Cincinnati Children's Hospital Medical Center Medical Genetics and Genomics/Pediatrics

Topics

• Genomics and Rare Diseases 61
• Lysosomal Storage Disorders Research 61
• Neurofibromatosis and Schwannoma Cases 51
• Genomic variations and chromosomal abnormalities 34
• Ocular Disorders and Treatments 28
• Metabolism and Genetic Disorders 23
• Congenital Diaphragmatic Hernia Studies 18
• Genetics and Neurodevelopmental Disorders 18
• Congenital heart defects research 15
• Craniofacial Disorders and Treatments 14
• BRCA gene mutations in cancer 13
• Genetic Syndromes and Imprinting 13

Most cited

1. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

   Genetics in medicine : official journal of the American College of Medical Genetics · 2021 · 627 citations · Elizabeth Schorry

2. Health Supervision for Children and Adolescents With Down Syndrome.

   Pediatrics · 2022 · 229 citations · Robert Hopkin

3. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.

   Genetics in medicine : official journal of the American College of Medical Genetics · 2022 · 234 citations · Elizabeth Schorry

4. Congenital Hypothyroidism: Screening and Management.

   Pediatrics · 2023 · 91 citations · Robert Hopkin

5. Congenital Hypothyroidism: Screening and Management.

   Pediatrics · 2023 · 54 citations · Robert Hopkin

6. Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.

   Journal of medical genetics · 2024 · 42 citations · Robert Hopkin