Kathleen Collins Ruff, LGC
- Genetic Counselor III, Division of Human Genetics
Insurance Information
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Publications
Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic. Biomedicines. 2024; 12:2673.
An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders. American Journal of Medical Genetics, Part A. 2023; 191:2679-2692.
Comparison of genetic testing documentation between genetic counselors and non-genetic counselors. Journal of Genetic Counseling. 2023; 32:635-645.
Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency. The Journal of biological chemistry. 2022; 298:102385.
Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals. Journal of Genetic Counseling. 2022; 31:153-163.
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