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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

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.
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.

D Li et al. Sep 03, 2016. American Journal of Human Genetics.
A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways.

M Bustamante et al. Aug 23, 2016. Human Molecular Genetics.
Mendelian randomization analysis demonstrates that low vitamin D is unlikely causative for pediatric asthma.

EB Hysinger et al. Aug 20, 2016. Journal of Clinical Immunology.
A current snapshot of common genomic variants contribution in psychiatric disorders.

ML Santoro et al. Aug 03, 2016. American Journal of Medical Genetics B.
A pleiotropic missense variant in SLC39A8 is associated with Crohn's disease and human gut microbiome composition.

D Li et al. Aug 01, 2016. Gastroenterology.
Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder.

T Lingren et al. Jul 29, 2016. PLoS One.
A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GMCSF.

LS Chuang et al. Jul 01, 2016. Gastroenterology.
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.

M Nafisinia et al. Jun 26, 2016. JIMD Reports.

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