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Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016.
Clark, Wyatt T; Kasak, Laura; Bakolitsa, Constantina; Hu, Zhiqiang; Andreoletti, Gaia; Babbi, Giulia; Bromberg, Yana; Casadio, Rita; Dunbrack, Roland; Folkman, Lukas; Ford, Colby T; Jones, David; Katsonis, Panagiotis; Kundu, Kunal; Lichtarge, Olivier; Martelli, Pier L; Mooney, Sean D; Nodzak, Conor; Pal, Lipika R; Radivojac, Predrag; Savojardo, Castrense; Shi, Xinghua; Zhou, Yaoqi; Uppal, Aneeta; Xu, Qifang; Yin, Yizhou; Pejaver, Vikas; Wang, Meng; Wei, Liping; Moult, John; Yu, Guoying Karen; Brenner, Steven E; LeBowitz, Jonathan H.
Afiliación
  • Clark WT; Human Genetics, BioMarin Pharmaceutical, San Rafael, California.
  • Kasak L; Department of Plant and Microbial Biology, University of California, Berkeley, California.
  • Bakolitsa C; Department of Biomedicine, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
  • Hu Z; Department of Plant and Microbial Biology, University of California, Berkeley, California.
  • Andreoletti G; Department of Plant and Microbial Biology, University of California, Berkeley, California.
  • Babbi G; Department of Plant and Microbial Biology, University of California, Berkeley, California.
  • Bromberg Y; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
  • Casadio R; Department of Biochemistry and Microbiology, Rutgers University, New Brunswick, New Jersey.
  • Dunbrack R; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
  • Folkman L; Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
  • Ford CT; Machine Learning and Computational Biology Lab, Department of Biosystems Science and Engineering, ETH, Zurich, Switzerland.
  • Jones D; Department of Bioinformatics and Genomics, The University of North Carolina at Charlotte, Charlotte, North Carolina.
  • Katsonis P; Bioinformatics Group, Department of Computer Science, University College London, London, UK.
  • Kundu K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Lichtarge O; Institute for Bioscience and Biotechnology Research, University of Maryland, Rockville, Maryland.
  • Martelli PL; Computational Biology, Bioinformatics and Genomics, Biological Sciences Graduate Program, University of Maryland, College Park, Maryland.
  • Mooney SD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Nodzak C; Department of Biochemistry & Molecular Biology, Baylor College of Medicine, Houston, Texas.
  • Pal LR; Department of Pharmacology, Baylor College of Medicine, Houston, Texas.
  • Radivojac P; Computational and Integrative Biomedical Research Center, Baylor College of Medicine, Houston, Texas.
  • Savojardo C; Department of Biomedicine, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
  • Shi X; Buck Institute for Research on Aging, Novato, California.
  • Zhou Y; Department of Bioinformatics and Genomics, The University of North Carolina at Charlotte, Charlotte, North Carolina.
  • Uppal A; Institute for Bioscience and Biotechnology Research, University of Maryland, Rockville, Maryland.
  • Xu Q; Department of Computer Science, Indiana University, Bloomington, Indiana.
  • Yin Y; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
  • Pejaver V; Department of Bioinformatics and Genomics, The University of North Carolina at Charlotte, Charlotte, North Carolina.
  • Wang M; Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, Indiana.
  • Wei L; Department of Bioinformatics and Genomics, The University of North Carolina at Charlotte, Charlotte, North Carolina.
  • Moult J; Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
  • Yu GK; Institute for Bioscience and Biotechnology Research, University of Maryland, Rockville, Maryland.
  • Brenner SE; Computational Biology, Bioinformatics and Genomics, Biological Sciences Graduate Program, University of Maryland, College Park, Maryland.
  • LeBowitz JH; Department of Computer Science, Indiana University, Bloomington, Indiana.
Hum Mutat ; 40(9): 1519-1529, 2019 09.
Article en En | MEDLINE | ID: mdl-31342580

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Acetilglucosaminidasa / Biología Computacional / Mutación Missense Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Acetilglucosaminidasa / Biología Computacional / Mutación Missense Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos