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Efficient reinterpretation of rare disease cases using Exomiser.

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Title: Efficient reinterpretation of rare disease cases using Exomiser.
Authors: Vestito L; William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London, London, UK., Jacobsen JOB; William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London, London, UK., Walker S; Genomics England, United Kingdom Department of Health and Social Care, London, UK., Cipriani V; William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London, London, UK., Harris NL; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Haendel MA; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Mungall CJ; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Robinson P; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Smedley D; William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London, London, UK. d.smedley@qmul.ac.uk.
Source: NPJ genomic medicine [NPJ Genom Med] 2024 Dec 18; Vol. 9 (1), pp. 65. Date of Electronic Publication: 2024 Dec 18.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Vestito+L%22">Vestito L</searchLink>; William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Jacobsen+JOB%22">Jacobsen JOB</searchLink>; William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Walker+S%22">Walker S</searchLink>; Genomics England, United Kingdom Department of Health and Social Care, London, UK.<br /><searchLink fieldCode="AU" term="%22Cipriani+V%22">Cipriani V</searchLink>; William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Harris+NL%22">Harris NL</searchLink>; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.<br /><searchLink fieldCode="AU" term="%22Haendel+MA%22">Haendel MA</searchLink>; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Mungall+CJ%22">Mungall CJ</searchLink>; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.<br /><searchLink fieldCode="AU" term="%22Robinson+P%22">Robinson P</searchLink>; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Smedley+D%22">Smedley D</searchLink>; William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London, London, UK. d.smedley@qmul.ac.uk.
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              Text: 2024 Dec 18
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