Clinical Professor of Pediatrics, Ohio State University

Medical Genetics

Dennis Bartholomew works in the field of Medical Genetics. He went to medical school at Northwestern University Feinberg School of Medicine. Northwestern University Feinberg School of Medicine has a rank of 19 in research and a 29 in primary care He received 1 awards: "America's Top Doctors". Dennis Bartholomew has written publications. He has 18 publications published with PubMed. The lastest paper is: 'Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype.'

Publications

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• High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phen...
• Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
• Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome.
• m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening.
• Cranial Nerve and Cervical Root Enhancement in an Infant With Polymerase Gamma Mutation Mitochondrial Disease.
• MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.
• Docosahexaenoic Acid and Amino Acid Contents in Pasteurized Donor Milk are Low for Preterm Infants.
• Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization.
• Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
• Acute dilated cardiomyopathy in a patient with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase.
• Potential and pitfalls of NBS, and the reference lab's role.
• Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia.
• Cystic fibrosis--a genetic dilemma.
• Craniofacial-deafness-hand syndrome revisited.
• High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes.
• Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype.
• Prospective treatment of urea cycle disorders.

Schools

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• Northwestern University The Feinberg School Of Medicine

• David Grant Med Center

• Johns Hospital

Doctors Specialties

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• Clinical Biochemical Genetics
• Clinical Cytogenetics
• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Awards

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• America's Top Doctors

Education

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• Johns Hopkins University
• David Grant Medical Center
• Northwestern University Feinberg School of Medicine

Hospital

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• Nationwide Children's Hospital
• Ohio State University Wexner Medical Center

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