Zobrazeno 1 - 10
of 199
pro vyhledávání: '"P N ROBINSON"'
Autor:
Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: “Ensuri
Externí odkaz:
https://doaj.org/article/669290e2ed32488ea080f09a5a972315
Autor:
Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, Roberta Anido, Diego Ardigò, Gareth Baynam, Hugh Dawkins, Ada Hamosh, Yann Le Cam, Helen Malherbe, Caron M. Molster, Lucia Monaco, Carmencita D. Padilla, Anne R. Pariser, Peter N. Robinson, Charlotte Rodwell, Franz Schaefer, Stefanie Weber, Flaminia Macchia
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)
Abstract Improving health and social equity for persons living with a rare disease (PLWRD) is increasingly recognized as a global policy priority. However, there is currently no international alignment on how to define and describe rare diseases. A g
Externí odkaz:
https://doaj.org/article/6511fb647b634113bca47862786d9736
Autor:
Emanuele Cavalleri, Alberto Cabri, Mauricio Soto-Gomez, Sara Bonfitto, Paolo Perlasca, Jessica Gliozzo, Tiffany J. Callahan, Justin Reese, Peter N. Robinson, Elena Casiraghi, Giorgio Valentini, Marco Mesiti
Publikováno v:
Scientific Data, Vol 11, Iss 1, Pp 1-24 (2024)
Abstract The “RNA world” represents a novel frontier for the study of fundamental biological processes and human diseases and is paving the way for the development of new drugs tailored to each patient’s biomolecular characteristics. Although s
Externí odkaz:
https://doaj.org/article/bf58cdba16da4012b04049f45ff9f53e
Autor:
S. J. Salisbury, R. Ruiz Daniels, S. J. Monaghan, J. E. Bron, P. R. Villamayor, O. Gervais, M. D. Fast, L. Sveen, R. D. Houston, N. Robinson, D. Robledo
Publikováno v:
BMC Biology, Vol 22, Iss 1, Pp 1-26 (2024)
Abstract Background Salmonid species have followed markedly divergent evolutionary trajectories in their interactions with sea lice. While sea lice parasitism poses significant economic, environmental, and animal welfare challenges for Atlantic salmo
Externí odkaz:
https://doaj.org/article/b95d5e067e594cc79185be9df68e1590
Autor:
Ben Coleman, Elena Casiraghi, Tiffany J. Callahan, Hannah Blau, Lauren E. Chan, Bryan Laraway, Kevin B. Clark, Yochai Re’em, Ken R. Gersing, Kenneth J. Wilkins, Nomi L. Harris, Giorgio Valentini, Melissa A. Haendel, Justin T. Reese, Peter N. Robinson
Publikováno v:
Translational Psychiatry, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Acute COVID-19 infection can be followed by diverse clinical manifestations referred to as Post Acute Sequelae of SARS-CoV2 Infection (PASC). Studies have shown an increased risk of being diagnosed with new-onset psychiatric disease followin
Externí odkaz:
https://doaj.org/article/9cd3c21c968443bd96aed34375fef247
Autor:
Tiffany J. Callahan, Ignacio J. Tripodi, Adrianne L. Stefanski, Luca Cappelletti, Sanya B. Taneja, Jordan M. Wyrwa, Elena Casiraghi, Nicolas A. Matentzoglu, Justin Reese, Jonathan C. Silverstein, Charles Tapley Hoyt, Richard D. Boyce, Scott A. Malec, Deepak R. Unni, Marcin P. Joachimiak, Peter N. Robinson, Christopher J. Mungall, Emanuele Cavalleri, Tommaso Fontana, Giorgio Valentini, Marco Mesiti, Lucas A. Gillenwater, Brook Santangelo, Nicole A. Vasilevsky, Robert Hoehndorf, Tellen D. Bennett, Patrick B. Ryan, George Hripcsak, Michael G. Kahn, Michael Bada, William A. Baumgartner, Lawrence E. Hunter
Publikováno v:
Scientific Data, Vol 11, Iss 1, Pp 1-22 (2024)
Abstract Translational research requires data at multiple scales of biological organization. Advancements in sequencing and multi-omics technologies have increased the availability of these data, but researchers face significant integration challenge
Externí odkaz:
https://doaj.org/article/2ba11bcf971c40478fb1f6a852218703
Publikováno v:
Diabetology, Vol 5, Iss 1, Pp 69-84 (2024)
Diabetes mellitus (type I and II) is an advancing global health problem, concerningly increasing in prevalence in most of the developed and developing world. Current therapies, such as the subcutaneous injection of insulin, are invasive and require a
Externí odkaz:
https://doaj.org/article/fbbb2f43ecfb4cde94cd22923d0738a7
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
Cell level functions underlie tissue and organ physiology. Gene expression patterns offer extensive views of the pathways and processes within and between cells. Single cell transcriptomics provides detailed information on gene expression within cell
Externí odkaz:
https://doaj.org/article/96a31126284142d295c95c546094b0dd
Autor:
Tudor Groza, Harry Caufield, Dylan Gration, Gareth Baynam, Melissa A. Haendel, Peter N. Robinson, Christopher J. Mungall, Justin T. Reese
Publikováno v:
BMC Medical Informatics and Decision Making, Vol 24, Iss 1, Pp 1-12 (2024)
Abstract Objective Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field. These processes r
Externí odkaz:
https://doaj.org/article/f4fb3d1859b74b69815dbe8519d05b0e
Publikováno v:
Cancer Control, Vol 31 (2024)
Background Although racial disparities in lung cancer incidence and mortality have diminished in recent years, lung cancer remains the second most diagnosed cancer among US Black populations. Many factors contributing to disparities in lung cancer ar
Externí odkaz:
https://doaj.org/article/999cad23b8ee4562afe645cb4e98bf0f