The Human Phenotype Ontology in 2017.

Autor: Köhler S; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany dr.sebastian.koehler@gmail.com., Vasilevsky NA; Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA., Engelstad M; Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA., Foster E; Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA., McMurry J; Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA., Aymé S; Institut du Cerveau et de la Moelle épinière-ICM, CNRS UMR 7225-Inserm U 1127-UPMC-P6 UMR S 1127, Hôpital Pitié-Salpêtrière, 47, bd de l'Hôpital, 75013 Paris, France., Baynam G; Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, King Edward Memorial Hospital Department of Health, Government of Western Australia, Perth, WA 6008, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, WA 6008, Australia., Bello SM; The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA., Boerkoel CF; Imagenetics Research, Sanford Health, PO Box 5039, Route 5001, Sioux Falls, SD 57117-5039, USA., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Brudno M; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada., Buske OJ; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada., Chinnery PF; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.; NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK., Cipriani V; UCL Institute of Ophthalmology, Department of Ocular Biology and Therapeutics, 11-43 Bath Street, London EC1V 9EL, UK.; UCL Genetics Institute, University College London, London WC1E 6BT, UK., Connell LE; Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA., Dawkins HJ; Office of Population Health Genomics, Public Health Division, Health Department of Western Australia, 189 Royal Street, Perth, WA, 6004 Australia., DeMare LE; Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA., Devereau AD; Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK., de Vries BB; Department of Human Genetics, Radboud University, University Medical Centre, Nijmegen, The Netherlands., Firth HV; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium., Greene D; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Long Road, Cambridge CB2 0PT, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK., Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Helbig I; Division of Neurology, The Children's Hospital of Philadelphia, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA.; Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany., Hum C; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON M5G 1H3, Canada., Jähn JA; Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany., James R; NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK., Krause R; LuxembourgCentre for Systems Biomedicine, University of Luxembourg, 7, avenue des Hauts-Fourneaux, L-4362 Esch-sur-Alzette, Luxembourg., F Laulederkind SJ; Human and Molecular Genetics Center, Medical College of Wisconsin, USA., Lochmüller H; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK., Lyon GJ; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, New York, NY 11797, USA., Ogishima S; Dept of Bioclinical Informatics, Tohoku Medical Megabank Organization, Tohoku University, Tohoku Medical Megabank Organization Bldg 7F room #741,736, Seiryo 2-1, Aoba-ku, Sendai Miyagi 980-8573 Japan., Olry A; Orphanet-INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France., Ouwehand WH; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK., Pontikos N; UCL Institute of Ophthalmology, Department of Ocular Biology and Therapeutics, 11-43 Bath Street, London EC1V 9EL, UK.; UCL Genetics Institute, University College London, London WC1E 6BT, UK., Rath A; Orphanet-INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France., Schaefer F; Division of Pediatric Nephrology and KFH Children's Kidney Center, Center for Pediatrics and Adolescent Medicine, 69120 Heidelberg, Germany., Scott RH; Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK., Segal M; SimulConsult Inc., 27 Crafts Road, Chestnut Hill, MA 02467, USA., Sergouniotis PI; Manchester Royal Eye Hospital & University of Manchester, Manchester M13 9WL, UK., Sever R; Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA., Smith CL; The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA., Straub V; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK., Thompson R; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK., Turner C; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK., Turro E; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Long Road, Cambridge CB2 0PT, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK., Veltman MW; NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK., Vulliamy T; Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK., Yu J; Nuffield Department of Clinical Neurosciences, University of Oxford, Level 6, West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK., von Ziegenweidt J; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Long Road, Cambridge CB2 0PT, UK., Zankl A; Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Australia.; Academic Department of Medical Genetics, Sydney Childrens Hospitals Network (Westmead), Australia., Züchner S; JD McDonald Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA., Zemojtel T; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany., Jacobsen JO; Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK., Groza T; Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia.; St Vincent's Clinical School, Faculty of Medicine, UNSW Australia., Smedley D; Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK., Mungall CJ; Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, USA., Haendel M; Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA., Robinson PN; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA peter.robinson@jax.org.; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032, USA.

Publikováno v: Nucleic acids research [Nucleic Acids Res] 2017 Jan 04; Vol. 45 (D1), pp. D865-D876. Date of Electronic Publication: 2016 Nov 28.

The evolution of lineage-specific regulatory activities in the human embryonic limb.

Autor: Cotney J; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA., Leng J, Yin J, Reilly SK, DeMare LE, Emera D, Ayoub AE, Rakic P, Noonan JP

Publikováno v: Cell [Cell] 2013 Jul 03; Vol. 154 (1), pp. 185-96.

Introduction.

Autor: DeMare LE; Yale Journal of Biology and Medicine, New Haven, CT, USA. laura.demare@yale.edu, Cobleigh MA

Publikováno v: The Yale journal of biology and medicine [Yale J Biol Med] 2012 Mar; Vol. 85 (1), pp. 1-2.