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A comprehensive framework for the interpretation of TTN missense variants.

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Title: A comprehensive framework for the interpretation of TTN missense variants.
Authors: Di Feo MF; Folkhälsan Research Center, Helsinki, Finland. mariafrancesca.difeo@helsinki.fi.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland. mariafrancesca.difeo@helsinki.fi.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. mariafrancesca.difeo@helsinki.fi., Rees M; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK., Lillback V; Folkhälsan Research Center, Helsinki, Finland., Kho AL; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK., Meybatova A; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK., Holt M; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK., Jungbluth H; Children's Neuroscience Centre, Evelina London Children's Hospital, Guy's and St, Thomas' Hospital NHS Foundation Trust, London, UK., Muntoni F; The Dubowitz Neuromuscular Unit, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre and Great Ormond Street Hospital NHS Foundation Trust, London, UK., Baranello G; The Dubowitz Neuromuscular Unit, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre and Great Ormond Street Hospital NHS Foundation Trust, London, UK., Sarkozy A; The Dubowitz Neuromuscular Unit, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre and Great Ormond Street Hospital NHS Foundation Trust, London, UK., Fiorillo C; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Baratto S; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Bruno C; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Traverso M; Medical Genetics Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy., Iacomino M; Medical Genetics Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy., Pedemonte M; Pediatric Neurology and Muscle Diseases Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy., Brolatti N; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Faravelli F; Clinical Genetics and Genomics Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy., Zara F; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Medical Genetics Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy., Mandarà GML; Maria Paternò Arezzo Hospital, Ragusa, Italy., Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Barraza-Flores P; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Rodolico C; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Schnabel F; University of Leipzig Medical Center, Leipzig, Germany., Balogh I; Faculty of Medicine, Department of Medical Genetics, University of Debrecen, Debrecen, Hungary., Szakszon K; Faculty of Medicine, Institute of Paediatrics, University of Debrecen, Debrecen, Hungary., Sarv S; Genetic and Personalized Medicine Clinic, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Õunap K; Genetic and Personalized Medicine Clinic, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Ricci FS; Department of Public Health and Pediatrics, University of Turin, Regina Margherita Children's Hospital, Turin, Italy., Mussa A; Department of Public Health and Pediatrics, University of Turin, Regina Margherita Children's Hospital, Turin, Italy., Malfatti E; Université Paris Est Créteil, Inserm U955, IMRB, Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, Créteil, France., Bertini ES; Research Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., D'Amico A; Research Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Diodato D; Research Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Catteruccia M; Research Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Ravenscroft G; Harry Perkins Institute of Medical Research, Nedlands, Australia., Johari M; Harry Perkins Institute of Medical Research, Nedlands, Australia., Kurbatov SA; Voronezh State Medical University, Voronezh, Russian Federation., Chausova P; Research Centre for Medical Genetics, Moscow, Russia., Murtazina A; Research Centre for Medical Genetics, Moscow, Russia., Kuchina A; Research Centre for Medical Genetics, Moscow, Russia., Shchagina O; Research Centre for Medical Genetics, Moscow, Russia., Drakos M; Neurology/Neurogenetics Laboratory, Medical School, University of Crete, Rethymno, Greece., Spilioti M; 1 st Neurology Department, AHEPA University Hospital, Thessaloniki, Greece., Evangeliou AE; Division of Child Neurology, St. Luke's Hospital, Thessaloniki, Greece., Zaganas I; Neurology Department, Medical School, University of Crete, Heraklion, Crete, Greece.; University Hospital of Heraklion, Heraklion, Crete, Greece., Zhong H; Huashan Rare Disease Centre and Department of Neurology, Huashan Hospital, Shanghai Medical College, National Centre for Neurological Disorders, Fudan University, Shanghai, 200040, China., Luo S; Huashan Rare Disease Centre and Department of Neurology, Huashan Hospital, Shanghai Medical College, National Centre for Neurological Disorders, Fudan University, Shanghai, 200040, China., Merlini L; Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136, Bologna, Italy., Nguyen CT; CHU Sainte-Justine, Montreal, QC, Canada., Tasca G; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, NE1 3BZ, UK., Reeves T; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, NE1 3BZ, UK., Mörner S; Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden., Danielsson O; Division of Neurology, Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping, Sweden., Udd B; Folkhälsan Research Center, Helsinki, Finland.; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland.; Vasa Central Hospital, Vaasa, Finland., Gautel M; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK., Savarese M; Folkhälsan Research Center, Helsinki, Finland.
Corporate Authors: T. T. N. study group
Source: Genome medicine [Genome Med] 2026 Feb 26; Vol. 18 (1). Date of Electronic Publication: 2026 Feb 26.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: <searchLink fieldCode="AU" term="%22Di+Feo+MF%22">Di Feo MF</searchLink>; Folkhälsan Research Center, Helsinki, Finland. mariafrancesca.difeo@helsinki.fi.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland. mariafrancesca.difeo@helsinki.fi.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. mariafrancesca.difeo@helsinki.fi.<br /><searchLink fieldCode="AU" term="%22Rees+M%22">Rees M</searchLink>; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK.<br /><searchLink fieldCode="AU" term="%22Lillback+V%22">Lillback V</searchLink>; Folkhälsan Research Center, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Kho+AL%22">Kho AL</searchLink>; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK.<br /><searchLink fieldCode="AU" term="%22Meybatova+A%22">Meybatova A</searchLink>; 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The Dubowitz Neuromuscular Unit, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre and Great Ormond Street Hospital NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Fiorillo+C%22">Fiorillo C</searchLink>; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Baratto+S%22">Baratto S</searchLink>; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Bruno+C%22">Bruno C</searchLink>; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Traverso+M%22">Traverso M</searchLink>; Medical Genetics Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Iacomino+M%22">Iacomino M</searchLink>; Medical Genetics Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Pedemonte+M%22">Pedemonte M</searchLink>; Pediatric Neurology and Muscle Diseases Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Brolatti+N%22">Brolatti N</searchLink>; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Faravelli+F%22">Faravelli F</searchLink>; Clinical Genetics and Genomics Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Zara+F%22">Zara F</searchLink>; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Medical Genetics Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Mandarà+GML%22">Mandarà GML</searchLink>; 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Research Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Ravenscroft+G%22">Ravenscroft G</searchLink>; Harry Perkins Institute of Medical Research, Nedlands, Australia.<br /><searchLink fieldCode="AU" term="%22Johari+M%22">Johari M</searchLink>; Harry Perkins Institute of Medical Research, Nedlands, Australia.<br /><searchLink fieldCode="AU" term="%22Kurbatov+SA%22">Kurbatov SA</searchLink>; Voronezh State Medical University, Voronezh, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Chausova+P%22">Chausova P</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Murtazina+A%22">Murtazina A</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kuchina+A%22">Kuchina A</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Shchagina+O%22">Shchagina O</searchLink>; 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Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.<br /><searchLink fieldCode="AU" term="%22Danielsson+O%22">Danielsson O</searchLink>; Division of Neurology, Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping, Sweden.<br /><searchLink fieldCode="AU" term="%22Udd+B%22">Udd B</searchLink>; Folkhälsan Research Center, Helsinki, Finland.; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland.; Vasa Central Hospital, Vaasa, Finland.<br /><searchLink fieldCode="AU" term="%22Gautel+M%22">Gautel M</searchLink>; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK.<br /><searchLink fieldCode="AU" term="%22Savarese+M%22">Savarese M</searchLink>; Folkhälsan Research Center, Helsinki, Finland.
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            NameFull: Catteruccia M
      – PersonEntity:
          Name:
            NameFull: Ravenscroft G
      – PersonEntity:
          Name:
            NameFull: Johari M
      – PersonEntity:
          Name:
            NameFull: Kurbatov SA
      – PersonEntity:
          Name:
            NameFull: Chausova P
      – PersonEntity:
          Name:
            NameFull: Murtazina A
      – PersonEntity:
          Name:
            NameFull: Kuchina A
      – PersonEntity:
          Name:
            NameFull: Shchagina O
      – PersonEntity:
          Name:
            NameFull: Drakos M
      – PersonEntity:
          Name:
            NameFull: Spilioti M
      – PersonEntity:
          Name:
            NameFull: Evangeliou AE
      – PersonEntity:
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            NameFull: Zaganas I
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            NameFull: Zhong H
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            NameFull: Luo S
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            NameFull: Merlini L
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            NameFull: Nguyen CT
      – PersonEntity:
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            NameFull: Tasca G
      – PersonEntity:
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            NameFull: Reeves T
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            NameFull: Mörner S
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            NameFull: Danielsson O
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            NameFull: Udd B
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          Dates:
            – D: 26
              M: 02
              Text: 2026 Feb 26
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1756-994X
          Numbering:
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              Value: 18
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Genome medicine
              Type: main
ResultId 1