Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Marina DiStefano"'
Autor:
Courtney Thaxton, Leslie Biesecker, Marina DiStefano, Melissa Haendel, Emma Owens, Ada Hamosh, Sharon Plon, Heidi Rehm, Jonathan Berg
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101052- (2024)
Externí odkaz:
https://doaj.org/article/cc486d7309c641a2916403a0adce5590
Autor:
Marina DiStefano, Fowzan Alkuraya, Joanna Amberger, Christina Austin-Tse, Ola Austine, Marie Balzotti, Jonathan Berg, Elspeth Bruford, Alicia Byrne, Elena Cibrian-Uhalte, Alison Coffey, Helen Firth, Ada Hamosh, Sarah Hunt, Teri Klein, Catherine Kurtz, Sarah Leigh, Ivone Leong, Caterina Lucano, Sateesh Maddirevula, Audrey O'Neill, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Julie Taylor, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, James Ware, Bess Wayburn, Phillip Weller, Heidi Rehm
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101476- (2024)
Externí odkaz:
https://doaj.org/article/fd7a496fb21447cda656ca8034d9483a
Autor:
Pamela Ajuyah Robertson, Alicia Byrne, Julie Ratliff, Audrey O'Neill, Marina DiStefano, Deepika Burkardt, Carlos Ferreira, Kerry Brown
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101580- (2024)
Externí odkaz:
https://doaj.org/article/c974f8f1f6b94a8e833f0d4c819bba8b
Autor:
Ineke Cordova, Zo Bly, Jonathan Berg, Joanna Bulkley, Marina DiStefano, Teri Klein, Joannella Morales, Deborah Ritter, Erin Riggs
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101791- (2024)
Externí odkaz:
https://doaj.org/article/ce659b7831514f6ab9e95860b8e8377a
Autor:
Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100499- (2023)
Externí odkaz:
https://doaj.org/article/e75223815948439e9477ffcd46c3405b
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
Autor:
Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100498- (2023)
Externí odkaz:
https://doaj.org/article/33db357776d94cb5babd1aacc95aaecd
Autor:
Matthew Wright, Christine Preston, Karen Dalton, Gloria Cheung, Mark Mandell, Bryan Wulf, Lawrence Babb, Marina DiStefano, Steven Harrison, Clarissa Klein, Rachel Shapira, Ingrid Keseler, Deborah Ritter, Neethu Shah, Kevin Riehle, Aleksandar Milosavljevic, Sharon Plon, Teri Klein
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100738- (2023)
Externí odkaz:
https://doaj.org/article/8007ff815c8248d0bd46189da68917a3
Autor:
Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer L. Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo Lopez Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina DiStefano, Julianne M. O’Daniel, Kristy Lee, Erin R. Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah I. Ritter, Ronak Y. Patel, Sai Lakshmi Subramanian, Aleksander Milosavljevic, Jonathan S. Berg, Heidi L. Rehm, Sharon E. Plon, J. Michael Cherry, Carlos D. Bustamante, Helio A. Costa, on behalf of the Clinical Genome Resource (ClinGen)
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)
Abstract Background Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation sequencing technologies. However, the infrastructure and accessible compre
Externí odkaz:
https://doaj.org/article/c5ae77d69fae41bca5be493d02302150
Autor:
Ozlem Senol-Cosar, Rachel J. Roth Flach, Marina DiStefano, Anil Chawla, Sarah Nicoloro, Juerg Straubhaar, Olga T. Hardy, Hye Lim Noh, Jason K. Kim, Martin Wabitsch, Philipp E. Scherer, Michael P. Czech
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Expansion of visceral adipose tissue is usually associated with insulin resistance and metabolic disease. Here, the authors show that the membrane protein TNMD is upregulated in visceral fat of insulin resistant obese individuals and promotes healthy
Externí odkaz:
https://doaj.org/article/2b8301dcb67b41eabe00ec0fa2a01c48
Autor:
Marilyn M. Li, Ahmad Abou Tayoun, Marina DiStefano, Arti Pandya, Heidi L. Rehm, Nathaniel H. Robin, Amanda M. Schaefer, Christine Yoshinaga-Itano
Publikováno v:
Genetics in Medicine. 24:1392-1406