University of Alabama Hospital (Birmingham) Molecular Genetic Pathology (Multidisciplinary)

Topics

• Genomics and Rare Diseases 35
• Genomic variations and chromosomal abnormalities 28
• Congenital heart defects research 19
• Craniofacial Disorders and Treatments 17
• BRCA gene mutations in cancer 14
• Genetics and Neurodevelopmental Disorders 13
• Cleft Lip and Palate Research 12
• Acute Myeloid Leukemia Research 11
• Cancer Genomics and Diagnostics 11
• Connective tissue disorders research 11
• Hearing, Cochlea, Tinnitus, Genetics 10
• Histiocytic Disorders and Treatments 10

Most cited

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

   JAMA neurology · 2022 · 74 citations · Anna Hurst

2. Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

   Science (New York, N.Y.) · 2024 · 42 citations · Marie Descartes

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. Normalization of cholesterol metabolism in spinal microglia alleviates neuropathic pain.

   The Journal of experimental medicine · 2021 · 91 citations · Ben Saylor

6. Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

   Genetics in medicine : official journal of the American College of Medical Genetics · 2022 · 53 citations ·