View in EDS

The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.

Saved in:
Bibliographic Details
Title: The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.
Authors: Low KJ; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK. Karen.low@bristol.ac.uk.; Department of Clinical Genetics, UHBW NHS Trust, Bristol, UK. Karen.low@bristol.ac.uk., Foreman J; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Hobson RJ; DDD team, Wellcome Sanger Institute, Hinxton, Cambridge, UK., Kwuo H; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK., Martinez-Cayuelas E; Department of Pediatrics, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain., Almoguera B; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Marin-Reina P; Dysmorphology and Neonatology Unit. Hospital Universitari i Politècnic La Fe, Valencia, Spain., Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Woods E; Division of Clinical Medicine, University of Sheffield, Sheffield, UK.; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK., Balasubramanian M; Division of Clinical Medicine, University of Sheffield, Sheffield, UK.; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK., Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Wright CM; Department of Human Nutrition, School of Medicine, Dentistry and Nursing, University of Glasgow, Glasgow, UK., Firth HV; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge, UK., Cole TJ; UCL Great Ormond Street Institute of Child Health, London, UK.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Mar; Vol. 34 (3), pp. 348-356. Date of Electronic Publication: 2025 Oct 13.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41077617
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Low+KJ%22">Low KJ</searchLink>; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK. Karen.low@bristol.ac.uk.; Department of Clinical Genetics, UHBW NHS Trust, Bristol, UK. Karen.low@bristol.ac.uk.<br /><searchLink fieldCode="AU" term="%22Foreman+J%22">Foreman J</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Hobson+RJ%22">Hobson RJ</searchLink>; DDD team, Wellcome Sanger Institute, Hinxton, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Kwuo+H%22">Kwuo H</searchLink>; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Martinez-Cayuelas+E%22">Martinez-Cayuelas E</searchLink>; Department of Pediatrics, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Almoguera+B%22">Almoguera B</searchLink>; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Marin-Reina+P%22">Marin-Reina P</searchLink>; Dysmorphology and Neonatology Unit. Hospital Universitari i Politècnic La Fe, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Caraffi+SG%22">Caraffi SG</searchLink>; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Garavelli+L%22">Garavelli L</searchLink>; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Woods+E%22">Woods E</searchLink>; Division of Clinical Medicine, University of Sheffield, Sheffield, UK.; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Balasubramanian+M%22">Balasubramanian M</searchLink>; Division of Clinical Medicine, University of Sheffield, Sheffield, UK.; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Bayat+A%22">Bayat A</searchLink>; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Ockeloen+CW%22">Ockeloen CW</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wright+CM%22">Wright CM</searchLink>; Department of Human Nutrition, School of Medicine, Dentistry and Nursing, University of Glasgow, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Firth+HV%22">Firth HV</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Cole+TJ%22">Cole TJ</searchLink>; UCL Great Ormond Street Institute of Child Health, London, UK.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 Mar; Vol. 34 (3), pp. 348-356. <i>Date of Electronic Publication: </i>2025 Oct 13.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41077617
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41431-025-01947-1
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 348
    Titles:
      – TitleFull: The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Low KJ
      – PersonEntity:
          Name:
            NameFull: Foreman J
      – PersonEntity:
          Name:
            NameFull: Hobson RJ
      – PersonEntity:
          Name:
            NameFull: Kwuo H
      – PersonEntity:
          Name:
            NameFull: Martinez-Cayuelas E
      – PersonEntity:
          Name:
            NameFull: Almoguera B
      – PersonEntity:
          Name:
            NameFull: Marin-Reina P
      – PersonEntity:
          Name:
            NameFull: Caraffi SG
      – PersonEntity:
          Name:
            NameFull: Garavelli L
      – PersonEntity:
          Name:
            NameFull: Woods E
      – PersonEntity:
          Name:
            NameFull: Balasubramanian M
      – PersonEntity:
          Name:
            NameFull: Bayat A
      – PersonEntity:
          Name:
            NameFull: Ockeloen CW
      – PersonEntity:
          Name:
            NameFull: Wright CM
      – PersonEntity:
          Name:
            NameFull: Firth HV
      – PersonEntity:
          Name:
            NameFull: Cole TJ
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 03
              Text: 2026 Mar
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1476-5438
          Numbering:
            – Type: volume
              Value: 34
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: European journal of human genetics : EJHG
              Type: main
ResultId 1