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Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

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Title: Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Authors: Kaiyrzhanov R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Mohammed SEM; Department of Biomedical Sciences, Institute of Physiology, Pathophysiology and Biophysics, University of Veterinary Medicine Vienna, Vienna 1210, Austria., Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Husain RA; Department of Neuropediatrics, Jena University Hospital, Jena 07747, Germany; Center for Rare Diseases, Jena University Hospital, Jena 07747, Germany., Catania A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy., Torraco A; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy., Alahmad A; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK; Kuwait Medical Genetics Centre, Al-Sabah Medical Area 80901, Kuwait., Dutra-Clarke M; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, the University of California at Los Angeles, Los Angeles, CA 90095, USA., Grønborg S; Center for Rare Diseases, Department of Pediatrics and Department of Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen 2100, Denmark., Sudarsanam A; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK., Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK., Arrigoni F; Paediatric Radiology and Neuroradiology Department, V. Buzzi Children's Hospital, Milan 20154, Italy., Baptista J; Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth PL4 8AA, UK., Haider S; Paediatrics Wah Medical College NUMS, Wah Cantonment, Punjab 44000, Pakistan., Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria., Bernardi P; Department of Biomedical Sciences, University of Padova, Via Ugo Bassi 58/B, Padova 35131, Italy., Zulian A; Department of Biomedical Sciences, University of Padova, Via Ugo Bassi 58/B, Padova 35131, Italy., Gusic M; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg 85764, Germany; DZHK (German Centre for Cardiovascular Research), Partner Site Munich Heart Alliance, Munich 81675, Germany; Institute of Human Genetics, Technical University of Munich, Munich 81675, Germany., Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Bai R; GeneDx Inc, Gaithersburg, MD 20877, USA., Bibi F; Institute of Biochemistry and Biotechnology, Pir Mehar Ali Shah Arid Agriculture University, Rawalpindi 44000, Pakistan., Horga A; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK; Neuromuscular Diseases Unit, Department of Neurology, Hospital Clinico San Carlos and San Carlos Health Research Institute (IdISSC), Madrid 28040, Spain., Martinez-Agosto JA; Department of Human Genetics, Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Lam A; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK; Department of Chemical Pathology, Great Ormond Street Hospital, WC1N 3BG London, UK., Manole A; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Rodriguez DP; Department of Clinical Movement Neurosciences, Royal Free Campus, University College of London, Queen Square Institute of Neurology, London WC1N 3BG, UK., Durigon R; Department of Clinical Movement Neurosciences, Royal Free Campus, University College of London, Queen Square Institute of Neurology, London WC1N 3BG, UK., Pyle A; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK., Albash B; Kuwait Medical Genetics Centre, Al-Sabah Medical Area 80901, Kuwait., Dionisi-Vici C; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Martinelli D; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy., Bugiardini E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Allis K; GeneDx Inc, Gaithersburg, MD 20877, USA., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy., Reipert S; Core Facility of Cell Imaging and Ultrastructure Research, University of Vienna, Djerassiplatz 1, 1030 Wien, Austria., Risom L; Department of Genetics, Copenhagen University Hospital Rigshospitalet Blegdamsvej, Copenhagen 2100, Denmark., Laugwitz L; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen 72076, Germany., Di Nottia M; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Vilarinho L; Unit of Neonatal Screening, Metabolism and Genetics, Department of Human Genetics, National Institute of Health Dr Ricardo Jorge, Porto 4000-055, Portugal., Hanna M; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Prokisch H; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg 85764, Germany; Institute of Human Genetics, Technical University of Munich, Munich 81675, Germany., Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria., Bertini ES; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy; Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy., Østergaard E; Department of Genetics, Copenhagen University Hospital Rigshospitalet Blegdamsvej, Copenhagen 2100, Denmark; Institute for Clinical Medicine, University of Copenhagen, Copenhagen 2200, Denmark., Wortmann SB; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg 85764, Germany; Institute of Human Genetics, Technical University of Munich, Munich 81675, Germany; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen 6525 EZ, the Netherlands., Carrozzo R; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy., Haack TB; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen 72076, Germany; Centre for Rare Diseases, University of Tuebingen, Tübingen 72076, Germany., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Spinazzola A; Department of Clinical Movement Neurosciences, Royal Free Campus, University College of London, Queen Square Institute of Neurology, London WC1N 3BG, UK., Nowikovsky K; Department of Biomedical Sciences, Institute of Physiology, Pathophysiology and Biophysics, University of Veterinary Medicine Vienna, Vienna 1210, Austria; Department of Internal Medicine I, ASCTR and Comprehensive Cancer Center, Medical University of Vienna, Vienna 1090, Austria. Electronic address: karin.nowikovsky@vetmeduni.ac.at., Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk.
Source: American journal of human genetics [Am J Hum Genet] 2022 Sep 01; Vol. 109 (9), pp. 1692-1712.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print 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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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
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  Data: <searchLink fieldCode="AU" term="%22Kaiyrzhanov+R%22">Kaiyrzhanov R</searchLink>; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Mohammed+SEM%22">Mohammed SEM</searchLink>; Department of Biomedical Sciences, Institute of Physiology, Pathophysiology and Biophysics, University of Veterinary Medicine Vienna, Vienna 1210, Austria.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Husain+RA%22">Husain RA</searchLink>; Department of Neuropediatrics, Jena University Hospital, Jena 07747, Germany; Center for Rare Diseases, Jena University Hospital, Jena 07747, Germany.<br /><searchLink fieldCode="AU" term="%22Catania+A%22">Catania A</searchLink>; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy.<br /><searchLink fieldCode="AU" term="%22Torraco+A%22">Torraco A</searchLink>; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy.<br /><searchLink fieldCode="AU" term="%22Alahmad+A%22">Alahmad A</searchLink>; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK; Kuwait Medical Genetics Centre, Al-Sabah Medical Area 80901, Kuwait.<br /><searchLink fieldCode="AU" term="%22Dutra-Clarke+M%22">Dutra-Clarke M</searchLink>; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, the University of California at Los Angeles, Los Angeles, CA 90095, USA.<br /><searchLink fieldCode="AU" term="%22Grønborg+S%22">Grønborg S</searchLink>; Center for Rare Diseases, Department of Pediatrics and Department of Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen 2100, Denmark.<br /><searchLink fieldCode="AU" term="%22Sudarsanam+A%22">Sudarsanam A</searchLink>; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK.<br /><searchLink fieldCode="AU" term="%22Vogt+J%22">Vogt J</searchLink>; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK.<br /><searchLink fieldCode="AU" term="%22Arrigoni+F%22">Arrigoni F</searchLink>; Paediatric Radiology and Neuroradiology Department, V. 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Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg 85764, Germany; DZHK (German Centre for Cardiovascular Research), Partner Site Munich Heart Alliance, Munich 81675, Germany; Institute of Human Genetics, Technical University of Munich, Munich 81675, Germany.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Bai+R%22">Bai R</searchLink>; GeneDx Inc, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Bibi+F%22">Bibi F</searchLink>; Institute of Biochemistry and Biotechnology, Pir Mehar Ali Shah Arid Agriculture University, Rawalpindi 44000, Pakistan.<br /><searchLink fieldCode="AU" term="%22Horga+A%22">Horga A</searchLink>; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK; Neuromuscular Diseases Unit, Department of Neurology, Hospital Clinico San Carlos and San Carlos Health Research Institute (IdISSC), Madrid 28040, Spain.<br /><searchLink fieldCode="AU" term="%22Martinez-Agosto+JA%22">Martinez-Agosto JA</searchLink>; Department of Human Genetics, Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.<br /><searchLink fieldCode="AU" term="%22Lam+A%22">Lam A</searchLink>; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK; Department of Chemical Pathology, Great Ormond Street Hospital, WC1N 3BG London, UK.<br /><searchLink fieldCode="AU" term="%22Manole+A%22">Manole A</searchLink>; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Rodriguez+DP%22">Rodriguez DP</searchLink>; Department of Clinical Movement Neurosciences, Royal Free Campus, University College of London, Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Durigon+R%22">Durigon R</searchLink>; Department of Clinical Movement Neurosciences, Royal Free Campus, University College of London, Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Pyle+A%22">Pyle A</searchLink>; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.<br /><searchLink fieldCode="AU" term="%22Albash+B%22">Albash B</searchLink>; Kuwait Medical Genetics Centre, Al-Sabah Medical Area 80901, Kuwait.<br /><searchLink fieldCode="AU" term="%22Dionisi-Vici+C%22">Dionisi-Vici C</searchLink>; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy.<br /><searchLink fieldCode="AU" term="%22Murphy+D%22">Murphy D</searchLink>; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Martinelli+D%22">Martinelli D</searchLink>; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy.<br /><searchLink fieldCode="AU" term="%22Bugiardini+E%22">Bugiardini E</searchLink>; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Allis+K%22">Allis K</searchLink>; GeneDx Inc, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Lamperti+C%22">Lamperti C</searchLink>; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy.<br /><searchLink fieldCode="AU" term="%22Reipert+S%22">Reipert S</searchLink>; Core Facility of Cell Imaging and Ultrastructure Research, University of Vienna, Djerassiplatz 1, 1030 Wien, Austria.<br /><searchLink fieldCode="AU" term="%22Risom+L%22">Risom L</searchLink>; Department of Genetics, Copenhagen University Hospital Rigshospitalet Blegdamsvej, Copenhagen 2100, Denmark.<br /><searchLink fieldCode="AU" term="%22Laugwitz+L%22">Laugwitz L</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Di+Nottia+M%22">Di Nottia M</searchLink>; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy.<br /><searchLink fieldCode="AU" term="%22McFarland+R%22">McFarland R</searchLink>; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.<br /><searchLink fieldCode="AU" term="%22Vilarinho+L%22">Vilarinho L</searchLink>; Unit of Neonatal Screening, Metabolism and Genetics, Department of Human Genetics, National Institute of Health Dr Ricardo Jorge, Porto 4000-055, Portugal.<br /><searchLink fieldCode="AU" term="%22Hanna+M%22">Hanna M</searchLink>; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Prokisch+H%22">Prokisch H</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg 85764, Germany; Institute of Human Genetics, Technical University of Munich, Munich 81675, Germany.<br /><searchLink fieldCode="AU" term="%22Mayr+JA%22">Mayr JA</searchLink>; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria.<br /><searchLink fieldCode="AU" term="%22Bertini+ES%22">Bertini ES</searchLink>; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy.<br /><searchLink fieldCode="AU" term="%22Ghezzi+D%22">Ghezzi D</searchLink>; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy; Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy.<br /><searchLink fieldCode="AU" term="%22Østergaard+E%22">Østergaard E</searchLink>; Department of Genetics, Copenhagen University Hospital Rigshospitalet Blegdamsvej, Copenhagen 2100, Denmark; Institute for Clinical Medicine, University of Copenhagen, Copenhagen 2200, Denmark.<br /><searchLink fieldCode="AU" term="%22Wortmann+SB%22">Wortmann SB</searchLink>; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg 85764, Germany; Institute of Human Genetics, Technical University of Munich, Munich 81675, Germany; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen 6525 EZ, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Carrozzo+R%22">Carrozzo R</searchLink>; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen 72076, Germany; Centre for Rare Diseases, University of Tuebingen, Tübingen 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Taylor+RW%22">Taylor RW</searchLink>; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.<br /><searchLink fieldCode="AU" term="%22Spinazzola+A%22">Spinazzola A</searchLink>; Department of Clinical Movement Neurosciences, Royal Free Campus, University College of London, Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Nowikovsky+K%22">Nowikovsky K</searchLink>; Department of Biomedical Sciences, Institute of Physiology, Pathophysiology and Biophysics, University of Veterinary Medicine Vienna, Vienna 1210, Austria; Department of Internal Medicine I, ASCTR and Comprehensive Cancer Center, Medical University of Vienna, Vienna 1090, Austria. Electronic address: karin.nowikovsky@vetmeduni.ac.at.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk.
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            NameFull: Albash B
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          Name:
            NameFull: Dionisi-Vici C
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          Name:
            NameFull: Murphy D
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          Name:
            NameFull: Martinelli D
      – PersonEntity:
          Name:
            NameFull: Bugiardini E
      – PersonEntity:
          Name:
            NameFull: Allis K
      – PersonEntity:
          Name:
            NameFull: Lamperti C
      – PersonEntity:
          Name:
            NameFull: Reipert S
      – PersonEntity:
          Name:
            NameFull: Risom L
      – PersonEntity:
          Name:
            NameFull: Laugwitz L
      – PersonEntity:
          Name:
            NameFull: Di Nottia M
      – PersonEntity:
          Name:
            NameFull: McFarland R
      – PersonEntity:
          Name:
            NameFull: Vilarinho L
      – PersonEntity:
          Name:
            NameFull: Hanna M
      – PersonEntity:
          Name:
            NameFull: Prokisch H
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            NameFull: Mayr JA
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          Name:
            NameFull: Bertini ES
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          Name:
            NameFull: Ghezzi D
      – PersonEntity:
          Name:
            NameFull: Østergaard E
      – PersonEntity:
          Name:
            NameFull: Wortmann SB
      – PersonEntity:
          Name:
            NameFull: Carrozzo R
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          Name:
            NameFull: Haack TB
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          Name:
            NameFull: Taylor RW
      – PersonEntity:
          Name:
            NameFull: Spinazzola A
      – PersonEntity:
          Name:
            NameFull: Nowikovsky K
      – PersonEntity:
          Name:
            NameFull: Houlden H
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 09
              Text: 2022 Sep 01
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 1537-6605
          Numbering:
            – Type: volume
              Value: 109
            – Type: issue
              Value: 9
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
ResultId 1