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(12).

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(11):2679-2692.

P180 A retrospective chart review evaluating clinical presentation and genetic testing approaches for patients with neuromuscular disorders. Rosenberg, A; Tian, C; He, H; Ulm, E; Collins, K; Nagaraj, CB. Neuromuscular Disorders. 2023; 33:s110.

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(3):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. Journal of Biological Chemistry. 2022; 298(9):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(1):153-163.

Pediatric Whole Exome Sequencing: an Assessment of Parents' Perceived and Actual Understanding. Tolusso, LK; Collins, K; Zhang, X; Holle, JR; Valencia, CA; Myers, MF. Journal of Genetic Counseling. 2017; 26(4):792-805.

Clinical delineation of the PACS1-related syndrome--Report on 19 patients. Schuurs-Hoeijmakers, JHM; Landsverk, ML; Foulds, N; Kukolich, MK; Gavrilova, RH; Greville-Heygate, S; Hanson-Kahn, A; Bernstein, JA; Glass, J; Chitayat, D; De Vries, BBA; Devriendt, K; Hurles, ME; Brunner, HG. American Journal of Medical Genetics, Part A. 2016; 170(3):670-675.

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience. Valencia, CA; Husami, A; Holle, J; Johnson, JA; Qian, Y; Mathur, A; Wei, C; Indugula, SR; Zou, F; Meng, H; Keddache, M; Harley, JB; Kaufman, KM; Zhang, K. Frontiers in Pediatrics. 2015; 3:67.

Provision of cardiovascular genetic counseling services: current practice and future directions. Somers, AE; Ware, SM; Collins, K; Jefferies, JL; He, H; Miller, EM. Journal of Genetic Counseling. 2014; 23(6):976-983.