An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

Autor: Dimmock, David P, Clark, Michelle M, Gaughran, Mary, Cakici, Julie A, Caylor, Sara A, Clarke, Christina, Feddock, Michele, Chowdhury, Shimul, Salz, Lisa, Cheung, Cynthia, Bird, Lynne M, Hobbs, Charlotte, Wigby, Kristen, Farnaes, Lauge, Bloss, Cinnamon S, Kingsmore, Stephen F, RCIGM Investigators

Publikováno v: American journal of human genetics, vol 107, iss 5

The second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study was a randomized, controlled trial of rapid whole-genome sequencing (rWGS) or rapid whole-exome sequencing (rWES) in infants with diseases of unknown etiology in inte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::d817f365d9f905babeedbf0ed1169035
https://escholarship.org/uc/item/289757jt

Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU

Autor: Sanford, Erica F, Clark, Michelle M, Farnaes, Lauge, Williams, Matthew R, Perry, James C, Ingulli, Elizabeth G, Sweeney, Nathaly M, Doshi, Ami, Gold, Jeffrey J, Briggs, Benjamin, Bainbridge, Matthew N, Feddock, Michele, Watkins, Kelly, Chowdhury, Shimul, Nahas, Shareef A, Dimmock, David P, Kingsmore, Stephen F, Coufal, Nicole G, RCIGM Investigators

Publikováno v: Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies, vol 20, iss 11

OBJECTIVES:Genetic disorders are a leading contributor to mortality in the neonatal ICU and PICU in the United States. Although individually rare, there are over 6,200 single-gene diseases, which may preclude a genetic diagnosis prior to ICU admissio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::52874d3ceeb04b8c872488db8ffba2b2
https://escholarship.org/uc/item/7165w94q

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Characterization of the Mas-related gene family: structural and functional conservation of human and rhesus MrgX receptors.

Autor: Burstein, Ethan S., Ott, Thomas R., Feddock, Michele, Jian-Nong Ma, Fuhs, Steve, Wong, Steven, Schiffer, Hans H., Brann, Mark R., Nash, Norman R.

Publikováno v: British Journal of Pharmacology; Jan2006, Vol. 147 Issue 1, p73-82, 10p, 1 Diagram, 1 Chart, 4 Graphs