University of North Carolina Hospitals Medical Genetics and Genomics/Pediatrics

Topics

• Lysosomal Storage Disorders Research 91
• Hearing, Cochlea, Tinnitus, Genetics 39
• Genomics and Rare Diseases 28
• Metabolism and Genetic Disorders 24
• Glycogen Storage Diseases and Myoclonus 15
• Genomic variations and chromosomal abnormalities 13
• Genetic Syndromes and Imprinting 11
• Genetics and Neurodevelopmental Disorders 10
• Vascular Malformations and Hemangiomas 8
• Prenatal Screening and Diagnostics 7
• RNA and protein synthesis mechanisms 6
• Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 5

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

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

3. 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

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

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

5. Sanfilippo syndrome: consensus guidelines for clinical care.

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

6. First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B.

   Molecular therapy : the journal of the American Society of Gene Therapy · 2022 · 65 citations · Joseph Muenzer