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Human Genetics

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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.

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.

Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center. Baker, EK; Ulm, EA; Belonis, A; Brightman, DS; Hallinan, BE; Leslie, ND; Miethke, AG; Vawter-Lee, M; Wu, Y; Pena, LD M. Frontiers in Genetics. 2022; 13:887698.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Ferdinandusse, S; McWalter, K; te Brinke, H; IJlst, L; Mooijer, PM; Ruiter, JP N; van Lint, AE M; Pras-Raves, M; Wever, E; Millan, F; et al. Genetics in Medicine. 2021; 23:740-750.

Open communication of Duchenne muscular dystrophy facilitates disclosure process by parents to unaffected siblings. Sulmonte, LA G; Bisordi, K; Ulm, E; Nusbaum, R. Journal of Genetic Counseling. 2021; 30:246-256.

The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2. Amir, F; Atzinger, C; Massey, K; Greinwald, J; Hunter, LL; Ulm, E; Kettler, M. Journal of Child Neurology. 2020; 35:283-290.

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