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

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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
Description
ISSN:1476-5438
DOI:10.1038/s41431-025-01947-1