Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Michael M. Segal"'
Autor:
Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley, Joseph Gleeson
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background In diagnosis of rare genetic diseases we face a decision as to the degree to which the sequencing lab offers one or more diagnoses based on clinical input provided by the clinician, or the clinician reaches a diagnosis based on th
Externí odkaz:
https://doaj.org/article/602ee97181f24459813280ff8f4b5023
Autor:
Conner Jenkins, Troy Jenkins, Thomas N Person, Peter N Robinson, Alanna Kulchak Rahm, Nephi A Walton, Lynn K Feldman, Joeseph Peterson, Jonathon C Reynolds, Makenzie A Woltz, Marc S Williams, Michael M Segal
Publikováno v:
BMJ Health & Care Informatics, Vol 28, Iss 1 (2021)
Objectives There is a need in clinical genomics for systems that assist in clinical diagnosis, analysis of genomic information and periodic reanalysis of results, and can use information from the electronic health record to do so. Such systems should
Externí odkaz:
https://doaj.org/article/6f81dbb812864747af76481cc3b38917
Autor:
Mark, Mintz, Victor, Badner, Lynn K, Feldman, Pnina, Mintz, Mana, Saraghi, Jonathan, Diaz, Irina, Mezhebovsky, Irene, Axelrod, Joseph, Gleeson, Chang, Liu, Cathy, Smith, Helen, Chow, David, Zurakowski, Michael M, Segal
Publikováno v:
Psychopharmacol Bull
OBJECTIVES: The mechanism of many neuropsychiatric disorders remains unknown, but the ineffectiveness of the sodium channel blocker lidocaine has been suggested to be a biomarker for Attention Deficit Hyperactivity Disorder (ADHD) and a severe form o
Autor:
Christopher J. Mungall, Matthias Haimel, Fabian Hauck, Marc Hanauer, Nicolas Matentzoglu, Ganna Balagura, Ingo Helbig, Julie A. McMurry, Avi Z. Rosenberg, Amy Brower, Johanna L. Est, Julia Pazmandi, Maximilian Hastreiter, Melissa A. Haendel, Peter D. Galer, Nomi L. Harris, Gerhard Kindle, Michael Hartnett, Daniel Danis, Hugh Kearney, Shiva Ganesan, Yongqun He, Michael A. Gargano, Rebecca L. Peters, Matthias Griese, Roland Krause, Damian Smedley, Shahmir A. Rind, Katrin Knoflach, Tim Jeske, Gareth Baynam, Peter N. Robinson, Michael M. Segal, Leigh C. Carmody, David Lagorce, Monica Munoz-Torres, Christopher G. Chute, Christoph Klein, Zafer Yüksel, Jillian A. Miller, Tomer Talmy, Christina K Rapp, Julie Xian, Tiffany J. Callahan, Samuel A. Wiafe, David Lewis-Smith, Ana Rath, Nicole Vasilevsky, Yarlalu Thomas, Markus G. Seidel, Sebastian Köhler
Publikováno v:
Nucleic Acids Research, 2021, Vol. 49
Nucleic Acids Research
Nucleic Acids Research
The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for
Publikováno v:
Internet Journal of Allied Health Sciences and Practice.
Problem: Teaching genetic diagnosis is required in all medical schools and physician assistant programs. However, with thousands of relevant findings and thousands more rare diseases, lectures and narrative resources are inadequate for the task. What
Autor:
Valentina Stanley, Kiely N. James, Renee D. George, Joseph G. Gleeson, Michael M. Segal, Ayman W. El-Hattab, Peter Waltman
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Background In diagnosis of rare genetic diseases we face a decision as to the degree to which the sequencing lab offers one or more diagnoses based on clinical input provided by the clinician, or the clinician reaches a diagnosis based on the complet
Autor:
Rachel Thompson, Stanley J. F. Laulederkind, Richard H. Scott, Panagiotis I. Sergouniotis, Ada Hamosh, Mark Engelstad, Hanns Lochmüller, Gareth Baynam, Richard Sever, Roger James, Hugh Dawkins, Laureen E. Connell, C. Turner, Andrew D. Devereau, Susan M. Bello, Michael Brudno, Courtney Hum, Cynthia L. Smith, Julie A. McMurry, Michael M. Segal, Damian Smedley, Gholson J. Lyon, Helen V. Firth, Ingo Helbig, Tom Vulliamy, Roland Krause, Patrick F. Chinnery, Franz Schaefer, Ernest Turro, Melissa A. Haendel, Cornelius F. Boerkoel, Peter N. Robinson, Willem H. Ouwehand, Orion J. Buske, Kym M. Boycott, Volker Straub, Bert B.A. de Vries, Daniel Greene, Valentina Cipriani, Erin D. Foster, Annie Olry, Julius O.B. Jacobsen, Laura E. DeMare, Marijcke W. M. Veltman, Nikolas Pontikos, Andreas Zankl, Tudor Groza, Kathleen Freson, Sebastian Köhler, Ana Rath, Nicole Vasilevsky, Julie von Ziegenweidt, Ségolène Aymé, Soichi Ogishima, Johanna A. Jähn, Jing Yu, Tomasz Zemojtel, Stephan Züchner, Christopher J. Mungall
Publikováno v:
Köhler, S, Vasilevsky, N A, Engelstad, M, Foster, E, McMurry, J, Aymé, S, Baynam, G, Bello, S M, Boerkoel, C F, Boycott, K M, Brudno, M, Buske, O J, Chinnery, P F, Cipriani, V, Connell, L E, Dawkins, H J S, DeMare, L E, Devereau, A D, De Vries, B B A, Firth, H V, Freson, K, Greene, D, Hamosh, A, Helbig, I, Hum, C, Jähn, J A, James, R, Krause, R, Laulederkind, S J F, Lochmüller, H, Lyon, G J, Ogishima, S, Olry, A, Ouwehand, W H, Pontikos, N, Rath, A, Schaefer, F, Scott, R H, Segal, M, Sergouniotis, P I, Sever, R, Smith, C L, Straub, V, Thompson, R, Turner, C, Turro, E, Veltman, M W M, Vulliamy, T, Yu, J, Von Ziegenweidt, J, Zankl, A, Züchner, S, Zemojtel, T, Jacobsen, J O B, Groza, T, Smedley, D, Mungall, C J, Haendel, M & Robinson, P N 2017, ' The Human Phenotype Ontology in 2017 ', Nucleic acids research, vol. 45, no. D1, pp. D865-D876 . https://doi.org/10.1093/nar/gkw1039
Nucleic Acids Research
Nucleic Acids Research, 45, D1, pp. D865-d876
Köhler, S; Vasilevsky, NA; Engelstad, M; Foster, E; McMurry, J; Aymé, S; et al.(2017). The human phenotype ontology in 2017. Nucleic Acids Research, 45(D1), D865-D876. doi: 10.1093/nar/gkw1039. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/2w17n1nt
Nucleic Acids Research, 45, D865-d876
Nucleic Acids Research. (2016).
Nucleic Acids Research
Nucleic Acids Research, 45, D1, pp. D865-d876
Köhler, S; Vasilevsky, NA; Engelstad, M; Foster, E; McMurry, J; Aymé, S; et al.(2017). The human phenotype ontology in 2017. Nucleic Acids Research, 45(D1), D865-D876. doi: 10.1093/nar/gkw1039. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/2w17n1nt
Nucleic Acids Research, 45, D865-d876
Nucleic Acids Research. (2016).
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.hum
Autor:
Kayli Rageth, Cynthia L. Smith, Renske Oegema, Julius O.B. Jacobsen, Xingmin Aaron Zhang, Kathleen E. Sullivan, James P. Balhoff, Ayushi Hegde, David Osumi-Sutherland, Gareth Baynam, Rachel Thompson, Matthew T. Wheeler, Cornelius F. Boerkoel, Hélène Dollfus, Nomi L. Harris, Daniel Durkin, Dorothée Leroux, Joshua D. Milner, Melissa A. Haendel, Annie Olry, Dylan Gratian, Nicolas Matentzoglu, Anna Jansen, David Gómez-Andrés, Zafer Yüksel, Hugh Dawkins, Peter N. Robinson, Ruth C. Lovering, Luigi D. Notarangelo, Michael M. Segal, Maria G. Della Rocca, Sergio Rosenzweig, Julie A. McMurry, Catherine Hajek, Francisco Castellanos, Valentina Cipriani, Willie H. Chang, Sergi Beltran, Ahmed Muaz, Leigh C. Carmody, Marc Hanauer, Jenna R.E. Bergerson, Hanns Lochmüller, Halima Lourghi, Tom Conlin, Charlotte Cunningham-Rundles, James R. Priest, Richard Palmer, Shruti Marwaha, Panagiotis I. Sergouniotis, Amy D. Klion, Alexandra F. Freeman, Morgan Similuk, Michael Brudno, Melody C. Carter, Stanley J. F. Laulederkind, Michael A. Gargano, Susan M. Bello, Tudor Groza, Christopher J. Mungall, Damian Smedley, Hannah Blau, Daniel Danis, Jean-Philippe F. Gourdine, Sebastian Köhler, Murat Sincan, Ana Rath, Nicole Vasilevsky, Andrea L. Storm
Publikováno v:
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nucleic Acids Research, 47(D1), D1018. Oxford University Press
Nucleic Acids Research
Köhler, S, Carmody, L, Vasilevsky, N, Jacobsen, J O B, Danis, D, Gourdine, J P, Gargano, M, Harris, N L, Matentzoglu, N, McMurry, J A, Osumi-Sutherland, D, Cipriani, V, Balhoff, J P, Conlin, T, Blau, H, Baynam, G, Palmer, R, Gratian, D, Dawkins, H, Segal, M, Jansen, A C, Muaz, A, Chang, W H, Bergerson, J, Laulederkind, S J F, Yüksel, Z, Beltran, S, Freeman, A F, Sergouniotis, P I, Durkin, D, Storm, A L, Hanauer, M, Brudno, M, Bello, S M, Sincan, M, Rageth, K, Wheeler, M T, Oegema, R, Lourghi, H, Della Rocca, M G, Thompson, R, Castellanos, F, Priest, J, Cunningham-Rundles, C, Hegde, A, Lovering, R C, Hajek, C, Olry, A, Notarangelo, L & Similuk, M 2019, ' Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources ', Nucleic acids research, vol. 47, no. D1, pp. D1018-D1027 . https://doi.org/10.1093/nar/gky1105
Nucleic acids research, vol 47, iss D1
Recercat. Dipósit de la Recerca de Catalunya
instname
Universitat Autònoma de Barcelona
Nucleic Acids Research, 47(D1), D1018. Oxford University Press
Nucleic Acids Research
Köhler, S, Carmody, L, Vasilevsky, N, Jacobsen, J O B, Danis, D, Gourdine, J P, Gargano, M, Harris, N L, Matentzoglu, N, McMurry, J A, Osumi-Sutherland, D, Cipriani, V, Balhoff, J P, Conlin, T, Blau, H, Baynam, G, Palmer, R, Gratian, D, Dawkins, H, Segal, M, Jansen, A C, Muaz, A, Chang, W H, Bergerson, J, Laulederkind, S J F, Yüksel, Z, Beltran, S, Freeman, A F, Sergouniotis, P I, Durkin, D, Storm, A L, Hanauer, M, Brudno, M, Bello, S M, Sincan, M, Rageth, K, Wheeler, M T, Oegema, R, Lourghi, H, Della Rocca, M G, Thompson, R, Castellanos, F, Priest, J, Cunningham-Rundles, C, Hegde, A, Lovering, R C, Hajek, C, Olry, A, Notarangelo, L & Similuk, M 2019, ' Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources ', Nucleic acids research, vol. 47, no. D1, pp. D1018-D1027 . https://doi.org/10.1093/nar/gky1105
Nucleic acids research, vol 47, iss D1
Recercat. Dipósit de la Recerca de Catalunya
instname
National Institutes of Health (NIH), Monarch Initiative [OD #5R24OD011883]; Forums for Integrative Phenomics [U13 CA221044-01]; NCATS Data Translator [1OT3TR002019]; NCATS National Center for Digital Health Informatics Innovation [U24 TR002306];NIH D
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b257ee3ebfb3ae3e9ecbc4f0bc47ed
https://ddd.uab.cat/record/223246
https://ddd.uab.cat/record/223246
Autor:
Janet L. Williams, Steven Mayernick, Michelle Yefko, Lynn Feldman, Marc S. Williams, Steven B. Bleyl, Michael M. Segal, Grant M. Wood, Roger Gildersleeve, Margie C. Sunderland, David Gehrum, Alanna Kulchak Rahm, Peter J. Haug, Gregory J. Moore, Nathan C. Hulse
Publikováno v:
eGEMs, Vol 5, Iss 1 (2017)
eGEMs (Generating Evidence & Methods to improve patient outcomes); Vol 5, No 1 (2017); 23
eGEMs (Generating Evidence & Methods to improve patient outcomes); Vol 5, No 1 (2017); 23
Introduction: Reducing misdiagnosis has long been a goal of medical informatics. Current thinking has focused on achieving this goal by integrating diagnostic decision support into electronic health records.Methods: A diagnostic decision support syst
Autor:
Michael M. Segal, Jamie Green, Audrey L. Fan, Janet L. Williams, Marc S. Williams, Alanna Kulchak Rahm, Doris T. Zallen, Lynn Feldman, Heather L. Stuckey, Michele Bonhag
Publikováno v:
American Journal of Medical Genetics. Part a
The purpose of this study was to develop a family genomic laboratory report designed to communicate genome sequencing results to parents of children who were participating in a whole genome sequencing clinical research study. Semi-structured intervie