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CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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Publications

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.
Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study.

BP Prins et al. Jun 21, 2016. PLoS Medicine.
Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches.

J Li et al. Jun 14, 2016. Biochimica et Biophysica Acta.
From schizophrenia risk locus to schizophrenia genes.

P Sleiman & H Hakonarson. Jun 07, 2016. Nature Medicine.
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

YA Zarate et al. Jun 05, 2016. American Journal of Medical Genetics A.
The Added Value of Family Material in the Discovery of Multiple Sclerosis Genes.

HS Hain & H Hakonarson. Jun 01, 2016. Neuron.
Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index.

A Hinney et al. May 17, 2016. Molecular Psychiatry.
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.

FS Eichler et al. May 05, 2016. Brain.
Pathway-based Genome-wide Association Studies Reveal the Association Between Growth Factor Activity and Inflammatory Bowel Disease.

J Li et al. Apr 21, 2016. Inflammatory Bowel Diseases.
Are genetic tests informative in predicting food allergy?

J Li et al. Apr 11, 2016. Current Opinion in Allergy and Clinical Immunology.
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

R Chen et al. Apr 11, 2016. Nature Biotechnology.
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

EJ Bhoj et al. Apr 07, 2016. American Journal of Human Genetics.

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