Rapid Exome and Genome Sequencing in the Intensive Care Unit

被引:5
|
作者
Muriello, Michael [1 ]
Basel, Donald [1 ]
机构
[1] Med Coll Wisconsin, Dept Pediat, Genet, 9000 W Wisconsin Ave,MC 716, Milwaukee, WI 53226 USA
关键词
Rapid genome sequencing; Rapid exome sequencing; Genomics in critical care; CRITICALLY-ILL INFANTS; MENDELIAN DISORDERS; CLINICAL UTILITY; DIAGNOSIS; CHILDREN;
D O I
10.1016/j.ccc.2021.11.001
中图分类号
R4 [临床医学];
学科分类号
1002 ; 100602 ;
摘要
[No abstract available]
引用
收藏
页码:173 / 184
页数:12
相关论文
共 50 条
  • [1] Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit
    Muriello, Michael
    CLINICS IN PERINATOLOGY, 2022, 49 (01) : 167 - +
  • [2] Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit
    Sanford Kobayashi, Erica
    Waldman, Bryce
    Engorn, Branden M.
    Perofsky, Katherine
    Allred, Erika
    Briggs, Benjamin
    Gatcliffe, Chelsea
    Ramchandar, Nanda
    Gold, Jeffrey J.
    Doshi, Ami
    Ingulli, Elizabeth G.
    Thornburg, Courtney D.
    Benson, Wendy
    Farnaes, Lauge
    Chowdhury, Shimul
    Rego, Seema
    Hobbs, Charlotte
    Kingsmore, Stephen F.
    Dimmock, David P.
    Coufal, Nicole G.
    FRONTIERS IN PEDIATRICS, 2022, 9
  • [3] Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit
    Smigiel, Robert
    Biela, Mateusz
    Szmyd, Krzysztof
    Bloch, Michal
    Szmida, Elzbieta
    Skiba, Pawel
    Walczak, Anna
    Gasperowicz, Piotr
    Kosinska, Joanna
    Rydzanicz, Malgorzata
    Stawinski, Piotr
    Biernacka, Anna
    Zielinska, Marzena
    Golebiowski, Waldemar
    Jalowska, Agnieszka
    Ohia, Grazyna
    Glowska, Bozena
    Walas, Wojciech
    Krolak-Olejnik, Barbara
    Krajewski, Pawel
    Sykut-Cegielska, Jolanta
    Sasiadek, Maria M.
    Ploski, Rafal
    JOURNAL OF CLINICAL MEDICINE, 2020, 9 (07) : 1 - 15
  • [4] PARENTAL PERCEPTIONS SURROUNDING RAPID WHOLE GENOME SEQUENCING IN THE NEONATAL INTENSIVE CARE UNIT
    Levy, R.
    Malone, Jenkins S.
    Plamquist, R.
    Solorzano, C.
    Bonkowsky, J. L.
    Torr, C.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2023, 71 (01) : NP583 - NP583
  • [5] RAPID WHOLE GENOME SEQUENCING CHANGES MANAGEMENT OF CHILDREN IN THE PEDIATRIC INTENSIVE CARE UNIT
    Kobayashi, Erica Sanford
    Farnaes, Lauge
    Bainbridge, Matthew
    Harvey, Helen
    Dimmock, David
    Coufal, Nicole
    Kingsmore, Stephen
    CRITICAL CARE MEDICINE, 2019, 47
  • [6] Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing
    Lauren S. Akesson
    Stefanie Eggers
    Clare J. Love
    Belinda Chong
    Emma I. Krzesinski
    Natasha J. Brown
    Tiong Y. Tan
    Christopher M. Richmond
    David R. Thorburn
    John Christodoulou
    Matthew F. Hunter
    Sebastian Lunke
    Zornitza Stark
    European Journal of Human Genetics, 2019, 27 : 1821 - 1826
  • [7] Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing
    Akesson, Lauren S.
    Eggers, Stefanie
    Love, Clare J.
    Chong, Belinda
    Krzesinski, Emma I.
    Brown, Natasha J.
    Tan, Tiong Y.
    Richmond, Christopher M.
    Thorburn, David R.
    Christodoulou, John
    Hunter, Matthew F.
    Lunke, Sebastian
    Stark, Zornitza
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 (12) : 1821 - 1826
  • [8] Is Rapid Exome Sequencing Standard of Care in the Neonatal and Pediatric Intensive Care Units?
    Kingsmore, Stephen F.
    JOURNAL OF PEDIATRICS, 2020, 226 : 14 - 15
  • [9] The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit
    Llorian, Elisabet Rodriguez
    Dragojlovic, Nick
    Campbell, Teresa M.
    Friedman, Jan M.
    Osiovich, Horacio
    Elliott, Alison M.
    Lynd, Larry D.
    GENETICS IN MEDICINE, 2022, 24 (08) : 1675 - 1683
  • [10] National Rapid Genome Sequencing in Neonatal Intensive Care
    Marom, Daphna
    Mory, Adi
    Reytan-Miron, Sivan
    Amir, Yam
    Kurolap, Alina
    Cohen, Julia Grinshpun
    Morhi, Yocheved
    Smolkin, Tatiana
    Cohen, Lior
    Zangen, Shmuel
    Shalata, Adel
    Riskin, Arieh
    Peleg, Amir
    Lavie-Nevo, Karen
    Mandel, Dror
    Chervinsky, Elana
    Fisch, Clari Felszer
    Sheffer, Vered Fleisher
    Falik-Zaccai, Tzipora C.
    Rips, Jonathan
    Shlomai, Noa Ofek
    Friedman, Smadar Eventov
    Shporen, Calanit Hershkovich
    Ben-Yehoshua, Sagie Josefsberg
    Simmonds, Aryeh
    Yaacobi, Racheli Goldfarb
    Bauer-Rusek, Sofia
    Omari, Hussam
    Weiss, Karin
    Hochwald, Ori
    Koifman, Arie
    Globus, Omer
    Batzir, Nurit Assia
    Yaron, Naveh
    Segel, Reeval
    Morag, Iris
    Reish, Orit
    Eliyahu, Aviva
    Leibovitch, Leah
    Schwartz, Marina Eskin
    Abramsky, Ramy
    Hochberg, Amit
    Oron, Anat
    Banne, Ehud
    Portnov, Igor
    Samra, Nadra Nasser
    Singer, Amihood
    Feldman, Hagit Baris
    JAMA NETWORK OPEN, 2024, 7 (02)