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Catherine Rehder | Researchclopedia

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Catherine Rehder

Duke University ORCID

127

Works

4,340

Citations

30

h-index

57

i10-index

Research Topics

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Genomics and Rare Diseases

Affiliations

Pediatric Oncology Group2012–2012

Duke University2009–2025

Museum of Heilongjiang Province2021–2021

Institute of Human Genetics2002–2002

Duke Institute for Health Innovation2025–2025

Top Works

A copy number variation morbidity map of developmental delay

Gregory M. Cooper,Bradley P. Coe,et al.

20111,391 citations

Genomic variations and chromosomal abnormalities

Chronic Lymphocytic Leukemia Research

Adriamycin-induced Senescence in Breast Tumor Cells Involves Functional p53 and Telomere Dysfunction

Lynne W. Elmore,Catherine Rehder,et al.

2002267 citations

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan,Wendy K. Chung,et al.

2019215 citations

American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

Catherine Rehder,Karen L. David,et al.

2013156 citations

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)

Catherine Rehder,Lora Jh Bean,et al.

2021129 citations

Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using <i>GAA</i> mutations: Lessons learned from 10 years of clinical laboratory testing experience

Deeksha Bali,Jennifer Goldstein,et al.

2012129 citations

Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT

Suhrad G. Banugaria,Sean N. Prater,et al.

2013110 citations

Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understanding

Susanne B. Haga,Rachel Mills,et al.

2014107 citations

Disruption of Fgf13 Causes Synaptic Excitatory-Inhibitory Imbalance and Genetic Epilepsy and Febrile Seizures Plus

Ram S. Puranam,Xiang He,et al.

201590 citations