Literature DB >> 30100610

Genomic sequencing in acutely ill infants: what will it take to demonstrate clinical value?

Scott D Grosse1, Lauge Farnaes2,3.   

Abstract

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Mesh:

Year:  2018        PMID: 30100610      PMCID: PMC6691721          DOI: 10.1038/s41436-018-0124-3

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


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  8 in total

1.  Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

Authors:  Sebastian Lunke; Stefanie Eggers; Meredith Wilson; Chirag Patel; Christopher P Barnett; Jason Pinner; Sarah A Sandaradura; Michael F Buckley; Emma I Krzesinski; Michelle G de Silva; Gemma R Brett; Kirsten Boggs; David Mowat; Edwin P Kirk; Lesley C Adès; Lauren S Akesson; David J Amor; Samantha Ayres; Anne Baxendale; Sarah Borrie; Alessandra Bray; Natasha J Brown; Cheng Yee Chan; Belinda Chong; Corrina Cliffe; Martin B Delatycki; Matthew Edwards; George Elakis; Michael C Fahey; Andrew Fennell; Lindsay Fowles; Lyndon Gallacher; Megan Higgins; Katherine B Howell; Lauren Hunt; Matthew F Hunter; Kristi J Jones; Sarah King; Smitha Kumble; Sarah Lang; Maelle Le Moing; Alan Ma; Dean Phelan; Michael C J Quinn; Anna Richards; Christopher M Richmond; Jessica Riseley; Jonathan Rodgers; Rani Sachdev; Simon Sadedin; Luregn J Schlapbach; Janine Smith; Amanda Springer; Natalie B Tan; Tiong Y Tan; Suzanna L Temple; Christiane Theda; Anand Vasudevan; Susan M White; Alison Yeung; Ying Zhu; Melissa Martyn; Stephanie Best; Tony Roscioli; John Christodoulou; Zornitza Stark
Journal:  JAMA       Date:  2020-06-23       Impact factor: 56.272

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

Authors:  Erica F Sanford; Michelle M Clark; Lauge Farnaes; Matthew R Williams; James C Perry; Elizabeth G Ingulli; Nathaly M Sweeney; Ami Doshi; Jeffrey J Gold; Benjamin Briggs; Matthew N Bainbridge; Michele Feddock; Kelly Watkins; Shimul Chowdhury; Shareef A Nahas; David P Dimmock; Stephen F Kingsmore; Nicole G Coufal
Journal:  Pediatr Crit Care Med       Date:  2019-11       Impact factor: 3.624

3.  Perspectives of United States neonatologists on genetic testing practices.

Authors:  Monica H Wojcik; Maya C Del Rosario; Pankaj B Agrawal
Journal:  Genet Med       Date:  2022-03-15       Impact factor: 8.864

Review 4.  Clinical utility of genomic sequencing: a measurement toolkit.

Authors:  Robin Z Hayeems; David Dimmock; David Bick; John W Belmont; Robert C Green; Brendan Lanpher; Vaidehi Jobanputra; Roberto Mendoza; Shashi Kulkarni; Megan E Grove; Stacie L Taylor; Euan Ashley
Journal:  NPJ Genom Med       Date:  2020-12-15       Impact factor: 8.617

5.  The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems.

Authors:  Ainslie Tisdale; Christine M Cutillo; Ramaa Nathan; Pierantonio Russo; Bryan Laraway; Melissa Haendel; Douglas Nowak; Cindy Hasche; Chun-Hung Chan; Emily Griese; Hugh Dawkins; Oodaye Shukla; David A Pearce; Joni L Rutter; Anne R Pariser
Journal:  Orphanet J Rare Dis       Date:  2021-10-22       Impact factor: 4.123

6.  Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit.

Authors:  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
Journal:  Front Pediatr       Date:  2022-01-24       Impact factor: 3.418

7.  Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation.

Authors:  Robin Z Hayeems; Francois Bernier; Kym M Boycott; Taila Hartley; Christine Michaels-Igbokwe; Deborah A Marshall
Journal:  BMJ Open       Date:  2022-10-10       Impact factor: 3.006

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

Authors:  David P Dimmock; Michelle M Clark; Mary Gaughran; Julie A Cakici; Sara A Caylor; Christina Clarke; Michele Feddock; Shimul Chowdhury; Lisa Salz; Cynthia Cheung; Lynne M Bird; Charlotte Hobbs; Kristen Wigby; Lauge Farnaes; Cinnamon S Bloss; Stephen F Kingsmore
Journal:  Am J Hum Genet       Date:  2020-11-05       Impact factor: 11.043

  8 in total

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