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Publications

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.

Reduction of Health Care Costs and Improved Appropriateness of Incoming Test Orders: the Impact of Genetic Counselor Review in an Academic Genetic Testing Laboratory. Wakefield, E; Keller, H; Mianzo, H; Nagaraj, CB; Tawde, S; Ulm, E. Journal of Genetic Counseling. 2018; 27:1067-1073.