University of Alabama Hospital (Birmingham) Medical Biochemical Genetics

Topics

• Genomics and Rare Diseases 40
• Genetics and Neurodevelopmental Disorders 23
• Genomic variations and chromosomal abnormalities 21
• Prenatal Screening and Diagnostics 21
• Maternal and Perinatal Health Interventions 19
• Congenital heart defects research 16
• Craniofacial Disorders and Treatments 16
• BRCA gene mutations in cancer 15
• Cleft Lip and Palate Research 12
• Connective tissue disorders research 12
• Metabolism and Genetic Disorders 12
• Pregnancy and preeclampsia studies 12

Most cited

1. Attitudes Toward COVID-19 Illness and COVID-19 Vaccination among Pregnant Women: A Cross-Sectional Multicenter Study during August-December 2020.

   American journal of perinatology · 2022 · 98 citations · Akila Subramaniam

2. Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

   JAMA neurology · 2022 · 74 citations · Anna Hurst, Amitha Ananth

3. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

   The Journal of clinical investigation · 2024 · 43 citations · Anna Hurst

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 · Nathaniel Robin

5. Risk and Protective Factors for Preterm Birth Among Racial, Ethnic, and Socioeconomic Groups in California.

   JAMA network open · 2024 · 19 citations · Akila Subramaniam

6. Meta-analysis reveals the vaginal microbiome is a better predictor of earlier than later preterm birth.

   BMC biology · 2023 · 41 citations ·