Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Gabriella Ryan"'
Publikováno v:
Bio-Protocol, Vol 12, Iss 5 (2022)
The impact of viral diseases on human health is becoming increasingly prevalent globally with the burden of disease being shared between resource-rich and poor areas. As seen in the global pandemic caused by SARS-CoV-2, there is a need to establish v
Externí odkaz:
https://doaj.org/article/76589570a52947a088af4678d19b464e
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
Autor:
Xi Luo, Simone Feurstein, Shruthi Mohan, Christopher C. Porter, Sarah A. Jackson, Sioban Keel, Michael Chicka, Anna L. Brown, Chimene Kesserwan, Anupriya Agarwal, Minjie Luo, Zejuan Li, Justyne E. Ross, Panagiotis Baliakas, Daniel Pineda-Alvarez, Courtney D. DiNardo, Alison A. Bertuch, Nikita Mehta, Tom Vulliamy, Ying Wang, Kim E. Nichols, Luca Malcovati, Michael F. Walsh, Lesley H. Rawlings, Shannon K. McWeeney, Jean Soulier, Anna Raimbault, Mark J. Routbort, Liying Zhang, Gabriella Ryan, Nancy A. Speck, Sharon E. Plon, David Wu, Lucy A. Godley
Publikováno v:
Blood Advances, Vol 3, Iss 20, Pp 2962-2979 (2019)
Abstract: Standardized variant curation is essential for clinical care recommendations for patients with inherited disorders. Clinical Genome Resource (ClinGen) variant curation expert panels are developing disease-associated gene specifications usin
Externí odkaz:
https://doaj.org/article/147cccd407e042c69af7b468c729162f
Autor:
Taylor White, YoungChul Park, Gabriella Ryan, Steven Parez, Akelachi Okparanta, Blessida Miller, Brandon Easparro, Derrick Bunting, Zachary P. Morehouse, Will Todd, Veronica Colon, Caleb Proctor, Rodney J. Nash, James Atwood
Publikováno v:
SN Applied Sciences, Vol 3, Iss 8, Pp 1-7 (2021)
BackgroundThe use of Cannabis sativa, or hemp, in commercial, recreational, and pharmacological applications is on the rise in the United States and worldwide. Many of these applications have guidelines associated with them dependent on the concentra
The use of mechanical homogenization in patient sample preparation for COVID-19 diagnostics has proven impactful in the face of the global pandemic caused by SARS-CoV-2. Through methods including bead beating and shaker mill homogenization novel appr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::514998411a6c28ca4e205f58dc9f7d3e
http://www.intechopen.com/articles/show/title/the-utility-of-mechanical-homogenization-in-covid-19-diagnostic-workflows
http://www.intechopen.com/articles/show/title/the-utility-of-mechanical-homogenization-in-covid-19-diagnostic-workflows
Autor:
Kathleen Freson, Minjie Luo, Lori Luchtman-Jones, Paul F. Bray, Walter H. A. Kahr, Matthew T. Rondina, Justyne Ross, Shruthi Mohan, Kristy Lee, Sarah K Westbury, Juliana Perez Botero, Michele P. Lambert, Bing Zhang, Jorge Di Paola, Wolfgang Bergmeier, Paula G. Heller, Stefanie N Dugan, Brian R. Branchford, Gabriella Ryan
Publikováno v:
Blood Adv
Accurate and consistent sequence variant interpretation is critical to the correct diagnosis and appropriate clinical management and counseling of patients with inherited genetic disorders. To minimize discrepancies in variant curation and classifica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc3625331b9eeb6bc38a3226d682394c
https://lirias.kuleuven.be/handle/123456789/669646
https://lirias.kuleuven.be/handle/123456789/669646
Publikováno v:
Open Forum Infectious Diseases
Background As the number of viral diseases are on the rise, it is critical to continue to innovate and advance diagnostic, treatment, and surveillance methods surrounding viral infections. Currently, one of the most reliable methods for viral infecti
Accurate and timely testing has become an essential measure in combatting the COVID-19 global pandemic. Currently, polymerase chain reaction (PCR) based assays are the most relied on methods for SARS-CoV-2 detection. This traditional workflow involve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b15061df46083282ff47a4fce4eee25e
Publikováno v:
Virology Journal
Virology Journal, Vol 17, Iss 1, Pp 1-6 (2020)
Virology Journal, Vol 17, Iss 1, Pp 1-6 (2020)
Background Currently, one of the most reliable methods for viral infection detection are polymerase chain reaction (PCR) based assays. This process is time and resource heavy, requiring multiple steps of lysis, extraction, purification, and amplifica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f16803bcd0de715fcbe33c4845995fe
https://doi.org/10.21203/rs.3.rs-40525/v1
https://doi.org/10.21203/rs.3.rs-40525/v1
Autor:
Manja Meggendorfer, Alex H. Wagner, Torsten Haferlach, Mark D. Ewalt, Gabriella Ryan, Michelle M. Le Beau, David P. Steensma, Jamile M. Shammo, Xiaotu Ma, Rafael Bejar, Matthew J. Walter, Jinghui Zhang, Ahmet Zehir, Alexa J. Siddon, Annette S. Kim, Niroshan Nadarajah
Publikováno v:
Blood. 136:4-5
Background: With the rapid decline of sequencing costs and the introduction of next-generation sequencing (NGS) instruments with higher processing capacity, the rate-limiting step in reporting genetic test results is moving away from sequencing produ
ClinGen myeloid malignancy variant curation expert panel recommendations for germline RUNX1 variants
Autor:
Jean Soulier, Daniel E. Pineda-Alvarez, David Wu, Zejuan Li, Lucy A. Godley, Liying Zhang, Sharon E. Plon, Ying Wang, Anupriya Agarwal, Gabriella Ryan, Anna L. Brown, Nancy A. Speck, Kim E. Nichols, Luca Malcovati, Shruthi Mohan, Sarah A. Jackson, Panagiotis Baliakas, Xi Luo, Mark J. Routbort, Lesley Rawlings, Nikita Mehta, Justyne Ross, Sioban Keel, Minjie Luo, Chimene Kesserwan, Tom Vulliamy, Alison A. Bertuch, Shannon K. McWeeney, Courtney D. DiNardo, Simone Feurstein, Michael C. Chicka, Christopher C. Porter, Anna Raimbault, Michael Walsh
Standardized variant curation is essential for clinical care recommendations for patients with inherited disorders. Clinical Genome Resource (ClinGen) variant curation expert panels are developing disease-associated gene specifications using the 2015
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34340917b50abe57ae23d2a1c334c91c
https://hdl.handle.net/11541.2/140905
https://hdl.handle.net/11541.2/140905