Professor of Pediatrics, Professor of Ophthalmology, Johns Hopkins University School of Medicine

Medical Genetics

David Valle works in the field of Medical Genetics. He went to Duke University School of Medicine. Duke University School of Medicine is a top medical college. Duke University School of Medicine is ranked 8 in research and 29 in primary care medicine He received 3 awards: "CMS Meaningful Use Stage 1 Certification", "Elected Member" and "Investigator Alumnus". David Valle has written publications. He has 11 publications published with PubMed. The lastest paper is: 'The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.'

Publications

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• Reduced PLP2 expression increases ER-stress-induced neuronal apoptosis and risk for adverse neurological outcomes after hypoxia ischemia injury.
• Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS.
• Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopa...
• New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, A Web-based Tool for Linking Investigators with an Interest in t...
• An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic he...
• Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.
• A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.
• A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia.
• Neonatal cholestasis as initial manifestation of type 2 Gaucher disease: a continuum in the spectrum of early onset Gaucher disease.
• The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Schools

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• Duke University

• Johns Hopkins University

Doctors Specialties

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• Clinical Biochemical Genetics
• Clinical Genetics
• Clinical Molecular Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Awards

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• CMS Meaningful Use Stage 1 Certification
• Elected Member
• Investigator Alumnus

Education

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• Johns Hopkins University
• Duke University School of Medicine

Hospital

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• Johns Hopkins Hospital

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