Chinmayee Bhimarao Nagaraj, LGC

Reclassification of intragenic DMD gene duplications by optical genome mapping resolves uncertainty and improves clinical management. Seiwert, EU; Shi, X; Coyan, A; Crawford, S; Husami, A; Tian, C; Zygmunt, A; Kushlaf, H; Liu, J; Nagaraj, CB. Neuromuscular Disorders. 2026; 60:106335.

RNA Sequencing Confirms the Pathogenicity of a Novel FHL1 Deletion in a Kinship With Emery-Dreifuss Muscular Dystrophy. Nagaraj, CB; Tian, C; Kushlaf, H. Journal of Clinical Neuromuscular Disease. 2025; 26(3):148-151.

Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors. Pickart, AM; Martin, AS; Gross, BN; Dellefave-Castillo, LM; Mccallen, LM; Nagaraj, CB; Rippert, AL; Schultz, CP; Ulm, EA; Armstrong, N. Journal of Genetic Counseling. 2025; 34(1):e1892.

Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome. Mochizuki, AY; Nagaraj, CB; Depoorter, D; Schieffer, KM; Kim, SY. American Journal of Medical Genetics, Part A. 2024; 194(10):e63788.

Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3. Nagaraj, CB; Brightman, DS; Rea, H; Wakefield, E; Harkavy, NVG; Dyer, L; Zhang, W. BMC Pediatrics. 2024; 24(1):34.

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.

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.

Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49-51 deletion phenotype. Ulm, EA; Nagaraj, CB; Tian, C; Smolarek, TA. Molecular Genetics & Genomic Medicine. 2023; 11(1):e2088.

Understanding and interpretation of a variant of uncertain significance (VUS) genetic test result by pediatric providers who do not specialize in genetics. Menke, C; Nagaraj, CB; Dawson, B; He, H; Tawde, S; Wakefield, EG. Journal of Genetic Counseling. 2021; 30(6):1559-1569.

Adverse Events in Genetic Testing: The Fourth Case Series. Farmer, MB; Bonadies, DC; Mahon, SM; Baker, MJ; Ghate, SM; Munro, C; Nagaraj, CB; Besser, AG; Bui, K; Csuy, CM; Sebastian, J; Sternen, DL; Walsh, LK; Matloff, ET. Cancer journal (Sudbury, Mass.). 2019; 25(4):231-236.