascular Surgery.
CYP3A4 mutation causes vitamin D-dependent rickets type 3.

JD Roizen et al. Feb 20, 2018. The Journal of Clinical Investigation.
Non-coding RNA dysregulation in the amygdala region of schizophrenia patients contributes to the pathogenesis of the disease.

Y Liu et al. Feb 02, 2018. Translational Psychiatry.
Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.

H Vahidnezhad et al. Jan 24, 2018. Experimental Dermatology.
Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling.

J Elia et al. Jan 16, 2018. Nature Communications.
Learning-dependent chromatin remodeling highlights noncoding regulatory regions linked to autism.

JN Koberstein et al. Jan 16, 2018. Science Signaling.
Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics.

RN Beaumont et al. Jan 03, 2018. Human Molecular Genetics.
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

V Turcot et al. Jan, 2018. Nature Genetics.
Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.

M McCormack et al. Dec 29, 2017. Neurology.
Effects of the brain-derived neurotropic factor variant Val66Met on cortical structure in late childhood and early adolescence.

CM de Araujo et al. Dec 20, 2017. Journal of Psychiatric Research.
Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).

X Chang et al. Dec 18, 2017. The Journal of Pediatrics.
A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder.

M Agee et al. Dec 02, 2017. Biological Psychiatry.

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