Ohio State University Medical Genetics and Genomics/Pediatrics

Topics

• Williams Syndrome Research 32
• Genomics and Rare Diseases 29
• Connective tissue disorders research 13
• Genomic variations and chromosomal abnormalities 12
• Prenatal Screening and Diagnostics 12
• BRCA gene mutations in cancer 9
• Congenital heart defects research 7
• Mitochondrial Function and Pathology 7
• Lysosomal Storage Disorders Research 6
• Metabolism and Genetic Disorders 6
• Preterm Birth and Chorioamnionitis 5
• Craniofacial Disorders and Treatments 3

Most cited

1. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

   Genetics in medicine : official journal of the American College of Medical Genetics · 2021 · 526 citations · Kandamurugu Manickam

2. GA4GH: International policies and standards for data sharing across genomic research and healthcare.

   Cell genomics · 2021 · 237 citations · Bimal Chaudhari

3. Williams syndrome.

   Nature reviews. Disease primers · 2021 · 177 citations · Beth Kozel

4. Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice.

   The Journal of clinical investigation · 2024 · 57 citations · Beth Kozel

5. A dyadic approach to the delineation of diagnostic entities in clinical genomics.

   American journal of human genetics · 2021 · 100 citations · Beth Kozel

6. Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.

   American journal of medical genetics. Part C, Seminars in medical genetics · 2022 · 51 citations · Bimal Chaudhari

7. A comparative evaluation of ChatGPT 3.5 and ChatGPT 4 in responses to selected genetics questions.

   Journal of the American Medical Informatics Association : JAMIA · 2024 · 21 citations · Beth Kozel

8. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

   American journal of medical genetics. Part A · 2021 · 64 citations · Kandamurugu Manickam