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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

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.
Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.

T Wenger et al. Nov 12, 2017. American Journal of Medical Genetics. Part A.
A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures.

MG Vogiatzi et al. Oct 03, 2017. Osteoporosis International.
Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.

X Chang et al. Sep 18, 2017. Nature Communications.
A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD.

CD Mavroudis et al. Sep 20, 2017. Cardiology in the Young.
Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders.

D Chalkia et al. Aug 23, 2017. JAMA Psychiatry.
Genome-wide association study identifies novel type II diabetes risk loci in Jordan subpopulations.

R Dajani et al. Aug 17, 2017. PeerJ.
RNA-seq analysis of amygdala tissue reveals characteristic expression profiles in schizophrenia.

X Chang et al. Aug 09, 2017. Translational Psychiatry.
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.

Y Tatour et al. Aug 09, 2017. Journal of Medical Genetics.

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