Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics.
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| Title: | Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics. |
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| Authors: | Teker B; Institute of Health Sciences, Istanbul University, 34452 Fatih, Türkiye., Akan G; Research Center of Experimental Health Sciences, Near East University, 99138 Mersin, Türkiye., Kazan HH; Department of Medical Biology, Gulhane Faculty of Medicine, University of Health Sciences, 06018 Ankara, Türkiye., Özgen Ö; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye., Tatonyan S; Institute of Health Sciences, Istanbul University, 34452 Fatih, Türkiye., Balci MC; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Division of Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye., Karaca M; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Division of Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye., Kurekci F; Division of Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye., Yıldız EP; Division of Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye., Güngor O; Neurology Unit, Department of Pediatrics, Pamukkale University, 20160 Pamukkale, Türkiye., Deniz A; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Neurology Unit, Department of Pediatrics, Medical School, Kocaeli University, 41001 Kocaeli, Türkiye., Gedikbasi A; Department of Pediatric Basic Sciences, Institute of Child Health, Istanbul University, 34452 Fatih, Türkiye., Atalar F; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Department of Rare Diseases, Institute of Child Health, Istanbul University, 34452 Fatih, Türkiye., Gokcay GF; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Division of Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye., Poda M; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Department of Rare Diseases, Institute of Child Health, Istanbul University, 34452 Fatih, Türkiye.; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, 34452 Fatih, Türkiye. |
| Source: | International journal of molecular sciences [Int J Mol Sci] 2025 May 23; Vol. 26 (11). Date of Electronic Publication: 2025 May 23. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1422-0067 |
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| DOI: | 10.3390/ijms26115037 |
