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Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.

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Title: Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
Authors: Efthymiou S; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Leo CP; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA., Deng C; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA., Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Maroofian R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Lin R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Karagoz I; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Zhang K; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA., Kaiyrzhanov R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Scardamaglia A; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Owrang D; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany., Turchetti V; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Jahnke F; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany., Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Derrick AV; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK., Rees MI; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK; Faculty of Medicine & Health, Camperdown, University of Sydney, Sydney, NSW, Australia., Alvi JR; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan., Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan., Li C; McMaster University, 1280 Main St W, Hamilton, ON L8S 4L8, Canada., Jacquemont ML; Unité de Génétique Médicale et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de la Réunion, Saint-Pierre, France., Tran-Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; INSERM UMR1231 GAD, F-21000 Dijon, France., Valenzuela-Palafoll M; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA., Yoon G; Hospital for Sick Children, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada., Morrow MM; GeneDx, LLC, Gaithersburg, MD 20877, USA., Carere DA; GeneDx, LLC, Gaithersburg, MD 20877, USA., O'Connor M; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA., Fleischer J; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA., Gerkes EH; Department of Medical Genetics, University of Groningen and University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital, Providence, RI, USA., Isidor B; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, Nantes, France; INSERM, CNRS, UNIV Nantes, L'institut du Thorax, Nantes, France., Rivier-Ringenbach C; Hôpital Nord-Ouest, Service de Neuropédiatrie, Villefranche sur Saône, France., Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; Laboratoire de Génétique, Hôpital Mercy, CHR Metz-Thionville, Metz, France., Kurul SH; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey; İzmir Biomedicine and Genome Center, Dokuz Eylül University Health Campus, İzmir, Turkey; İzmir International Biomedicine and Genome Institute, Dokuz Eylül University, İzmir, Turkey., Soydemir D; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey., Kara B; Division of Pediatric Neurology, Department of Pediatrics, Kocaeli University, Kocaeli, Turkey., Sunnetci-Akkoyunlu D; Department of Medical Genetics, Faculty of Medicine, Kocaeli University, Kocaeli, Turkey., Bothe V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Koch-Hogrebe M; Vestische Kinder- und Jugendklinik Datteln, Abteilung für Neuropädiatrie, Datteln, Germany., Rahner N; MVZ Institute for Clinical Genetics and Tumor Genetics, Bonn, Germany., Thuresson AC; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden., Matsson H; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden., Frykholm C; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden., Bozdoğan ST; VariantGen Genetic Diagnosis, Treatment, and Healthcare Center, Adana, Turkey., Bisgin A; Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Adana, Turkey; VariantGen Genetic Diagnosis, Treatment, and Healthcare Center, Adana, Turkey., Chatron N; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France., Lesca G; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France., Cabet S; Pediatric, Woman and Fetal Imaging Department, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, 69500 Bron, France; Institut NeuroMyoGène, CNRS UMR5292, INSERM U1028, Claude Bernard Lyon 1 University, 69000 Lyon, France., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Hjortshøj TD; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Rønde G; Department of Paediatrics and Adolescent Medicine, University Hospital Herlev, Herlev, Denmark., Marquardt T; Department of Paediatrics, Metabolic Diseases, University of Münster, Albert-Schweitzer-Campus 1, 48149 Münster, Germany., Reunert J; Department of Paediatrics, Metabolic Diseases, University of Münster, Albert-Schweitzer-Campus 1, 48149 Münster, Germany., Afzal E; Department of Developmental and Behavioral Pediatrics, Children's Hospital and Institute of Child Health, Multan, Punjab 60000, Pakistan., Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran., Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Nourbakhsh P; Department of Neurology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Chamanrou N; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran., Chung SK; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK; Brain & Mind Centre, Faculty of Medicine & Health, Camperdown, University of Sydney, Sydney, NSW, Australia; Kids Research, Children's Hospital at Westmead, Sydney, NSW, Australia., Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, NG5 1PB, UK., Benke PJ; Department of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Gleeson JG; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA, USA., Calame DG; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Pehlivan D; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Yilmaz HI; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey., Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey., Rad A; Arcensus GmbH, Rostock, Germany., Abumansour IS; Neurogenetic Section, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; Department of Pediatrics, International Medical Center, Jeddah, Saudi Arabia., Oprea G; Arcensus GmbH, Rostock, Germany., Bereketoğlu MB; Ege University Hospital, Department of Medical Genetics, İzmir 35100, Turkey., Banneau G; Department of Clinical Genetics, CHU Toulouse, Toulouse, France., Julia S; Department of Clinical Genetics, CHU Toulouse, Toulouse, France., Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran., Ashoori S; Department of Dermatology, School of Medicine, Jundishapur University of Medical Sciences, Ahvaz, Iran., Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Health Research Institute, Diabetes Research Center, Jundishapur University of Medical Sciences, Ahvaz, Iran., Sabri A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran., Parvas S; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran., Tajudin TA; KPJ Puteri Specialist Hospital, Hospital Sultan Ismail Johor, Johor Bahru, Malaysia., Abdullah U; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi 46301, Pakistan., Baig SM; National Institute for Biotechnology and Genetic Engineering College (NIBGE-C), Faisalabad, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan., Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Glazunova OO; IHU Méditerranée Infection, 19-21 boulevard Jean Moulin, 13005 Marseille, France., Sabine S; IHU Méditerranée Infection, 19-21 boulevard Jean Moulin, 13005 Marseille, France., Cheema HA; Department of Pediatric Gastroenterology, Hepatology and Genetic Diseases, Children's Hospital and University of Child Health Sciences, Lahore, Pakistan., Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Sidpra J; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London, UK., Mankad K; Department of Radiology, Great Ormond Street Hospital for Children, London, UK., Vona B; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany., Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XW, UK., Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Houlden H; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk., Fu D; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA. Electronic address: dragonyfu@rochester.edu.
Source: American journal of human genetics [Am J Hum Genet] 2025 May 01; Vol. 112 (5), pp. 1117-1138. Date of Electronic Publication: 2025 Apr 16.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Leo+CP%22">Leo CP</searchLink>; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA.<br /><searchLink fieldCode="AU" term="%22Deng+C%22">Deng C</searchLink>; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA.<br /><searchLink fieldCode="AU" term="%22Lin+SJ%22">Lin SJ</searchLink>; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Lin+R%22">Lin R</searchLink>; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Karagoz+I%22">Karagoz I</searchLink>; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Zhang+K%22">Zhang K</searchLink>; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA.<br /><searchLink fieldCode="AU" term="%22Kaiyrzhanov+R%22">Kaiyrzhanov R</searchLink>; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Scardamaglia+A%22">Scardamaglia A</searchLink>; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Owrang+D%22">Owrang D</searchLink>; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Turchetti+V%22">Turchetti V</searchLink>; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Jahnke+F%22">Jahnke F</searchLink>; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Huang+K%22">Huang K</searchLink>; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.<br /><searchLink fieldCode="AU" term="%22Petree+C%22">Petree C</searchLink>; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.<br /><searchLink fieldCode="AU" term="%22Derrick+AV%22">Derrick AV</searchLink>; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK.<br /><searchLink fieldCode="AU" term="%22Rees+MI%22">Rees MI</searchLink>; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK; Faculty of Medicine & Health, Camperdown, University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Alvi+JR%22">Alvi JR</searchLink>; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan.<br /><searchLink fieldCode="AU" term="%22Sultan+T%22">Sultan T</searchLink>; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan.<br /><searchLink fieldCode="AU" term="%22Li+C%22">Li C</searchLink>; McMaster University, 1280 Main St W, Hamilton, ON L8S 4L8, Canada.<br /><searchLink fieldCode="AU" term="%22Jacquemont+ML%22">Jacquemont ML</searchLink>; Unité de Génétique Médicale et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de la Réunion, Saint-Pierre, France.<br /><searchLink fieldCode="AU" term="%22Tran-Mau-Them+F%22">Tran-Mau-Them F</searchLink>; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; INSERM UMR1231 GAD, F-21000 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Valenzuela-Palafoll+M%22">Valenzuela-Palafoll M</searchLink>; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Sidlow+R%22">Sidlow R</searchLink>; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.<br /><searchLink fieldCode="AU" term="%22Yoon+G%22">Yoon G</searchLink>; Hospital for Sick Children, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Morrow+MM%22">Morrow MM</searchLink>; GeneDx, LLC, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Carere+DA%22">Carere DA</searchLink>; GeneDx, LLC, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22O'Connor+M%22">O'Connor M</searchLink>; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA.<br /><searchLink fieldCode="AU" term="%22Fleischer+J%22">Fleischer J</searchLink>; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA.<br /><searchLink fieldCode="AU" term="%22Gerkes+EH%22">Gerkes EH</searchLink>; Department of Medical Genetics, University of Groningen and University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Phornphutkul+C%22">Phornphutkul C</searchLink>; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital, Providence, RI, USA.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, Nantes, France; INSERM, CNRS, UNIV Nantes, L'institut du Thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Rivier-Ringenbach+C%22">Rivier-Ringenbach C</searchLink>; Hôpital Nord-Ouest, Service de Neuropédiatrie, Villefranche sur Saône, France.<br /><searchLink fieldCode="AU" term="%22Philippe+C%22">Philippe C</searchLink>; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; Laboratoire de Génétique, Hôpital Mercy, CHR Metz-Thionville, Metz, France.<br /><searchLink fieldCode="AU" term="%22Kurul+SH%22">Kurul SH</searchLink>; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey; İzmir Biomedicine and Genome Center, Dokuz Eylül University Health Campus, İzmir, Turkey; İzmir International Biomedicine and Genome Institute, Dokuz Eylül University, İzmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Soydemir+D%22">Soydemir D</searchLink>; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Kara+B%22">Kara B</searchLink>; Division of Pediatric Neurology, Department of Pediatrics, Kocaeli University, Kocaeli, Turkey.<br /><searchLink fieldCode="AU" term="%22Sunnetci-Akkoyunlu+D%22">Sunnetci-Akkoyunlu D</searchLink>; Department of Medical Genetics, Faculty of Medicine, Kocaeli University, Kocaeli, Turkey.<br /><searchLink fieldCode="AU" term="%22Bothe+V%22">Bothe V</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Platzer+K%22">Platzer K</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Wieczorek+D%22">Wieczorek D</searchLink>; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Koch-Hogrebe+M%22">Koch-Hogrebe M</searchLink>; Vestische Kinder- und Jugendklinik Datteln, Abteilung für Neuropädiatrie, Datteln, Germany.<br /><searchLink fieldCode="AU" term="%22Rahner+N%22">Rahner N</searchLink>; MVZ Institute for Clinical Genetics and Tumor Genetics, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Thuresson+AC%22">Thuresson AC</searchLink>; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.<br /><searchLink fieldCode="AU" term="%22Matsson+H%22">Matsson H</searchLink>; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.<br /><searchLink fieldCode="AU" term="%22Frykholm+C%22">Frykholm C</searchLink>; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.<br /><searchLink fieldCode="AU" term="%22Bozdoğan+ST%22">Bozdoğan ST</searchLink>; VariantGen Genetic Diagnosis, Treatment, and Healthcare Center, Adana, Turkey.<br /><searchLink fieldCode="AU" term="%22Bisgin+A%22">Bisgin A</searchLink>; Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Adana, Turkey; VariantGen Genetic Diagnosis, Treatment, and Healthcare Center, Adana, Turkey.<br /><searchLink fieldCode="AU" term="%22Chatron+N%22">Chatron N</searchLink>; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Cabet+S%22">Cabet S</searchLink>; Pediatric, Woman and Fetal Imaging Department, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, 69500 Bron, France; Institut NeuroMyoGène, CNRS UMR5292, INSERM U1028, Claude Bernard Lyon 1 University, 69000 Lyon, France.<br /><searchLink fieldCode="AU" term="%22Tümer+Z%22">Tümer Z</searchLink>; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Hjortshøj+TD%22">Hjortshøj TD</searchLink>; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Rønde+G%22">Rønde G</searchLink>; Department of Paediatrics and Adolescent Medicine, University Hospital Herlev, Herlev, Denmark.<br /><searchLink fieldCode="AU" term="%22Marquardt+T%22">Marquardt T</searchLink>; Department of Paediatrics, Metabolic Diseases, University of Münster, Albert-Schweitzer-Campus 1, 48149 Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Reunert+J%22">Reunert J</searchLink>; Department of Paediatrics, Metabolic Diseases, University of Münster, Albert-Schweitzer-Campus 1, 48149 Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Afzal+E%22">Afzal E</searchLink>; Department of Developmental and Behavioral Pediatrics, Children's Hospital and Institute of Child Health, Multan, Punjab 60000, Pakistan.<br /><searchLink fieldCode="AU" term="%22Zamani+M%22">Zamani M</searchLink>; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.<br /><searchLink fieldCode="AU" term="%22Azizimalamiri+R%22">Azizimalamiri R</searchLink>; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.<br /><searchLink fieldCode="AU" term="%22Galehdari+H%22">Galehdari H</searchLink>; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.<br /><searchLink fieldCode="AU" term="%22Nourbakhsh+P%22">Nourbakhsh P</searchLink>; Department of Neurology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.<br /><searchLink fieldCode="AU" term="%22Chamanrou+N%22">Chamanrou N</searchLink>; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.<br /><searchLink fieldCode="AU" term="%22Chung+SK%22">Chung SK</searchLink>; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK; Brain & Mind Centre, Faculty of Medicine & Health, Camperdown, University of Sydney, Sydney, NSW, Australia; Kids Research, Children's Hospital at Westmead, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Suri+M%22">Suri M</searchLink>; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, NG5 1PB, UK.<br /><searchLink fieldCode="AU" term="%22Benke+PJ%22">Benke PJ</searchLink>; Department of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA.<br /><searchLink fieldCode="AU" term="%22Zaki+MS%22">Zaki MS</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Gleeson+JG%22">Gleeson JG</searchLink>; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Calame+DG%22">Calame DG</searchLink>; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Pehlivan+D%22">Pehlivan D</searchLink>; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Yilmaz+HI%22">Yilmaz HI</searchLink>; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Gezdirici+A%22">Gezdirici A</searchLink>; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Rad+A%22">Rad A</searchLink>; Arcensus GmbH, Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Abumansour+IS%22">Abumansour IS</searchLink>; Neurogenetic Section, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; Department of Pediatrics, International Medical Center, Jeddah, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Oprea+G%22">Oprea G</searchLink>; Arcensus GmbH, Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Bereketoğlu+MB%22">Bereketoğlu MB</searchLink>; Ege University Hospital, Department of Medical Genetics, İzmir 35100, Turkey.<br /><searchLink fieldCode="AU" term="%22Banneau+G%22">Banneau G</searchLink>; Department of Clinical Genetics, CHU Toulouse, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Julia+S%22">Julia S</searchLink>; Department of Clinical Genetics, CHU Toulouse, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Zeighami+J%22">Zeighami J</searchLink>; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.<br /><searchLink fieldCode="AU" term="%22Ashoori+S%22">Ashoori S</searchLink>; Department of Dermatology, School of Medicine, Jundishapur University of Medical Sciences, Ahvaz, Iran.<br /><searchLink fieldCode="AU" term="%22Shariati+G%22">Shariati G</searchLink>; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.<br /><searchLink fieldCode="AU" term="%22Sedaghat+A%22">Sedaghat A</searchLink>; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Health Research Institute, Diabetes Research Center, Jundishapur University of Medical Sciences, Ahvaz, Iran.<br /><searchLink fieldCode="AU" term="%22Sabri+A%22">Sabri A</searchLink>; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.<br /><searchLink fieldCode="AU" term="%22Hamid+M%22">Hamid M</searchLink>; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Parvas+S%22">Parvas S</searchLink>; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.<br /><searchLink fieldCode="AU" term="%22Tajudin+TA%22">Tajudin TA</searchLink>; KPJ Puteri Specialist Hospital, Hospital Sultan Ismail Johor, Johor Bahru, Malaysia.<br /><searchLink fieldCode="AU" term="%22Abdullah+U%22">Abdullah U</searchLink>; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi 46301, Pakistan.<br /><searchLink fieldCode="AU" term="%22Baig+SM%22">Baig SM</searchLink>; National Institute for Biotechnology and Genetic Engineering College (NIBGE-C), Faisalabad, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Chung+WK%22">Chung WK</searchLink>; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Glazunova+OO%22">Glazunova OO</searchLink>; IHU Méditerranée Infection, 19-21 boulevard Jean Moulin, 13005 Marseille, France.<br /><searchLink fieldCode="AU" term="%22Sabine+S%22">Sabine S</searchLink>; IHU Méditerranée Infection, 19-21 boulevard Jean Moulin, 13005 Marseille, France.<br /><searchLink fieldCode="AU" term="%22Cheema+HA%22">Cheema HA</searchLink>; Department of Pediatric Gastroenterology, Hepatology and Genetic Diseases, Children's Hospital and University of Child Health Sciences, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Zifarelli+G%22">Zifarelli G</searchLink>; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Bauer+P%22">Bauer P</searchLink>; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Sidpra+J%22">Sidpra J</searchLink>; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22Mankad+K%22">Mankad K</searchLink>; Department of Radiology, Great Ormond Street Hospital for Children, London, UK.<br /><searchLink fieldCode="AU" term="%22Vona+B%22">Vona B</searchLink>; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Fry+AE%22">Fry AE</searchLink>; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XW, UK.<br /><searchLink fieldCode="AU" term="%22Varshney+GK%22">Varshney GK</searchLink>; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk.<br /><searchLink fieldCode="AU" term="%22Fu+D%22">Fu D</searchLink>; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA. Electronic address: dragonyfu@rochester.edu.
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  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2025 May 01; Vol. 112 (5), pp. 1117-1138. <i>Date of Electronic Publication: </i>2025 Apr 16.
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  Data: Journal Article; Research Support, N.I.H., Extramural
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.ajhg.2025.03.015
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        Text: English
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      – TitleFull: Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
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            NameFull: Glazunova OO
      – PersonEntity:
          Name:
            NameFull: Sabine S
      – PersonEntity:
          Name:
            NameFull: Cheema HA
      – PersonEntity:
          Name:
            NameFull: Zifarelli G
      – PersonEntity:
          Name:
            NameFull: Bauer P
      – PersonEntity:
          Name:
            NameFull: Sidpra J
      – PersonEntity:
          Name:
            NameFull: Mankad K
      – PersonEntity:
          Name:
            NameFull: Vona B
      – PersonEntity:
          Name:
            NameFull: Fry AE
      – PersonEntity:
          Name:
            NameFull: Varshney GK
      – PersonEntity:
          Name:
            NameFull: Houlden H
      – PersonEntity:
          Name:
            NameFull: Fu D
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 05
              Text: 2025 May 01
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1537-6605
          Numbering:
            – Type: volume
              Value: 112
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
ResultId 1