University of Michigan Medical Biochemical Genetics

Topics

• Congenital Ear and Nasal Anomalies 43
• Metabolism and Genetic Disorders 26
• Genomic variations and chromosomal abnormalities 21
• Hearing, Cochlea, Tinnitus, Genetics 17
• Genomics and Rare Diseases 14
• Genetics and Neurodevelopmental Disorders 11
• Sexual Differentiation and Disorders 11
• Growth Hormone and Insulin-like Growth Factors 9
• Lysosomal Storage Disorders Research 9
• Telomeres, Telomerase, and Senescence 9
• Autism Spectrum Disorder Research 8
• Congenital heart defects research 8

Most cited

1. Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).

   Journal of inherited metabolic disease · 2025 · 22 citations · Ayesha Ahmad

2. Evaluation for genetic disease in kidney transplant candidates: A practice resource.

   American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons · 2025 · 17 citations · Elizabeth Ames

3. Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.

   Nutrients · 2021 · 55 citations · Ayesha Ahmad

4. A road map for the treatment of pediatric diffuse midline glioma.

   Cancer cell · 2024 · 27 citations · Donna Martin

5. Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study.

   Human mutation · 2021 · 47 citations · Donna Martin

6. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

   American journal of human genetics · 2024 · 23 citations · Elizabeth Ames