University of Colorado Medical Biochemical Genetics

Topics

• Metabolism and Genetic Disorders 133
• Mitochondrial Function and Pathology 48
• Genomics and Rare Diseases 26
• Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 25
• Lysosomal Storage Disorders Research 24
• Genetic Syndromes and Imprinting 17
• Folate and B Vitamins Research 14
• Genetics and Neurodevelopmental Disorders 13
• Genomic variations and chromosomal abnormalities 11
• Glycosylation and Glycoproteins Research 10
• Prenatal Screening and Diagnostics 9
• Glycogen Storage Diseases and Myoclonus 7

Most cited

1. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.

   American journal of human genetics · 2021 · 214 citations · Aaina Kochhar

2. Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.

   Neurology · 2023 · 66 citations · Johan Van Hove

3. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.

   Journal of inherited metabolic disease · 2021 · 92 citations · Johan Van Hove

4. Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.

   Molecular genetics and metabolism reports · 2024 · 30 citations · Janet Thomas

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

   JAMA neurology · 2022 · 74 citations · Kaitlin Angione

6. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

   Genetics in medicine : official journal of the American College of Medical Genetics · 2022 · 58 citations ·