Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Xingmin Aaron Zhang"'
Autor:
Nicole A Vasilevsky, Nicolas A Matentzoglu, Sabrina Toro, Joseph E Flack, Harshad Hegde, Deepak R Unni, Gioconda F Alyea, Joanna S Amberger, Larry Babb, James P Balhoff, Taylor I Bingaman, Gully A Burns, Orion J Buske, Tiffany J Callahan, Leigh C Carmody, Paula Carrio Cordo, Lauren E Chan, George S Chang, Sean L Christiaens, Michel Dumontier, Laura E Failla, May J Flowers, H. Alpha Garrett, Jennifer L Goldstein, Dylan Gration, Tudor Groza, Marc Hanauer, Nomi L Harris, Jason A Hilton, Daniel S Himmelstein, Charles Tapley Hoyt, Megan S Kane, Sebastian Köhler, David Lagorce, Abbe Lai, Martin Larralde, Antonia Lock, Irene López Santiago, Donna R Maglott, Adriana J Malheiro, Birgit H M Meldal, Monica C Munoz-Torres, Tristan H Nelson, Frank W Nicholas, David Ochoa, Daniel P Olson, Tudor I Oprea, David Osumi-Sutherland, Helen Parkinson, Zoë May Pendlington, Ana Rath, Heidi L Rehm, Lyubov Remennik, Erin R Riggs, Paola Roncaglia, Justyne E Ross, Marion F Shadbolt, Kent A Shefchek, Morgan N Similuk, Nicholas Sioutos, Damian Smedley, Rachel Sparks, Ray Stefancsik, Ralf Stephan, Andrea L Storm, Doron Stupp, Gregory S Stupp, Jagadish Chandrabose Sundaramurthi, Imke Tammen, Darin Tay, Courtney L Thaxton, Eloise Valasek, Jordi Valls-Margarit, Alex H Wagner, Danielle Welter, Patricia L Whetzel, Lori L Whiteman, Valerie Wood, Colleen H Xu, Andreas Zankl, Xingmin Aaron Zhang, Christopher G Chute, Peter N Robinson, Christopher J Mungall, Ada Hamosh, Melissa A Haendel
There are thousands of distinct disease entities and concepts, each of which are known by different and sometimes contradictory names. The lack of a unified system for managing these entities poses a major challenge for both machines and humans that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb95e9f275c4c5ac6590aa22f6896dbb
https://doi.org/10.1101/2022.04.13.22273750
https://doi.org/10.1101/2022.04.13.22273750
Autor:
Damian Smedley, Melissa A. Haendel, Leigh C. Carmody, Michael A. Gargano, Guy Karlebach, Julie A. McMurry, Courtney Thaxton, Peter N. Robinson, Justin T. Reese, Manuel Holtgrewe, Daniel Danis, Unc Biocuration Core, Xingmin Aaron Zhang, Julius O.B. Jacobsen, Sebastian Köhler, Vida Ravanmehr
Publikováno v:
Am J Hum Genet
Human Phenotype Ontology (HPO)-based analysis has become standard for genomic diagnostics of rare diseases. Current algorithms use a variety of semantic and statistical approaches to prioritize the typically long lists of genes with candidate pathoge
Autor:
Melissa A. Haendel, Sebastian Köhler, Xingmin Aaron Zhang, Michael A. Gargano, Julius O.B. Jacobsen, Courtney Thaxton, Manuel Holtgrewe, Vida Ravanmehr, Damian Smedley, Julie A. McMurry, Justin T. Reese, Peter N. Robinson, Unc Biocuration Core, Daniel Danis, Leigh C. Carmody
Human Phenotype Ontology (HPO)-based analysis has become standard for genomic diagnostics of rare diseases. Current algorithms use a variety of semantic and statistical approaches to prioritize the typically long lists of genes with candidate pathoge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f38b39ad794f6823fa72a01df2f3896
Autor:
David Osumi-Sutherland, Monica C Munoz-Torres, Melissa A Haendel, Christopher J Mungall, Peter N Robinson, Damian Smedley, Sebastian Köhler, Tudor Groza, Julie A McMurry, Julius O B Jacobsen, Anne Thessen, Courtney Thaxon, Andrea L Storm, Morgan Similuk, Erik Segerdell, James Seager, Paola Roncaglia, Sofia Robb, Erin Riggs, Justin Reese, Vida Ravanmehr, Tim Putman, Clare Pilgrim, Zoë M Pendlington, Craig McNamara, Suzanna E Lewis, Kenneth B Lett, Simon Jupp, Marcin Joachimiak, Maureen Hoatlin, Ingo Helbig, Midori Harris, Ada Hamosh, Jean-Phillipe Gourdine, Chris Grove, Petra Fey, Shahim Essaid, Nathan Dunn, Maria Della Rocca, Alayne Cuzick, Valentina Cipriani, Lauren E Chan, Leigh Carmody, Seth Carbon, Yvonne Bradford, Hannah Blau, Susan M Bello, Larry Babb, James P Balhoff, Xingmin Aaron Zhang, Nicole Vasilevsky, Tom Conlin, Daniel Keith, Matthew Brush, Deepak Unni, Nicolas Matentzoglu, Michael Gargano, Nomi L Harris, Kent A Shefchek
Publikováno v:
Nucleic Acids Research
Nucleic acids research, vol 48, iss D1
Nucleic acids research, vol 48, iss D1
In biology and biomedicine, relating phenotypic outcomes with genetic variation and environmental factors remains a challenge: patient phenotypes may not match known diseases, candidate variants may be in genes that haven’t been characterized, rese
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc89d5ffcfb17b6eb9273bcc5e531b52
https://repository.rothamsted.ac.uk/download/a072544d9d20321676bd38dfb9051b7821ad99a76e7e02f6932584b33aae70ed/3960982/Shefchek-2020-The-monarch-initiative-in--an-integ.pdf
https://repository.rothamsted.ac.uk/download/a072544d9d20321676bd38dfb9051b7821ad99a76e7e02f6932584b33aae70ed/3960982/Shefchek-2020-The-monarch-initiative-in--an-integ.pdf
Autor:
Peter N. Robinson, Nicole Vasilevsky, Xingmin Aaron Zhang, Julie A. McMurry, Sebastian Köhler, Jean-Philippe F. Gourdine, Monica Munoz-Torres, Melissa A. Haendel, Kent Shefchek, Matthew H. Brush, Nicolas Matentzoglu
Publikováno v:
Database: The Journal of Biological Databases and Curation
While abnormalities related to carbohydrates (glycans) are frequent for patients with rare and undiagnosed diseases as well as in many common diseases, these glycan-related phenotypes (glycophenotypes) are not well represented in knowledge bases (KBs
Publikováno v:
The Journal of Cell Biology
Zhang et al. conducted a siRNA screen of C2 domain proteins involved in regulated peptide secretion. One of the hits, a Munc13 family member BAIAP3, was characterized as endosome localized involved in post-exocytic dense-core vesicle protein recyclin
Autor:
Xingmin Aaron Zhang, Kimberly Robasky, Justin Ramsdill, Hao Xu, Christopher J. Mungall, Vida Ravanmehr, Adrianne L. Stefanski, Jean-Philippe F. Gourdine, Richard L. Zhu, Karamarie Fecho, Clement J. McDonald, Tiffany J. Callahan, Marcin P. Joachimiak, Blake Martin, Lawrence Hunter, James Champion, Amy Yates, Emily R. Pfaff, Nicole Vasilevsky, Tellen D. Bennett, Daniel Danis, Sebastian Köhler, David B. Peden, Melissa A. Haendel, Peter N. Robinson, Leigh C. Carmody, Daniel J. Vreeman, James A. Feinstein, Christopher G. Chute, Nephi A. Walton
Publikováno v:
NPJ digital medicine
NPJ digital medicine, vol 2, iss 1
npj Digital Medicine, Vol 2, Iss 1, Pp 1-9 (2019)
NPJ digital medicine, vol 2, iss 1
npj Digital Medicine, Vol 2, Iss 1, Pp 1-9 (2019)
Electronic Health Record (EHR) systems typically define laboratory test results using the Laboratory Observation Identifier Names and Codes (LOINC) and can transmit them using Fast Healthcare Interoperability Resource (FHIR) standards. LOINC has not
Autor:
Hao Xu, Peter N. Robinson, Melissa A. Haendel, Sebastian Köhler, Justin Ramsdill, Marcin P. Joachimiak, Karamarie Fecho, Vida Ravanmehr, Christopher J. Mungall, David B. Peden, Jean-Philippe F. Gourdine, James Champion, Nicole Vasilevsky, Nephi A. Walton, Leigh C. Carmody, Amy Yates, Richard L. Zhu, Daniel J. Vreeman, Christopher G. Chute, Emily R. Pfaff, Daniel Danis, Clement J. McDonald, Xingmin Aaron Zhang, Kimberly Robasky
Electronic Health Record (EHR) systems typically define laboratory test results using the Laboratory Observation Identifier Names and Codes (LOINC) and can transmit them using Fast Healthcare Interoperability Resource (FHIR) standards. LOINC has not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae84416698e184a18f3ef26bc89e7f9a
https://doi.org/10.1101/519231
https://doi.org/10.1101/519231
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:
Diogo F.T. Veiga, Xingmin Aaron Zhang, Melissa A. Haendel, Chatzou M, Jacques Banchereau, Barja Pp, Guy Karlebach, Peter N. Robinson, Chatzipantsiou C, Jeremy J. Yang, Anne Deslattes Mays, Peter Hansen, Julie A. McMurry, Robin Steinhaus, Olga Anczuków, Georgios Kararigas, Tudor I. Oprea, Anil K. Kesarwani, Daniel Danis, Dominik Seelow, Joshy George
Over 95% of human genes undergo alternative splicing (AS) in a developmental, tissue-specific, or signal transduction-dependent manner. Here, we present a large-scale survey of sex-biased differential alternative splicing (DAS) across 7027 samples of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e0452b97922213630034f3dd4c1884e
https://doi.org/10.1101/490904
https://doi.org/10.1101/490904