Resident, Cincinnati Children's Hospital Medical Center
Medical Genetics
Dr. Robert B. Hufnagel, MD
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Robert B. Hufnagel is an expert in the field of Medical Genetics. He researched medicine at University of Cincinnati College of Medicine. Robert Hufnagel has written publications. He has 18 publications published with PubMed. The lastest publication is: 'A mutation disrupting TET1 activity alters the expression of genes critical for neural tube closure in the tuft mouse.'
Publications
- A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.
- Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation.
- A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.
- MAP3K1 function is essential for cyto-architecture of mouse organ of Corti and survival of auditory hair cells.
- Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
- Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia.
- Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
- Small bowel malrotation in distal 15q duplication: evidence for a rare association.
- A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.
- Planned Preterm Delivery and Treatment of Retinal Neovascularization in Norrie Disease.
- Human Cone Visual Pigment Deletions Spare Sufficient Photoreceptors to Warrant Gene Therapy.
- Heterochronic misexpression of Ascl1 in the Atoh7 retinal cell lineage blocks cell cycle exit.
- Gene therapy for Leber congenital amaurosis: advances and future directions.
- Neurog2 controls the leading edge of neurogenesis in the mammalian retina.
- Math5 expression and function in the central auditory system.
- Conserved regulation of Math5 and Math1 revealed by Math5-GFP transgenes.
- A mutation disrupting TET1 activity alters the expression of genes critical for neural tube closure in the tuft mouse.
Schools
University of Cincinnati Main Campus
Doctors Specialties
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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University of Cincinnati College of Medicine -
Cincinnati Children's Hospital Medical Center
Hospital
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Cincinnati Children's Hospital Medical Center
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