Medical College of Wisconsin Affiliated Hospitals Medical Genetics and Genomics

Topics

• Connective tissue disorders research 15
• Genomics and Rare Diseases 14
• Metabolism and Genetic Disorders 12
• Congenital Diaphragmatic Hernia Studies 7
• Genetics and Neurodevelopmental Disorders 6
• Trauma and Emergency Care Studies 6
• Trauma, Hemostasis, Coagulopathy, Resuscitation 6
• Abdominal Trauma and Injuries 5
• Neurofibromatosis and Schwannoma Cases 4
• Clinical Reasoning and Diagnostic Skills 3
• Congenital heart defects research 3
• Congenital limb and hand anomalies 3

Most cited

1. Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.

   The Lancet. Child & adolescent health · 2024 · 64 citations · Donald Basel

2. Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.

   Journal of medical genetics · 2024 · 42 citations · Michael Muriello

3. Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.

   The Lancet. Oncology · 2024 · 64 citations · Donald Basel

4. Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.

   Genetics in medicine : official journal of the American College of Medical Genetics · 2021 · 82 citations · Donald Basel

5. Methylation signatures as biomarkers for non-invasive early detection of breast cancer: A systematic review of the literature.

   Cancer genetics · 2024 · 45 citations · Donald Basel

6. Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance.

   Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2021 · 82 citations · Donald Basel

7. Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.

   International journal of neonatal screening · 2022 · 26 citations · Jessica Schwoerer

8. The impact of clinical genome sequencing in a global population with suspected rare genetic disease.

   American journal of human genetics · 2024 · 18 citations · Donald Basel