Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Steven, Harrison"'
Autor:
Leslie Biesecker, Alicia Byrne, Steven Harrison, Tina Pesaran, Alejandro Schäffer, Brian Shirts, Sean Tavtigian, Heidi Rehm
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101616- (2024)
Externí odkaz:
https://doaj.org/article/ce4b03d094c64455bd2ab5d351966a68
Autor:
Eric Venner, Donna Muzny, Joshua D. Smith, Kimberly Walker, Cynthia L. Neben, Christina M. Lockwood, Phillip E. Empey, Ginger A. Metcalf, Chris Kachulis, The All of Us Research Program Regulatory Working Group, Sana Mian, Anjene Musick, Heidi L. Rehm, Steven Harrison, Stacey Gabriel, Richard A. Gibbs, Deborah Nickerson, Alicia Y. Zhou, Kimberly Doheny, Bradley Ozenberger, Scott E. Topper, Niall J. Lennon
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-13 (2022)
Abstract Background The All of Us Research Program (AoURP, “the program”) is an initiative, sponsored by the National Institutes of Health (NIH), that aims to enroll one million people (or more) across the USA. Through repeated engagement of part
Externí odkaz:
https://doaj.org/article/e910cd798cad40ff995d316fed013e1c
Autor:
Moriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, Eleanor Seaby, Eleina England, Jordan Wood, Rachel Son, Nicholas Watts, Konrad Karczewski, Steven Harrison, Daniel MacArthur, Heidi Rehm, Anne O'Donnell-Luria
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100606- (2023)
Externí odkaz:
https://doaj.org/article/fd7fd2f2170044c3b4749bc29ac01e56
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100710- (2023)
Externí odkaz:
https://doaj.org/article/1e89dccb0662485dae28a561a6c95b2f
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:
Luis F Sifuentes-Dominguez, Haiying Li, Ernesto Llano, Zhe Liu, Amika Singla, Ashish S Patel, Mahesh Kathania, Areen Khoury, Nicholas Norris, Jonathan J Rios, Petro Starokadomskyy, Jason Y Park, Purva Gopal, Qi Liu, Shuai Tan, Lillienne Chan, Theodora Ross, Steven Harrison, K Venuprasad, Linda A Baker, Da Jia, Ezra Burstein
Publikováno v:
eLife, Vol 8 (2019)
Inflammatory bowel disease (IBD) affects 1.5–3.0 million people in the United States. IBD is genetically determined and many common risk alleles have been identified. Yet, a large proportion of genetic predisposition remains unexplained. In this st
Externí odkaz:
https://doaj.org/article/dd63f37bb27b42538ad9d4b24982c8fb
Autor:
Melissa S Cline, Rachel G Liao, Michael T Parsons, Benedict Paten, Faisal Alquaddoomi, Antonis Antoniou, Samantha Baxter, Larry Brody, Robert Cook-Deegan, Amy Coffin, Fergus J Couch, Brian Craft, Robert Currie, Chloe C Dlott, Lena Dolman, Johan T den Dunnen, Stephanie O M Dyke, Susan M Domchek, Douglas Easton, Zachary Fischmann, William D Foulkes, Judy Garber, David Goldgar, Mary J Goldman, Peter Goodhand, Steven Harrison, David Haussler, Kazuto Kato, Bartha Knoppers, Charles Markello, Robert Nussbaum, Kenneth Offit, Sharon E Plon, Jem Rashbass, Heidi L Rehm, Mark Robson, Wendy S Rubinstein, Dominique Stoppa-Lyonnet, Sean Tavtigian, Adrian Thorogood, Can Zhang, Marc Zimmermann, BRCA Challenge Authors, John Burn, Stephen Chanock, Gunnar Rätsch, Amanda B Spurdle
Publikováno v:
PLoS Genetics, Vol 14, Iss 12, p e1007752 (2018)
The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate BRCA1 and BRCA2 data to support highly collaborative research activities. Its goal is to generate an informed and
Externí odkaz:
https://doaj.org/article/3d040669de2049168c109d5c746eac9a
Publikováno v:
Developmental Neuroscience. 44:331-343
Therapeutic hypothermia (TH) is now a standard treatment for infants with moderate-to-severe neonatal encephalopathy (NE), and improves brain damage on neuroimaging and neurodevelopmental outcomes. Critically, for effective neuroprotection, hypotherm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f10279c6f985c9a5f389c1a69b2bfaa
https://doi.org/10.1159/000522617
https://doi.org/10.1159/000522617
Autor:
Logan C. Walker, Miguel de la Hoya, George A.R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T Parsons, Daffodil M Canson, Dana Bis-Brewer, Ashley Cass, Alexander Tchourbanov, Heather Zimmermann, Alicia B Byrne, Tina Pesaran, Rachid Karam, Steven Harrison, Amanda B Spurdle
Publikováno v:
medRxiv
The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) framework for classifying variants uses six evidence categories related to the splicing potential of variants: PVS1 (null variant in a gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1284c302fbe39e32460ed49914de2ed3
https://europepmc.org/articles/PMC9980257/
https://europepmc.org/articles/PMC9980257/
Autor:
Shane Batie, Samuel Gold, Shaheer Ali, Daniel Wong, Niccolo Passoni, Steven Harrison, Nida Karra, Nathalia Amado, Jyothsna Gattineni, Linda Baker
Publikováno v:
Journal of Urology. 207
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f840c90679522acbe0279c9424afffb8
https://doi.org/10.1097/ju.0000000000002616.09
https://doi.org/10.1097/ju.0000000000002616.09