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RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases.

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Title: RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases.
Authors: Lewis RG; ARUP Laboratories, Salt Lake City, UT, 84108, USA.; Department of Pathology, University of Utah, Salt Lake City, UT, 84112, USA., O'Shea JM; ARUP Laboratories, Salt Lake City, UT, 84108, USA.; Department of Pathology, University of Utah, Salt Lake City, UT, 84112, USA., Pizzo L; ARUP Laboratories, Salt Lake City, UT, 84108, USA.; Department of Pathology, University of Utah, Salt Lake City, UT, 84112, USA., Wen T; ARUP Laboratories, Salt Lake City, UT, 84108, USA.; Department of Pathology, University of Utah, Salt Lake City, UT, 84112, USA.; Present Address: Department of Pathology, Henry Ford Hospital, Detroit, MI, 48202, USA., Fulmer ML; ARUP Laboratories, Salt Lake City, UT, 84108, USA.; Department of Pathology, University of Utah, Salt Lake City, UT, 84112, USA., Zhao J; ARUP Laboratories, Salt Lake City, UT, 84108, USA.; Department of Pathology, University of Utah, Salt Lake City, UT, 84112, USA., Verheijen J; ARUP Laboratories, Salt Lake City, UT, 84108, USA.; Department of Pathology, University of Utah, Salt Lake City, UT, 84112, USA., Zhang C; ARUP Laboratories, Salt Lake City, UT, 84108, USA.; Department of Pathology, University of Utah, Salt Lake City, UT, 84112, USA., Velinder M; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, UT, 84112, USA., Nicholas TJ; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, UT, 84112, USA., Boyden SE; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, UT, 84112, USA., Ward A; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, UT, 84112, USA., Baldwin EE; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, 84112, USA., Andrews A; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, 84112, USA., Ruiz JH; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, UT, 84112, USA., Marchetti M; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, UT, 84112, USA., Viskochil D; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, 84112, USA., Carey JC; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, 84112, USA., Bleyl SB; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, 84112, USA., Butterfield RJ; Division of Pediatric Neurology, University of Utah, Salt Lake City, UT, 84112, USA., Taliercio V; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, 84112, USA., Botto LD; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, 84112, USA., Mao R; ARUP Laboratories, Salt Lake City, UT, 84108, USA.; Department of Pathology, University of Utah, Salt Lake City, UT, 84112, USA., Bayrak-Toydemir P; ARUP Laboratories, Salt Lake City, UT, 84108, USA. pinar.bayrak-toydemir@aruplab.com.; Department of Pathology, University of Utah, Salt Lake City, UT, 84112, USA. pinar.bayrak-toydemir@aruplab.com.
Corporate Authors: Undiagnosed Diseases Network
Source: BMC medical genomics [BMC Med Genomics] 2025 Nov 14; Vol. 18 (1), pp. 182. Date of Electronic Publication: 2025 Nov 14.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
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  Data: <searchLink fieldCode="JN" term="%22101319628%22">BMC medical genomics</searchLink> [BMC Med Genomics] 2025 Nov 14; Vol. 18 (1), pp. 182. <i>Date of Electronic Publication: </i>2025 Nov 14.
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