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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African ancestry anthropometry genetics consortium.

MCY Ng et al. Apr 21, 2017. PLoS Genetics.
Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.

U Esslinger et al. Mar 15, 2017. PLoS One.
CYP3A4 induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients with CYP24A1 Mutations.

CP Hawkes et al. Mar 03, 2017. The Journal of Clinical Endocrinology and Metabolism.
Rare copy number variants in patients with congenital conotruncal heart defects.

HM Xie et al. Mar 01, 2017. Birth Defects Research.
Exome sequencing reveals mutations in AIRE as a cause of isolated hypoparathyroidism.

D Li et al. Feb 21, 2017. The Journal of Clinical Endocrinology and Metabolism.
Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.

Y Guo et al. Feb 15, 2017. BMC Medical Genetics.
A Genome-Wide Association Study Identifies Two Sex-specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites.

A Chesi et al. Feb 09, 2017. Journal of Bone and Mineral Research.
Transethnic genome-wide scan identifies novel Alzheimer's disease loci.

GR Jun et al. Feb 06, 2017. Alzheimer's and Dementia.
Loss of Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.

PM Sleiman et al. Feb 01, 2017. Human Mutation.
Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene.

MB Abraham et al. Jan 25, 2017. International Journal of Pediatric Endocrinology.
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

E Lopez-Rivera et al. Jan 25, 2017. New England Journal of Medicine.
Genome-wide association study of therapeutic opioid dosing identifies a novel locus upstream of OPRM1.

AH Smith et al. Jan 24, 2017. Molecular Psychiatry.
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.

G Dhir et al. Dec 07, 2016. Bone.
Loss of EGFR-ASAP1 signaling in metastatic and unresectable hepatoblastoma.

S Ranganathan et al. Dec 02, 2016. Scientific Reports.
PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.

AF Schmidt et al. Nov 28, 2016. The Lancet. Diabetes and Endocrinology.
Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.

C Cardinale et al. Nov 09, 2016. BMC Musculoskeletal Disorders.
Copy number variation analysis reveals additional variants contributing to endometriosis development.

F Mafra et al. Nov 05, 2016. Journal of Assisted Reproduction and Genetics.
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.

Y Yang et al. Oct 21, 2016. BMC Urology.
CYP2B6*6 or Not CYP2B6*6-That Remains a Question for Precision Medicine and Ketamine!

SD Cook-Sather et al. Oct 20, 2016. Anesthesiology.
Association between polygenic risk for schizophrenia, neurocognition and social cognition across development.

L Germine et al. Oct 18, 2016. Translational Psychiatry.

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