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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

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.
Genome-wide associations for birth weight and correlations with adult disease.

M Horikoshi et al. Sep 28, 2016. Nature.
Genome-wide Association Study Identifies African-Specific Susceptibility Loci in African Americans with Inflammatory Bowel Disease.

SR Brant et al. Sep 28, 2016. Gastroenterology.
Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene.

G van Ingen et al. Sep 28, 2016. Nature Communications.
Identification of Four Novel Loci in Asthma in European and African American Populations.

B Almoguera et al. Sep 09, 2016. American Journal of Respiratory and Critical Care Medicine.

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