Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Rachel, Kuperman"'
Autor:
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta M. Cilio, Cynthia Curry, Renata C. Gallagher, Marisa Gardner, Rachel Kuperman, Bryce Mendelsohn, Elliott Sherr, Joseph Shieh, Jonathan Strober, Allison Tam, Jessica Tenney, William Weiss, Amy Whittle, Garrett Chin, Amanda Faubel, Hannah Prasad, Yusuph Mavura, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Teresa N. Sparks, Barbara Koenig, Sara Ackerman, Neil Risch, Pui-Yan Kwok, Mary E. Norton
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-10 (2023)
Abstract The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less focus on underrepresented minority (URM) and underserved (US) patients. We evaluated the diagnostic yield of ES in a co
Externí odkaz:
https://doaj.org/article/c19fcc01932947f88e053f92d2e0e021
Autor:
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta M. Cilio, Cynthia Curry, Renata C. Gallagher, Marisa Gardner, Rachel Kuperman, Bryce Mendelsohn, Elliott Sherr, Joseph Shieh, Jonathan Strober, Allison Tam, Jessica Tenney, William Weiss, Amy Whittle, Garrett Chin, Amanda Faubel, Hannah Prasad, Yusuph Mavura, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Teresa N. Sparks, Barbara Koenig, Sara Ackerman, Neil Risch, Pui-Yan Kwok, Mary E. Norton
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/b1f5932fcc964295b8b3d3403778b9ab
Autor:
David N Franz, Elena Belousova, Steven Sparagana, E Martina Bebin, Michael D Frost, Rachel Kuperman, Olaf Witt, Michael H Kohrman, J Robert Flamini, Joyce Y Wu, Paolo Curatolo, Petrus J de Vries, Noah Berkowitz, Julie Niolat, Sergiusz Jóźwiak
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0158476 (2016)
Everolimus, a mammalian target of rapamycin (mTOR) inhibitor, has demonstrated efficacy in treating subependymal giant cell astrocytomas (SEGAs) and other manifestations of tuberous sclerosis complex (TSC). However, long-term use of mTOR inhibitors m
Externí odkaz:
https://doaj.org/article/0d43c4ebf88b4776a48a925dfda8ac2a
Autor:
Stephanie K Ries, Alex D Clarke, David King-Stephen, Rachel Kuperman, Peter Brunner, Jack J Lin, Josef Parvizi, Nathan E Crone, Nina F Dronkers
Publikováno v:
Frontiers in Psychology, Vol 6 (2015)
Background Word selection refers to the act of choosing words as we speak. Different regions of the left lateral and medial prefrontal cortex (PFC), and left temporal cortex (LTC) are associated with word selection (Price, 2012) but their role and ho
Externí odkaz:
https://doaj.org/article/caa6d45d6daf4aa3bd9c54b7e075853f
Autor:
Rema Raman, Mary J. Harbert, Karin Ernstrom, Renee Bridge, Jose Honold, Ngoc Minh Le, Rachel Kuperman, Andrew Mower, Mark Nespeca, Priscilla Joe, Ellen Knodel, Richard H. Haas, Suzanne L. Davis, Kathy Arnell, Neggy Rismanchi, Lilly Lee, Jae H. Kim, Maynard Rasmussen, Sonya Wang, Cynthia Sharpe, Jeffrey J. Gold, Malcolm R. Battin, Gail E. Reiner, David Michelson, Brian Lane
Publikováno v:
Pediatrics
BACKGROUND AND OBJECTIVES: There are no US Food and Drug Administration–approved therapies for neonatal seizures. Phenobarbital and phenytoin frequently fail to control seizures. There are concerns about the safety of seizure medications in the dev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcf2a7c6d3f17dda8fff8b7bd51b2d80
https://pubmed.ncbi.nlm.nih.gov/33384298
https://pubmed.ncbi.nlm.nih.gov/33384298
Autor:
Ngoc Minh D Lee, Peter W. Reed, Neggy Rismanchi, David J Michelson, Cynthia Sharpe, Sonya Wang, Emma Macdonald-Laurs, Richard H. Haas, Mark Nespeca, Jeffrey J. Gold, Suzanne L. Davis, Rachel Kuperman
Publikováno v:
Archives of disease in childhood. Fetal and neonatal edition. 106(2)
ObjectiveProlonged continuous video-electroencephalography (cEEG) is recommended for neonates at risk of seizures. The cost and expertise required to provide a real-time response to detected seizures often limits its utility. We hypothesised that the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fa095a8d6f8ea94f43f6dfd975f242e
https://pubmed.ncbi.nlm.nih.gov/32928896
https://pubmed.ncbi.nlm.nih.gov/32928896
Autor:
Priscilla Joe, Rema Raman, Kathy Arnell, Karin Ernstrom, Maynard Rasmussen, Renee Bridge, Minh Le, Andrew Mower, Mark Nespeca, Jose Honold, Malcolm R. Battin, Jeffrey J. Gold, Ellen Knodel, Lilly Lee, Rachel Kuperman, David Michelson, Brian Lane, Neggy Rismanchi, Jae H. Kim, Sonya Wang, Gail E. Reiner, Suzanne L. Davis, Mary J. Harbert, Cynthia Sharpe, Richard H. Haas, Neolev Investigators
Publikováno v:
SSRN Electronic Journal.
Background: There are no FDA approved therapies for neonatal seizures. Previous studies demonstrated that phenobarbital (PHB) and phenytoin frequently fail to control seizures. There are concerns about the safety of seizure medications in the develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f286fa89bec78387a7f888067569587b
https://doi.org/10.2139/ssrn.3405581
https://doi.org/10.2139/ssrn.3405581
Autor:
Nathan E. Crone, Julia W. Y. Kam, Josef Parvizi, Robert T. Knight, Jack J. Lin, Kurtis I. Auguste, Rachel Kuperman, Sara M. Szczepanski, Adeen Flinker, Ryan T. Canolty, Heidi E. Kirsch
Publikováno v:
Cerebral Cortex. 28:9-20
Electrophysiology and neuroimaging provide conflicting evidence for the neural contributions to target detection. Scalp electroencephalography (EEG) studies localize the P3b event-related potential component mainly to parietal cortex, whereas neuroim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1c5bbe436f875cd829bc3d092ff1fc0
https://doi.org/10.1093/cercor/bhw343
https://doi.org/10.1093/cercor/bhw343
Autor:
Rachel Kuperman, Shifteh Sattar
Publikováno v:
Epilepsy & Behavior
Telehealth's first literature reference is an article in 1879 in the Lancet about using the telephone to reduce unnecessary office visits (Institute of Medicine & Board on Health Care Services, 2012). However, providers have been slow to adopt telehe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a1587f948fe67c9b1cdf4c95733a005
https://doi.org/10.1016/j.yebeh.2020.107282
https://doi.org/10.1016/j.yebeh.2020.107282
Autor:
Malcolm R. Battin, Jim Goodmar, Richard H. Haas, Jeffrey J. Gold, Mary Jane Harbert, Ellen Knodel, Marissa Gardner, Priscilla Joe, Gail E. Reiner, Suzanne L. Davis, Lilly Lee, Jose Honold, Brian Lane, Sonya Wang, Ben Castro, Renee Bridge, Deborah Rowe, Mark Nespeca, Kathy Arnell, Cynthia Sharpe, Rachel Kuperman, Maynard Rasmussen
Publikováno v:
Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society. 36(1)
Continuous video electroencephalography (cEEG) monitoring is the recommended gold standard of care for at-risk neonates but is not available in many Neonatal Intensive Care Units (NICUs). To conduct a randomized treatment trial of levetiracetam for t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c58101a91ce2b0e5cec83d4cfa367cf
https://pubmed.ncbi.nlm.nih.gov/30289769
https://pubmed.ncbi.nlm.nih.gov/30289769