Kathleen Collins Ruff, LGC

Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic. Marsili, L; Duque, KR; Abanto, J; Chinchihualpa Paredes, NO; Duker, AP; Collins, K; Miranda, M; Bustamante, ML; Pauciulo, M; Dixon, M; Chaib, H; Perez-Maturo, J; Hill, EJ; Espay, AJ; Kauffman, MA. Biomedicines. 2024; 12:2673.

An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders. Rosenberg, A; Tian, C; He, H; Ulm, E; Collins Ruff, K; B. Nagaraj, C. American Journal of Medical Genetics, Part A. 2023; 191:2679-2692.

Comparison of genetic testing documentation between genetic counselors and non-genetic counselors. Feldman, J; Bhimarao Nagaraj, C; Collins, K; Wakefield, E; He, H; Myers, M; Wusik, K. Journal of Genetic Counseling. 2023; 32:635-645.

Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency. Staklinski, SJ; Chang, MC; Yu, F; Collins Ruff, K; Franz, DN; Qian, Z; Bloom, LB; Merritt, ME; McKenna, R; Kilberg, MS. The Journal of biological chemistry. 2022; 298:102385.

Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals. Webster, J; Wiley, S; Schorry, E; Bowers, K; Collins Ruff, K; Riddle, I. Journal of Genetic Counseling. 2022; 31:153-163.