University of North Carolina Hospitals Medical Genetics and Genomics

Topics

• Lysosomal Storage Disorders Research 91
• Genomics and Rare Diseases 43
• Hearing, Cochlea, Tinnitus, Genetics 39
• Metabolism and Genetic Disorders 24
• Genomic variations and chromosomal abnormalities 15
• Glycogen Storage Diseases and Myoclonus 15
• Genetic Syndromes and Imprinting 11
• Genetics and Neurodevelopmental Disorders 10
• Prenatal Screening and Diagnostics 8
• Vascular Malformations and Hemangiomas 8
• BRCA gene mutations in cancer 7
• RNA and protein synthesis mechanisms 6

Most cited

1. Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.

   JAMA · 2023 · 68 citations · Cynthia Powell

2. Mondo: integrating disease terminology across communities.

   Genetics · 2026 · 23 citations · Bradford Powell

3. An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II.

   The New England journal of medicine · 2026 · 8 citations · Joseph Muenzer

4. Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

   Genetics in medicine : official journal of the American College of Medical Genetics · 2022 · 56 citations · Arti Pandya

5. A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.

   Molecular genetics & genomic medicine · 2022 · 53 citations · Elizabeth Jalazo

6. Sanfilippo syndrome: consensus guidelines for clinical care.

   Orphanet journal of rare diseases · 2022 · 41 citations · Joseph Muenzer