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Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.

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Title: Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.
Authors: Maroni MJ; Neuroscience Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA., Barton M; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA., Lynch K; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA., Deshwar AR; Program in Developmental and Stem Cell Biology, Sickkids Research Institute, Toronto, ON M5G 0A4, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, M5G 0A4 Canada., Campbell PD; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA., Millard J; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA., Lee R; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA., Cohen A; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA., Ahmad R; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA., Paranjapye A; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA., Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile 7830490., Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute for Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Las Condes, Chile 7610671., McKenna C; Northern Ireland Regional Genetics Service, Belfast, Belfast BT9 7AB, Northern Ireland., Shillington AL; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Phornphutkul C; Rhode Island Hospital, Providence, RI 0290, USA., Hove HB; Rare Diseases Unit, Dept. of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. Member of ERNBond., Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands., Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands., Richmond CM; Royal Brisbane & Women's Hospital, Herston, Queensland, 4006, Australia.; School of Medicine, Griffith University, Gold Coast, Queensland, 4215, Australia., Lauzon J; Alberta Children's Hospital, Calgary AB Canada Department of Medical Genetics, Cummings School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada., Ibrahim AIE; Brody school of medicine, Greenville, NC 27834, USA., Nava C; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Hôpital Pitié Salpêtrière, Paris, France.; Assistance Publique- Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Héron D; Assistance Publique- Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., van Aalst MMA; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands., Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria., Sleptsova M; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria., Aleksandrova I; Clinic of Child Neurology, MHATNP 'St. Naum', Medical University-Sofia, Sofia, Bulgaria., Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria., Watkins DL; Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada., Kozenko MA; Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada., Natera-de Benito D; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain., Ortez C; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain., Estevez-Arias B; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Institut de Recerca Sant Joan de Deu, 08950, Barcelona, Spain., Lecoquierre F; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France., Cassinari K; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France., Guerrot AM; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France., Levy J; Department of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France., Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France., Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France., Innes AM; University of Calgary Department of Medical Genetics; Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada., Yang XR; University of Calgary Department of Medical Genetics; Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9WL Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, M13 9WL Manchester, UK., Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80539, Munich, Germany., Jacob M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, 81675, Munich, Germany., Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Skidmore P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; College of Health Solutions, Arizona State University, Tempe, AZ, 85287, USA., Galaz-Montoya CI; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Genetics, GIDP PhD Program, Tucson, AZ, 85721, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Mester JL; GeneDx, Gaithersburg, MD, 20877, USA., Granato M; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA., Armache KJ; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, M5G 0A4 Canada., Korb E; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Apr 14. Date of Electronic Publication: 2025 Apr 14.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.
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Member of ERNBond.<br /><searchLink fieldCode="AU" term="%22Mancini+GMS%22">Mancini GMS</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Schot+R%22">Schot R</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Barakat+TS%22">Barakat TS</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Richmond+CM%22">Richmond CM</searchLink>; Royal Brisbane & Women's Hospital, Herston, Queensland, 4006, Australia.; School of Medicine, Griffith University, Gold Coast, Queensland, 4215, Australia.<br /><searchLink fieldCode="AU" term="%22Lauzon+J%22">Lauzon J</searchLink>; Alberta Children's Hospital, Calgary AB Canada Department of Medical Genetics, Cummings School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada.<br /><searchLink fieldCode="AU" term="%22Ibrahim+AIE%22">Ibrahim AIE</searchLink>; Brody school of medicine, Greenville, NC 27834, USA.<br /><searchLink fieldCode="AU" term="%22Nava+C%22">Nava C</searchLink>; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Hôpital Pitié Salpêtrière, Paris, France.; Assistance Publique- Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Héron+D%22">Héron D</searchLink>; Assistance Publique- Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22van+Aalst+MMA%22">van Aalst MMA</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Atemin+S%22">Atemin S</searchLink>; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.<br /><searchLink fieldCode="AU" term="%22Sleptsova+M%22">Sleptsova M</searchLink>; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.<br /><searchLink fieldCode="AU" term="%22Aleksandrova+I%22">Aleksandrova I</searchLink>; Clinic of Child Neurology, MHATNP 'St. Naum', Medical University-Sofia, Sofia, Bulgaria.<br /><searchLink fieldCode="AU" term="%22Todorova+A%22">Todorova A</searchLink>; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.<br /><searchLink fieldCode="AU" term="%22Watkins+DL%22">Watkins DL</searchLink>; Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Kozenko+MA%22">Kozenko MA</searchLink>; Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Natera-de+Benito+D%22">Natera-de Benito D</searchLink>; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Ortez+C%22">Ortez C</searchLink>; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Estevez-Arias+B%22">Estevez-Arias B</searchLink>; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Institut de Recerca Sant Joan de Deu, 08950, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Lecoquierre+F%22">Lecoquierre F</searchLink>; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Cassinari+K%22">Cassinari K</searchLink>; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Guerrot+AM%22">Guerrot AM</searchLink>; 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University of Calgary Department of Medical Genetics; Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.<br /><searchLink fieldCode="AU" term="%22Banka+S%22">Banka S</searchLink>; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9WL Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, M13 9WL Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Vill+K%22">Vill K</searchLink>; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80539, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Jacob+M%22">Jacob M</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, 81675, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Kruer+M%22">Kruer M</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.<br /><searchLink fieldCode="AU" term="%22Skidmore+P%22">Skidmore P</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; College of Health Solutions, Arizona State University, Tempe, AZ, 85287, USA.<br /><searchLink fieldCode="AU" term="%22Galaz-Montoya+CI%22">Galaz-Montoya CI</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Genetics, GIDP PhD Program, Tucson, AZ, 85721, USA.<br /><searchLink fieldCode="AU" term="%22Bakhtiari+S%22">Bakhtiari S</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.<br /><searchLink fieldCode="AU" term="%22Mester+JL%22">Mester JL</searchLink>; GeneDx, Gaithersburg, MD, 20877, USA.<br /><searchLink fieldCode="AU" term="%22Granato+M%22">Granato M</searchLink>; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Armache+KJ%22">Armache KJ</searchLink>; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.<br /><searchLink fieldCode="AU" term="%22Costain+G%22">Costain G</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, M5G 0A4 Canada.<br /><searchLink fieldCode="AU" term="%22Korb+E%22">Korb E</searchLink>; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
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      – PersonEntity:
          Name:
            NameFull: Ibrahim AIE
      – PersonEntity:
          Name:
            NameFull: Nava C
      – PersonEntity:
          Name:
            NameFull: Héron D
      – PersonEntity:
          Name:
            NameFull: van Aalst MMA
      – PersonEntity:
          Name:
            NameFull: Atemin S
      – PersonEntity:
          Name:
            NameFull: Sleptsova M
      – PersonEntity:
          Name:
            NameFull: Aleksandrova I
      – PersonEntity:
          Name:
            NameFull: Todorova A
      – PersonEntity:
          Name:
            NameFull: Watkins DL
      – PersonEntity:
          Name:
            NameFull: Kozenko MA
      – PersonEntity:
          Name:
            NameFull: Natera-de Benito D
      – PersonEntity:
          Name:
            NameFull: Ortez C
      – PersonEntity:
          Name:
            NameFull: Estevez-Arias B
      – PersonEntity:
          Name:
            NameFull: Lecoquierre F
      – PersonEntity:
          Name:
            NameFull: Cassinari K
      – PersonEntity:
          Name:
            NameFull: Guerrot AM
      – PersonEntity:
          Name:
            NameFull: Levy J
      – PersonEntity:
          Name:
            NameFull: Latypova X
      – PersonEntity:
          Name:
            NameFull: Verloes A
      – PersonEntity:
          Name:
            NameFull: Innes AM
      – PersonEntity:
          Name:
            NameFull: Yang XR
      – PersonEntity:
          Name:
            NameFull: Banka S
      – PersonEntity:
          Name:
            NameFull: Vill K
      – PersonEntity:
          Name:
            NameFull: Jacob M
      – PersonEntity:
          Name:
            NameFull: Kruer M
      – PersonEntity:
          Name:
            NameFull: Skidmore P
      – PersonEntity:
          Name:
            NameFull: Galaz-Montoya CI
      – PersonEntity:
          Name:
            NameFull: Bakhtiari S
      – PersonEntity:
          Name:
            NameFull: Mester JL
      – PersonEntity:
          Name:
            NameFull: Granato M
      – PersonEntity:
          Name:
            NameFull: Armache KJ
      – PersonEntity:
          Name:
            NameFull: Costain G
      – PersonEntity:
          Name:
            NameFull: Korb E
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 14
              M: 04
              Text: 2025 Apr 14
              Type: published
              Y: 2025
          Titles:
            – TitleFull: MedRxiv : the preprint server for health sciences
              Type: main
ResultId 1