P653: Introns to insights: The transformative power of RNA sequencing in the diagnosis of rare genetic disorders
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| Main Authors: | , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425010611 |
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| _version_ | 1849711857130012672 |
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| author | Robert Lewis Ting Wen John O'Shea Jian Zhao Steven Boyden Caleb Hocutt Erin Baldwin Jennie Vagher Ashley Andrews Thomas Nicholas Alexander Chapin Elaine Fan Jessica Meznarich David Viskochil Lorenzo Botto Pinar Bayrak-Toydemir Rong Mao |
| author_facet | Robert Lewis Ting Wen John O'Shea Jian Zhao Steven Boyden Caleb Hocutt Erin Baldwin Jennie Vagher Ashley Andrews Thomas Nicholas Alexander Chapin Elaine Fan Jessica Meznarich David Viskochil Lorenzo Botto Pinar Bayrak-Toydemir Rong Mao |
| author_sort | Robert Lewis |
| collection | DOAJ |
| format | Article |
| id | doaj-art-0171e8d91d2e4519a9fc8e3b573001f9 |
| institution | DOAJ |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-0171e8d91d2e4519a9fc8e3b573001f92025-08-20T03:14:31ZengElsevierGenetics in Medicine Open2949-77442025-01-01310302210.1016/j.gimo.2025.103022P653: Introns to insights: The transformative power of RNA sequencing in the diagnosis of rare genetic disordersRobert Lewis0Ting Wen1John O'Shea2Jian Zhao3Steven Boyden4Caleb Hocutt5Erin Baldwin6Jennie Vagher7Ashley Andrews8Thomas Nicholas9Alexander Chapin10Elaine Fan11Jessica Meznarich12David Viskochil13Lorenzo Botto14Pinar Bayrak-Toydemir15Rong Mao16Department of Pathology, University of Utah, ARUP LaboratoriesHenry Ford HealthDepartment of Pathology, University of Utah, ARUP LaboratoriesDepartment of Pathology, University of Utah, ARUP LaboratoriesDepartment of Human Genetics, Utah Center for Genetic Discovery, University of UtahDepartment of Pediatrics, Division of Pediatric Hematology and Oncology, University of UtahDepartment of Pediatrics, Division of Medical Genetics, University of UtahHuntsman Cancer Institute, University of UtahDepartment of Pediatrics, Division of Medical Genetics, University of UtahDepartment of Human Genetics, Utah Center for Genetic Discovery, University of UtahARUP LaboratoriesDepartment of Pediatrics, Division of Pediatric Hematology and Oncology, University of UtahDepartment of Pediatrics, Division of Pediatric Hematology and Oncology, University of UtahDepartment of Pediatrics, Division of Medical Genetics, University of UtahDepartment of Pediatrics, Division of Medical Genetics, University of UtahDepartment of Pathology, University of Utah, ARUP LaboratoriesDepartment of Pathology, University of Utah, ARUP Laboratorieshttp://www.sciencedirect.com/science/article/pii/S2949774425010611 |
| spellingShingle | Robert Lewis Ting Wen John O'Shea Jian Zhao Steven Boyden Caleb Hocutt Erin Baldwin Jennie Vagher Ashley Andrews Thomas Nicholas Alexander Chapin Elaine Fan Jessica Meznarich David Viskochil Lorenzo Botto Pinar Bayrak-Toydemir Rong Mao P653: Introns to insights: The transformative power of RNA sequencing in the diagnosis of rare genetic disorders Genetics in Medicine Open |
| title | P653: Introns to insights: The transformative power of RNA sequencing in the diagnosis of rare genetic disorders |
| title_full | P653: Introns to insights: The transformative power of RNA sequencing in the diagnosis of rare genetic disorders |
| title_fullStr | P653: Introns to insights: The transformative power of RNA sequencing in the diagnosis of rare genetic disorders |
| title_full_unstemmed | P653: Introns to insights: The transformative power of RNA sequencing in the diagnosis of rare genetic disorders |
| title_short | P653: Introns to insights: The transformative power of RNA sequencing in the diagnosis of rare genetic disorders |
| title_sort | p653 introns to insights the transformative power of rna sequencing in the diagnosis of rare genetic disorders |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425010611 |
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