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pro vyhledávání: '"Cassa CA"'
Glycosaminoglycans (GAGs) such as chondroitin are ubiquitous disaccharide carbohydrate chains that contribute to the formation and function of proteoglycans at the cell membrane and in the extracellular matrix. Although GAG-modifying enzymes are requ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::747f31523dd923944d98cf63678f7456
https://hdl.handle.net/20.500.11831/1568
https://hdl.handle.net/20.500.11831/1568
Akademický článek
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Akademický článek
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Publikováno v:
New England Journal of Medicine. 10/19/2006, Vol. 355 Issue 16, p1741-1742. 2p.
Autor:
Yu T; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Fife JD; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Bhat V; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Adzhubey I; Department of Biomedical Informatics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA., Sherwood R; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: rsherwood@bwh.harvard.edu., Cassa CA; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: ccassa@bwh.harvard.edu.
Publikováno v:
Cell genomics [Cell Genom] 2024 Oct 09; Vol. 4 (10), pp. 100667.
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Autor:
Ryu J; Molecular Pathology Unit, Krantz Family Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Gene Regulation Observatory, The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Barkal S; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Yu T; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Jankowiak M; Gene Regulation Observatory, The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Zhou Y; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia., Francoeur M; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Phan QV; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Li Z; Molecular Pathology Unit, Krantz Family Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.; Gene Regulation Observatory, The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Tognon M; Molecular Pathology Unit, Krantz Family Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.; Gene Regulation Observatory, The Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Computer Science Department, University of Verona, Verona, Italy., Brown L; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Love MI; Department of Genetics, Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Bhat V; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Lettre G; Montreal Heart Institute, Montréal, Quebec, Canada.; Faculté de Médecine, Université de Montréal, Montréal, Quebec, Canada., Ascher DB; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia., Cassa CA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. ccassa@bwh.harvard.edu., Sherwood RI; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. rsherwood@bwh.harvard.edu., Pinello L; Molecular Pathology Unit, Krantz Family Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA. lpinello@mgh.harvard.edu.; Gene Regulation Observatory, The Broad Institute of Harvard and MIT, Cambridge, MA, USA. lpinello@mgh.harvard.edu.; Department of Pathology, Harvard Medical School, Boston, MA, USA. lpinello@mgh.harvard.edu.
Publikováno v:
Nature genetics [Nat Genet] 2024 May; Vol. 56 (5), pp. 925-937. Date of Electronic Publication: 2024 Apr 24.
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Autor:
Ryu J; Molecular Pathology Unit, Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Broad Institute of Harvard and MIT, Cambridge, MA, USA., Barkal S; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Yu T; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Jankowiak M; Broad Institute of Harvard and MIT, Cambridge, MA, USA., Zhou Y; School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia., Francoeur M; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Phan QV; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Li Z; Molecular Pathology Unit, Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of Harvard and MIT, Cambridge, MA, USA., Tognon M; Molecular Pathology Unit, Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Computer Science Department, University of Verona, Verona, Italy., Brown L; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Love MI; Department of Genetics, Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC., Lettre G; Montreal Heart Institute, Montréal, QC H1T 1C8, Canada.; Faculté de Médecine, Université de Montréal, Montréal, QC H3T 1J4, Canada., Ascher DB; School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia., Cassa CA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Sherwood RI; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Pinello L; Molecular Pathology Unit, Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Pathology, Harvard Medical School, Boston, MA, USA.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Sep 10. Date of Electronic Publication: 2023 Sep 10.
Autor:
Fife JD; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Cassa CA; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Harvard Medical School, Boston, MA, USA. Electronic address: cassa@alum.mit.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2023 Jun 01; Vol. 110 (6), pp. 940-949. Date of Electronic Publication: 2023 May 25.
Autor:
Hamilton MC; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Fife JD; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Akinci E; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Yu T; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Khowpinitchai B; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Cha M; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Barkal S; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Thi TT; Precision Medicine Research Programme, Cardiovascular Disease Research Programme, and Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Yeo GHT; Department of Electrical Engineering and Computer Science, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.; Department of Biological Engineering, Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA 02139, USA., Ramos Barroso JP; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Francoeur MJ; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Velimirovic M; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Gifford DK; Department of Electrical Engineering and Computer Science, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.; Department of Biological Engineering, Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA 02139, USA., Lettre G; Montreal Heart Institute, Montréal, QC H1T 1C8, Canada.; Faculté de Médecine, Université de Montréal, Montréal, QC H3T 1J4, Canada., Yu H; Precision Medicine Research Programme, Cardiovascular Disease Research Programme, and Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Cassa CA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Sherwood RI; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Publikováno v:
Cell genomics [Cell Genom] 2023 Apr 21; Vol. 3 (5), pp. 100304. Date of Electronic Publication: 2023 Apr 21 (Print Publication: 2023).
Autor:
Luppino F; Max Planck Institute of Molecular Cell Biology and Genetics, 01307, Dresden, Germany.; Center for Systems Biology Dresden, 01307, Dresden, Germany., Adzhubei IA; Brigham and Women's Hospital Division of Genetics, Harvard Medical School, Boston, MA, 02115, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, 02115, USA., Cassa CA; Brigham and Women's Hospital Division of Genetics, Harvard Medical School, Boston, MA, 02115, USA. ccassa@bwh.harvard.edu., Toth-Petroczy A; Max Planck Institute of Molecular Cell Biology and Genetics, 01307, Dresden, Germany. toth-petroczy@mpi-cbg.de.; Center for Systems Biology Dresden, 01307, Dresden, Germany. toth-petroczy@mpi-cbg.de.; Cluster of Excellence Physics of Life, TU Dresden, 01062, Dresden, Germany. toth-petroczy@mpi-cbg.de.
Publikováno v:
Nature communications [Nat Commun] 2023 Apr 19; Vol. 14 (1), pp. 2230. Date of Electronic Publication: 2023 Apr 19.