View in EDS

A novel spliceosomopathy caused by de novo SF3B3 variants.

Saved in:
Bibliographic Details
Title: A novel spliceosomopathy caused by de novo SF3B3 variants.
Authors: Musante L; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy. luciana.musante@burlo.trieste.it., Janos P; CNR - Istituto Officina dei Materiali (IOM) c/o International School for Advanced Studies (SISSA), Via Bonomea 265, Trieste, 34136, Italy., Pianigiani G; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy., Cappelli S; Molecular Pathology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, 34149, Italy., Longo A; Molecular Pathology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, 34149, Italy., Alves C; FDNA, Boston, MA, USA., Schwaibold EM; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Wagner M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Division of Paediatric Neurology, Developmental Neurology, and Social Pediatrics, Dr von Hauner Children's Hospital, Munich, Germany., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Departments of Paediatrics and of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Fridriksdottir R; deCODE genetics/Amgen Inc, Reykjavik, Iceland., Stefansson K; deCODE genetics/Amgen Inc, Reykjavik, Iceland., Sulem P; deCODE genetics/Amgen Inc, Reykjavik, Iceland., Lichtenbelt KD; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, 10126, Italy.; Unit of Medical Genetics, Città della Salute e della Scienza University Hospital, Turin, 10126, Italy., Pavinato L; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, 10126, Italy.; Institute of Oncology Research (IOR), Bellinzona Institutes of Science (BIOS+), Bellinzona, 6500, Switzerland.; Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano, 6900, Switzerland., Biamino E; Department of Pediatrics, Regina Margherita Children's Hospital, Turin, Italy., Spano A; Department of Pediatrics, Regina Margherita Children's Hospital, Turin, Italy., Hildebrandt CC; Department of Pediatrics, Division of Genetics and Genomics, University of North Carolina, Chapel Hill, NC, USA., Chan YM; Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Groopman E; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Berkenstadt M; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel., Koboldt D; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA., Williamson R; Akron Children's Hospital, One Perkins Square, Akron, OH, 44308, USA., Brunner HG; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Vissers LE; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., Torring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Hao Q; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Gelb BD; Mindich Child Health and Development Institute, Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Goldmuntz E; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA., Reed K; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bedoukian EC; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Vecchio D; Rare Disease and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Salzano E; Division of Medical Genetics, AOOR Villa Sofia-Cervello, Palermo, Italy., Piccione M; Division of Medical Genetics, AOOR Villa Sofia-Cervello, Palermo, Italy.; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy., Zanus C; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy., Mio C; Department of Medicine (DMED), University of Udine, Udine, Italy., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, 98195, USA., Wang T; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, 100191, China.; Neuroscience Research Institute, Key Laboratory for Neuroscience, Peking University, Ministry of Education of China & National Health Commission of China, Beijing, 100191, China.; Autism Research Center, Peking University Health Science Center, Beijing, 100191, China., Patterson WG; Greenwood Genetic Center, Greenwood, SC, USA., Butler KM; Greenwood Genetic Center, Greenwood, SC, USA., Piotrowski M; Greenwood Genetic Center, Greenwood, SC, USA., Mercier S; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, F-44000, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, F-44000, France., Cogné B; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, F-44000, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, F-44000, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-sequoia.fr), Paris, France., Wentzensen IM; GeneDx LLC, Gaithersburg, MD, 20877, USA., Buratti E; Molecular Pathology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, 34149, Italy., Magistrato A; CNR - Istituto Officina dei Materiali (IOM) c/o International School for Advanced Studies (SISSA), Via Bonomea 265, Trieste, 34136, Italy., Faletra F; Department of Medicine (DMED), University of Udine, Udine, Italy. flavio.faletra@asufc.sanita.fvg.it.; Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy. flavio.faletra@asufc.sanita.fvg.it.
Source: Genome medicine [Genome Med] 2026 Feb 19; Vol. 18 (1). Date of Electronic Publication: 2026 Feb 19.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41709284
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: A novel spliceosomopathy caused by de novo SF3B3 variants.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Musante+L%22">Musante L</searchLink>; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy. luciana.musante@burlo.trieste.it.<br /><searchLink fieldCode="AU" term="%22Janos+P%22">Janos P</searchLink>; CNR - Istituto Officina dei Materiali (IOM) c/o International School for Advanced Studies (SISSA), Via Bonomea 265, Trieste, 34136, Italy.<br /><searchLink fieldCode="AU" term="%22Pianigiani+G%22">Pianigiani G</searchLink>; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Cappelli+S%22">Cappelli S</searchLink>; Molecular Pathology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, 34149, Italy.<br /><searchLink fieldCode="AU" term="%22Longo+A%22">Longo A</searchLink>; Molecular Pathology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, 34149, Italy.<br /><searchLink fieldCode="AU" term="%22Alves+C%22">Alves C</searchLink>; FDNA, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Schwaibold+EM%22">Schwaibold EM</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Wagner+M%22">Wagner M</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Division of Paediatric Neurology, Developmental Neurology, and Social Pediatrics, Dr von Hauner Children's Hospital, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Costain+G%22">Costain G</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Departments of Paediatrics and of Molecular Genetics, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Fridriksdottir+R%22">Fridriksdottir R</searchLink>; deCODE genetics/Amgen Inc, Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Stefansson+K%22">Stefansson K</searchLink>; deCODE genetics/Amgen Inc, Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Sulem+P%22">Sulem P</searchLink>; deCODE genetics/Amgen Inc, Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Lichtenbelt+KD%22">Lichtenbelt KD</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Binsbergen+E%22">van Binsbergen E</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Jaarsveld+RH%22">van Jaarsveld RH</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Brusco+A%22">Brusco A</searchLink>; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, 10126, Italy.; Unit of Medical Genetics, Città della Salute e della Scienza University Hospital, Turin, 10126, Italy.<br /><searchLink fieldCode="AU" term="%22Pavinato+L%22">Pavinato L</searchLink>; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, 10126, Italy.; Institute of Oncology Research (IOR), Bellinzona Institutes of Science (BIOS+), Bellinzona, 6500, Switzerland.; Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano, 6900, Switzerland.<br /><searchLink fieldCode="AU" term="%22Biamino+E%22">Biamino E</searchLink>; Department of Pediatrics, Regina Margherita Children's Hospital, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Spano+A%22">Spano A</searchLink>; Department of Pediatrics, Regina Margherita Children's Hospital, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Hildebrandt+CC%22">Hildebrandt CC</searchLink>; Department of Pediatrics, Division of Genetics and Genomics, University of North Carolina, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Chan+YM%22">Chan YM</searchLink>; Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Groopman+E%22">Groopman E</searchLink>; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Berkenstadt+M%22">Berkenstadt M</searchLink>; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Koboldt+D%22">Koboldt D</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA.<br /><searchLink fieldCode="AU" term="%22Williamson+R%22">Williamson R</searchLink>; Akron Children's Hospital, One Perkins Square, Akron, OH, 44308, USA.<br /><searchLink fieldCode="AU" term="%22Brunner+HG%22">Brunner HG</searchLink>; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Vissers+LE%22">Vissers LE</searchLink>; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Torring+PM%22">Torring PM</searchLink>; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Hao+Q%22">Hao Q</searchLink>; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Gelb+BD%22">Gelb BD</searchLink>; Mindich Child Health and Development Institute, Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Goldmuntz+E%22">Goldmuntz E</searchLink>; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Reed+K%22">Reed K</searchLink>; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Bedoukian+EC%22">Bedoukian EC</searchLink>; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Vecchio+D%22">Vecchio D</searchLink>; Rare Disease and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Salzano+E%22">Salzano E</searchLink>; Division of Medical Genetics, AOOR Villa Sofia-Cervello, Palermo, Italy.<br /><searchLink fieldCode="AU" term="%22Piccione+M%22">Piccione M</searchLink>; Division of Medical Genetics, AOOR Villa Sofia-Cervello, Palermo, Italy.; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.<br /><searchLink fieldCode="AU" term="%22Zanus+C%22">Zanus C</searchLink>; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Mio+C%22">Mio C</searchLink>; Department of Medicine (DMED), University of Udine, Udine, Italy.<br /><searchLink fieldCode="AU" term="%22Eichler+EE%22">Eichler EE</searchLink>; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, 98195, USA.<br /><searchLink fieldCode="AU" term="%22Wang+T%22">Wang T</searchLink>; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, 100191, China.; Neuroscience Research Institute, Key Laboratory for Neuroscience, Peking University, Ministry of Education of China & National Health Commission of China, Beijing, 100191, China.; Autism Research Center, Peking University Health Science Center, Beijing, 100191, China.<br /><searchLink fieldCode="AU" term="%22Patterson+WG%22">Patterson WG</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Butler+KM%22">Butler KM</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Piotrowski+M%22">Piotrowski M</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Mercier+S%22">Mercier S</searchLink>; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, F-44000, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, F-44000, France.<br /><searchLink fieldCode="AU" term="%22Cogné+B%22">Cogné B</searchLink>; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, F-44000, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, F-44000, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-sequoia.fr), Paris, France.<br /><searchLink fieldCode="AU" term="%22Wentzensen+IM%22">Wentzensen IM</searchLink>; GeneDx LLC, Gaithersburg, MD, 20877, USA.<br /><searchLink fieldCode="AU" term="%22Buratti+E%22">Buratti E</searchLink>; Molecular Pathology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, 34149, Italy.<br /><searchLink fieldCode="AU" term="%22Magistrato+A%22">Magistrato A</searchLink>; CNR - Istituto Officina dei Materiali (IOM) c/o International School for Advanced Studies (SISSA), Via Bonomea 265, Trieste, 34136, Italy.<br /><searchLink fieldCode="AU" term="%22Faletra+F%22">Faletra F</searchLink>; Department of Medicine (DMED), University of Udine, Udine, Italy. flavio.faletra@asufc.sanita.fvg.it.; Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy. flavio.faletra@asufc.sanita.fvg.it.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101475844%22">Genome medicine</searchLink> [Genome Med] 2026 Feb 19; Vol. 18 (1). <i>Date of Electronic Publication: </i>2026 Feb 19.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101475844 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1756-994X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221756994X%22">1756994X </searchLink><i>NLM ISO Abbreviation: </i>Genome Med <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41709284
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13073-026-01610-4
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: A novel spliceosomopathy caused by de novo SF3B3 variants.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Musante L
      – PersonEntity:
          Name:
            NameFull: Janos P
      – PersonEntity:
          Name:
            NameFull: Pianigiani G
      – PersonEntity:
          Name:
            NameFull: Cappelli S
      – PersonEntity:
          Name:
            NameFull: Longo A
      – PersonEntity:
          Name:
            NameFull: Alves C
      – PersonEntity:
          Name:
            NameFull: Schwaibold EM
      – PersonEntity:
          Name:
            NameFull: Wagner M
      – PersonEntity:
          Name:
            NameFull: Costain G
      – PersonEntity:
          Name:
            NameFull: Fridriksdottir R
      – PersonEntity:
          Name:
            NameFull: Stefansson K
      – PersonEntity:
          Name:
            NameFull: Sulem P
      – PersonEntity:
          Name:
            NameFull: Lichtenbelt KD
      – PersonEntity:
          Name:
            NameFull: van Binsbergen E
      – PersonEntity:
          Name:
            NameFull: van Jaarsveld RH
      – PersonEntity:
          Name:
            NameFull: Brusco A
      – PersonEntity:
          Name:
            NameFull: Pavinato L
      – PersonEntity:
          Name:
            NameFull: Biamino E
      – PersonEntity:
          Name:
            NameFull: Spano A
      – PersonEntity:
          Name:
            NameFull: Hildebrandt CC
      – PersonEntity:
          Name:
            NameFull: Chan YM
      – PersonEntity:
          Name:
            NameFull: Groopman E
      – PersonEntity:
          Name:
            NameFull: Berkenstadt M
      – PersonEntity:
          Name:
            NameFull: Koboldt D
      – PersonEntity:
          Name:
            NameFull: Williamson R
      – PersonEntity:
          Name:
            NameFull: Brunner HG
      – PersonEntity:
          Name:
            NameFull: Vissers LE
      – PersonEntity:
          Name:
            NameFull: Torring PM
      – PersonEntity:
          Name:
            NameFull: Hao Q
      – PersonEntity:
          Name:
            NameFull: Gelb BD
      – PersonEntity:
          Name:
            NameFull: Goldmuntz E
      – PersonEntity:
          Name:
            NameFull: Reed K
      – PersonEntity:
          Name:
            NameFull: Bedoukian EC
      – PersonEntity:
          Name:
            NameFull: Vecchio D
      – PersonEntity:
          Name:
            NameFull: Salzano E
      – PersonEntity:
          Name:
            NameFull: Piccione M
      – PersonEntity:
          Name:
            NameFull: Zanus C
      – PersonEntity:
          Name:
            NameFull: Mio C
      – PersonEntity:
          Name:
            NameFull: Eichler EE
      – PersonEntity:
          Name:
            NameFull: Wang T
      – PersonEntity:
          Name:
            NameFull: Patterson WG
      – PersonEntity:
          Name:
            NameFull: Butler KM
      – PersonEntity:
          Name:
            NameFull: Piotrowski M
      – PersonEntity:
          Name:
            NameFull: Mercier S
      – PersonEntity:
          Name:
            NameFull: Cogné B
      – PersonEntity:
          Name:
            NameFull: Wentzensen IM
      – PersonEntity:
          Name:
            NameFull: Buratti E
      – PersonEntity:
          Name:
            NameFull: Magistrato A
      – PersonEntity:
          Name:
            NameFull: Faletra F
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 19
              M: 02
              Text: 2026 Feb 19
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1756-994X
          Numbering:
            – Type: volume
              Value: 18
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Genome medicine
              Type: main
ResultId 1