Catherine Rehder
Duke University(US)Duke Institute for Health Innovation(US)Duke Medical Center(US)Duke University Health System(US)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Chronic Lymphocytic Leukemia Research
Most-Cited Works
- → A copy number variation morbidity map of developmental delay(2011)1,390 cited
- → Adriamycin-induced Senescence in Breast Tumor Cells Involves Functional p53 and Telomere Dysfunction(2002)267 cited
- → Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)(2019)214 cited
- → American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing(2013)156 cited
- → Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience(2012)129 cited
- → Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)