Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Josh E Petrikin"'
Implementation of the Neonatal Sepsis Calculator in Early-Onset Sepsis and Maternal Chorioamnionitis
Autor:
Julie Weiner, Janelle R Noel-Macdonnell PhD, Gangaram Akangire, Michael B. Sheehan, Elizabeth Simpson, Josh E Petrikin
Publikováno v:
Advances in neonatal care : official journal of the National Association of Neonatal Nurses. 20(1)
Background Utilization of the neonatal sepsis calculator published by Kaiser Permanente is rapidly increasing. This freely available online tool can be used in assessment of early-onset sepsis (EOS) in newborns 34 weeks' gestation or more based on ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9d5b5e7ea4d9b6b0cf03c1c9b006eca
https://pubmed.ncbi.nlm.nih.gov/31569094
https://pubmed.ncbi.nlm.nih.gov/31569094
Autor:
Lee Zellmer, Josh E Petrikin, Anne Holmes, David Dimmock, Serge Batalov, Narayanan Veeraraghavan, Laurie D. Smith, Carol J. Saunders, Emily G. Farrow, Nathaly M. Sweeney, Isabelle Thiffault, Suzanne Herd, Stephen F. Kingsmore, Steven J. Leeder, Neil A. Miller, Julie A. Cakici, Laurel K. Willig, Michelle M. Clark
Publikováno v:
NPJ Genomic Medicine
npj Genomic Medicine, Vol 3, Iss 1, Pp 1-11 (2018)
npj Genomic Medicine, Vol 3, Iss 1, Pp 1-11 (2018)
Genetic disorders are a leading cause of morbidity and mortality in infants in neonatal and pediatric intensive care units (NICU/PICU). While genomic sequencing is useful for genetic disease diagnosis, results are usually reported too late to guide i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba4553eb224c22d13abf9805dc5cdfd9
https://doi.org/10.1038/s41525-018-0045-8
https://doi.org/10.1038/s41525-018-0045-8
Autor:
Stephen F. Kingsmore, John Lesko, Julie A. Cakici, Laurel K. Willig, Kali Detherage, Aaron Noll, Emily G. Farrow, Byunggil Yoo, Angela Newton, Linda D. Cooley, Josh E Petrikin, Laurie D. Smith, Isabelle Thiffault, Neil A. Miller, Stephanie Fiedler, Carol J Saunders
Publikováno v:
NPJ Genomic Medicine
Optimal management of acutely ill infants with monogenetic diseases requires rapid identification of causative haplotypes. Whole-genome sequencing (WGS) has been shown to identify pathogenic nucleotide variants in such infants. Deletion structural va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a95d6f28891e04b8c8bdddbbe23f33c3
https://doi.org/10.1038/npjgenmed.2016.26
https://doi.org/10.1038/npjgenmed.2016.26
Autor:
Julie A. Cakici, Darrell L. Dinwiddie, Laurel K. Willig, Margaret Gibson, J. Steven Leeder, Josh E Petrikin, Stephen F. Kingsmore, Amanda K. Riffel, Andrea Gaedigk, Suzanne Herd, Greyson P Twist, Emily G. Farrow, Deendayal Dinakarpandian, Sarah E Soden, Neil A. Miller
Publikováno v:
NPJ Genomic Medicine
An important component of precision medicine—the use of whole-genome sequencing (WGS) to guide lifelong healthcare—is electronic decision support to inform drug choice and dosing. To achieve this, automated identification of genetic variation in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22c3d51f4f64d926dcd2b1d5c158e020
https://doi.org/10.1038/npjgenmed.2015.7
https://doi.org/10.1038/npjgenmed.2015.7
Autor:
Julie A. Cakici, Laurel K. Willig, Carol J Saunders, Adam Walter, Severine Catreux, Laurie D. Smith, Isabelle Thiffault, Lisa Ann Krivohlavek, Josh E Petrikin, Mike Ruehle, Suzanne Herd, Darrell L. Dinwiddie, Margaret Gibson, Tyler Marrs, Stephen F. Kingsmore, Sarah E Soden, Shane Corder, Byunggil Yoo, Greyson P Twist, Emily G. Farrow, Neil A. Miller
Publikováno v:
Genome Medicine
While the cost of whole genome sequencing (WGS) is approaching the realm of routine medical tests, it remains too tardy to help guide the management of many acute medical conditions. Rapid WGS is imperative in light of growing evidence of its utility
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca7b9e2b6d25056bcb6aee4a2bb8f43b
https://doi.org/10.1186/s13073-015-0221-8
https://doi.org/10.1186/s13073-015-0221-8
Autor:
Sarah L Tsai, Carol J Saunders, Julie A. Cakici, Greyson P Twist, Isabelle Thiffault, Emily G. Farrow, Laurel K. Willig, Shannon L. Carpenter, Howard W. Kilbride, Ryan McDonough, Mitchell Creed, Ryan T. Fischer, Josh E Petrikin, J Allyson Hays, Jamie L Rosterman, Aaron Noll, Mark A. Clements, Laurie D. Smith, Sarah E Soden, Stephen F. Kingsmore, Suzanne Herd, Lee Zellmer, Neil A. Miller, Patria M Alba
Publikováno v:
The Lancet. Respiratory medicine. 3(5)
Summary Background Genetic disorders and congenital anomalies are the leading causes of infant mortality. Diagnosis of most genetic diseases in neonatal and paediatric intensive care units (NICU and PICU) is not sufficiently timely to guide acute cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a3b58a723f5a623c9c545c5f66de650
https://pubmed.ncbi.nlm.nih.gov/25937000
https://pubmed.ncbi.nlm.nih.gov/25937000
Autor:
Laurel K. Willig, Ann C. Modrcin, Zhaohui Ye, Nicole P. Safina, Darrell L. Dinwiddie, Aaron Noll, Carol J Saunders, Xuan Yuan, Josh E Petrikin, Sarah S. Nyp, Robert A. Brodsky, Britton Zuccarelli, Mitchell Creed, Jean Baptiste LePichon, Neil A. Miller, Laurie D. Smith, Isabelle Thiffault, Lee Zellmer, Suzanne Herd, Andrea M. Atherton, Sarah E Soden, Bryce A. Heese, Ahmed Abdelmoity, Greyson P Twist, Emily G. Farrow, Stephen F. Kingsmore, Ingrid A. Larson
Publikováno v:
Science Translational Medicine. 6
Neurodevelopmental disorders (NDDs) affect more than 3% of children and are attributable to single-gene mutations at more than 1000 loci. Traditional methods yield molecular diagnoses in less than one-half of children with NDD. Whole-genome sequencin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::451cbf91f767c881f986a572affa97ec
https://doi.org/10.1126/scitranslmed.3010076
https://doi.org/10.1126/scitranslmed.3010076
Publikováno v:
Genome Medicine
Today there exist two medical applications where relatively strong evidence exists to support the broad adoption of genome-informed precision medicine. These are the differential diagnosis of single gene diseases and genotype-based selection of patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba70f1afe00c7f9b2f387239b4d5a073