Cincinnati Children's Hospital Medical Center Medical Genetics and Genomics

Topics

• Genomics and Rare Diseases 82
• Lysosomal Storage Disorders Research 64
• Down syndrome and intellectual disability research 52
• Neurofibromatosis and Schwannoma Cases 51
• Genomic variations and chromosomal abnormalities 41
• Ocular Disorders and Treatments 40
• Retinal Development and Disorders 39
• Metabolism and Genetic Disorders 33
• Genetics and Neurodevelopmental Disorders 27
• Congenital Diaphragmatic Hernia Studies 19
• Congenital heart defects research 17
• Genetic Syndromes and Imprinting 16

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 · Stephanie Santoro, 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. Data-driven consideration of genetic disorders for global genomic newborn screening programs.

   Genetics in medicine : official journal of the American College of Medical Genetics · 2025 · 44 citations · Bianca Russell

5. Congenital Hypothyroidism: Screening and Management.

   Pediatrics · 2023 · 91 citations · Robert Hopkin

6. Congenital Hypothyroidism: Screening and Management.

   Pediatrics · 2023 · 54 citations ·