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, NV G; Dyer, L; Zhang, W. BMC Pediatrics. 2024; 24:34.

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:e63788.

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.

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 and Genomic Medicine. 2023; 11: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; 30:1559-1569.