Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Erica Sanford Kobayashi"'
Autor:
Jennifer Schleit, Meredith Wright, Lauren Olsen, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo del Angel, Katarzyna (Kasia) Ellsworth, Annette Feigenbaum, Erwin Frise, Lucia Guidugli, Kevin Hall, Christian Hansen, Charlotte Hobbs, Mark Kiel, Chad Krilow, Chris Kunard, YongHyun Kwon, Rao Madhavrao, Shyamal Mehtalia, William Mowrey, Jennie Le, Jeremy Leipzig, Yupu Liang, Rebecca Mardach, Danny Oh, Mallory Owen, Liana Protopsaltis, Erica Sanford Kobayashi, Gunter Scharer, Brandon Schultz, Seth Shelnutt, Laurie Smith, Duke Tran, Lucita Van Der Kraan, Kristen Wigby, Mary Willis, Aaron Wolen, Mark Yandell, Thomas Defay, Stephen Kingsmore
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101043- (2024)
Externí odkaz:
https://doaj.org/article/5daec32c1b634cde9bb11add9157b198
Autor:
Eric Ontiveros, Liana Protopsaltis, Rebecca Baer, Matthew Bainbridge, Bryant Cao, Yan Ding, Katarzyna (Kasia) Ellsworth, Laura Forero, Erwin Frise, Lucia Guidugli, YongHyun Kwon, Jennie Le, Scott Oltman, Mallory Owen, Erica Sanford Kobayashi, Lucita Van Der Kraan, Meredith Wright, Mark Yandell, Laura Jelliffe-Pawlowski, Gretchen Bandoli, Christina Chambers, Stephen Kingsmore
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101053- (2024)
Externí odkaz:
https://doaj.org/article/63819eca9b15442a9543c6cdea32b6cc
Autor:
Caroline R. Stanclift, Selina S. Dwight, Kevin Lee, Quirine L. Eijkenboom, Matt Wilsey, Kristen Wilsey, Erica Sanford Kobayashi, Sandra Tong, Matthew N. Bainbridge
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
Abstract Purpose NGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic pathogenic NGLY1 variants. The aims of this study were to (1) characterize the variants and clinical features of the largest cohort of NGLY1 Deficiency pati
Externí odkaz:
https://doaj.org/article/22e982c08c3c4e699db286ae244a6d50
Autor:
Erica Sanford Kobayashi, Serge Batalov, Aaron M. Wenger, Christine Lambert, Harsharan Dhillon, Richard J. Hall, Primo Baybayan, Yan Ding, Seema Rego, Kristen Wigby, Jennifer Friedman, Charlotte Hobbs, Matthew N. Bainbridge
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-7 (2022)
Abstract Over the past decade, advances in genetic testing, particularly the advent of next-generation sequencing, have led to a paradigm shift in the diagnosis of molecular diseases and disorders. Despite our present collective ability to interrogat
Externí odkaz:
https://doaj.org/article/2babed2768f142b880a44252641b0f86
Autor:
Erika T. Allred, Elliot A. Perens, Nicole G. Coufal, Erica Sanford Kobayashi, Stephen F. Kingsmore, David P. Dimmock
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundCongenital heart defects (CHD) and congenital anomalies of the kidney and urinary tract (CAKUT) account for significant morbidity and mortality in childhood. Dozens of monogenic causes of anomalies in each organ system have been identified.
Externí odkaz:
https://doaj.org/article/80435b0aab524521b605df2281028b86
Autor:
Erica Sanford Kobayashi, Bryce Waldman, Branden M. Engorn, Katherine Perofsky, Erika Allred, Benjamin Briggs, Chelsea Gatcliffe, Nanda Ramchandar, Jeffrey J. Gold, Ami Doshi, Elizabeth G. Ingulli, Courtney D. Thornburg, Wendy Benson, Lauge Farnaes, Shimul Chowdhury, Seema Rego, Charlotte Hobbs, Stephen F. Kingsmore, David P. Dimmock, Nicole G. Coufal
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2022)
The diagnostic and clinical utility of rapid whole genome sequencing (rWGS) for critically ill children in the intensive care unit (ICU) has been substantiated by multiple studies, but comprehensive cost-effectiveness evaluation of rWGS in the ICU ou
Externí odkaz:
https://doaj.org/article/e4d764dcb81347038e600251a1741c59
Autor:
Bennet Peterson, Javier Hernandez, Charlotte Hobbs, Sabrina Malone Jenkins, Barry Moore, Edwin Juarez, Samuel Zoucha, Erica Sanford Kobayashi, Matthew N. Bainbridge, Albert Oriol, Luca Brunelli, Stephen Kingsmore, Mark Yandell
BackgroundRapidly and efficiently identifying critically ill infants for WGS is a costly and challenging task currently performed by scarce, highly trained experts, and is a major bottleneck for application of WGS in the NICU. Automated means to prio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aca74a5ecedf27756dec9fc820dc3f17
https://doi.org/10.1101/2022.05.06.22274688
https://doi.org/10.1101/2022.05.06.22274688
Autor:
Katherine Rodriguez, Erica Sanford Kobayashi, Heather VanDongen-Trimmer, Lisa Salz, Jennifer Foley, Drewann Whalen, Okonkwo Oluchukwu, Kuang Chuen Liu, Jennifer Burton, Prachi Syngal, Stephen Kingsmore, Nicole Coufal
Publikováno v:
Critical Care Medicine. 51:13-13
Autor:
Erica Sanford Kobayashi, Bryce Waldman, Branden M. Engorn, Katherine Perofsky, Erika Allred, Benjamin Briggs, Chelsea Gatcliffe, Nanda Ramchandar, Jeffrey J. Gold, Ami Doshi, Elizabeth G. Ingulli, Courtney D. Thornburg, Wendy Benson, Lauge Farnaes, Shimul Chowdhury, Seema Rego, Charlotte Hobbs, Stephen F. Kingsmore, David P. Dimmock, Nicole G. Coufal
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2022)
Frontiers in Pediatrics
Frontiers in Pediatrics
The diagnostic and clinical utility of rapid whole genome sequencing (rWGS) for critically ill children in the intensive care unit (ICU) has been substantiated by multiple studies, but comprehensive cost-effectiveness evaluation of rWGS in the ICU ou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f2a1510efb1b9e876d80f04759af76b
https://escholarship.org/uc/item/2r72n22q
https://escholarship.org/uc/item/2r72n22q