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Development of self-phenotyping tools to empower patients and improve diagnostics.

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Title: Development of self-phenotyping tools to empower patients and improve diagnostics.
Authors: Shefchek K; Oregon State University, Corvallis, OR, USA., Ziniel SI; Section of Pediatric Hospital Medicine, Department of Pediatrics, Children's Hospital Colorado and School of Medicine, University of Colorado, Aurora, CO, USA., McMurry JA; Department of Genetics, University of North Carolina at Chapel Hill, 120 Mason Farm Rd, Chapel Hill, NC, 27599, USA., Brownstein CA; Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA., Brownstein JS; Computational Epidemiology Laboratory, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA., Riggs ER; Autism and Developmental Medicine Institute, Geisinger, Danville, PA, USA., Might M; Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, AL, USA., Smedley D; William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Clugston A; DYRK1A Syndrome US, USA., Beggs AH; Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA., Paterson H; Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA., Robinson PN; Medical Computer Science and Artificial Intelligence, Berlin Institute of Health at Charité (BIH), Rahel Hirsch Center for Translational Medicine, Luisenstraße 65, 10117, Berlin, Germany., Vasilevsky NA; Critical Path Institute, 1840 E River Rd #100, Tucson, AZ, 85718, USA., Holm IA; Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. Electronic address: ingrid.holm@childrens.harvard.edu., Haendel MA; Department of Genetics, University of North Carolina at Chapel Hill, 120 Mason Farm Rd, Chapel Hill, NC, 27599, USA. Electronic address: melissa@tislab.org.
Source: EBioMedicine [EBioMedicine] 2025 Nov; Vol. 121, pp. 105965. Date of Electronic Publication: 2025 Oct 30.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Shefchek+K%22">Shefchek K</searchLink>; Oregon State University, Corvallis, OR, USA.<br /><searchLink fieldCode="AU" term="%22Ziniel+SI%22">Ziniel SI</searchLink>; Section of Pediatric Hospital Medicine, Department of Pediatrics, Children's Hospital Colorado and School of Medicine, University of Colorado, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22McMurry+JA%22">McMurry JA</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, 120 Mason Farm Rd, Chapel Hill, NC, 27599, USA.<br /><searchLink fieldCode="AU" term="%22Brownstein+CA%22">Brownstein CA</searchLink>; Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.<br /><searchLink fieldCode="AU" term="%22Brownstein+JS%22">Brownstein JS</searchLink>; Computational Epidemiology Laboratory, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.<br /><searchLink fieldCode="AU" term="%22Riggs+ER%22">Riggs ER</searchLink>; Autism and Developmental Medicine Institute, Geisinger, Danville, PA, USA.<br /><searchLink fieldCode="AU" term="%22Might+M%22">Might M</searchLink>; Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, AL, USA.<br /><searchLink fieldCode="AU" term="%22Smedley+D%22">Smedley D</searchLink>; William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Clugston+A%22">Clugston A</searchLink>; DYRK1A Syndrome US, USA.<br /><searchLink fieldCode="AU" term="%22Beggs+AH%22">Beggs AH</searchLink>; Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.<br /><searchLink fieldCode="AU" term="%22Paterson+H%22">Paterson H</searchLink>; Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.<br /><searchLink fieldCode="AU" term="%22Robinson+PN%22">Robinson PN</searchLink>; Medical Computer Science and Artificial Intelligence, Berlin Institute of Health at Charité (BIH), Rahel Hirsch Center for Translational Medicine, Luisenstraße 65, 10117, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Vasilevsky+NA%22">Vasilevsky NA</searchLink>; Critical Path Institute, 1840 E River Rd #100, Tucson, AZ, 85718, USA.<br /><searchLink fieldCode="AU" term="%22Holm+IA%22">Holm IA</searchLink>; Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. Electronic address: ingrid.holm@childrens.harvard.edu.<br /><searchLink fieldCode="AU" term="%22Haendel+MA%22">Haendel MA</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, 120 Mason Farm Rd, Chapel Hill, NC, 27599, USA. Electronic address: melissa@tislab.org.
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  Data: <searchLink fieldCode="JN" term="%22101647039%22">EBioMedicine</searchLink> [EBioMedicine] 2025 Nov; Vol. 121, pp. 105965. <i>Date of Electronic Publication: </i>2025 Oct 30.
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              Text: 2025 Nov
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