Literature DB >> 31688677

Rapid Whole Genome Sequencing and Fulfilling the Promise of Precision Pediatric Critical Care.

Kate F Kernan1, Lina Ghaloul-Gonzalez, Jerry Vockley, Joseph A Carcillo.   

Abstract

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Year:  2019        PMID： 31688677      PMCID： PMC7232857          DOI： 10.1097/PCC.0000000000002082

Source DB:  PubMed          Journal:  Pediatr Crit Care Med        ISSN： 1529-7535            Impact factor:   3.624


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  17 in total

Review 1.  Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes.

Authors:  John R Giudicessi; Michael J Ackerman
Journal:  Transl Res       Date:  2012-09-17       Impact factor: 7.012

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

Review 3.  Finding the missing heritability of complex diseases.

Authors:  Teri A Manolio; Francis S Collins; Nancy J Cox; David B Goldstein; Lucia A Hindorff; David J Hunter; Mark I McCarthy; Erin M Ramos; Lon R Cardon; Aravinda Chakravarti; Judy H Cho; Alan E Guttmacher; Augustine Kong; Leonid Kruglyak; Elaine Mardis; Charles N Rotimi; Montgomery Slatkin; David Valle; Alice S Whittemore; Michael Boehnke; Andrew G Clark; Evan E Eichler; Greg Gibson; Jonathan L Haines; Trudy F C Mackay; Steven A McCarroll; Peter M Visscher
Journal:  Nature       Date:  2009-10-08       Impact factor: 49.962

4.  Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.

Authors:  Zornitza Stark; Deborah Schofield; Khurshid Alam; William Wilson; Nessie Mupfeki; Ivan Macciocca; Rupendra Shrestha; Susan M White; Clara Gaff
Journal:  Genet Med       Date:  2017-01-26       Impact factor: 8.822

5.  Genome-wide association study of survival from sepsis due to pneumonia: an observational cohort study.

Authors:  Anna Rautanen; Tara C Mills; Anthony C Gordon; Paula Hutton; Michael Steffens; Rosamond Nuamah; Jean-Daniel Chiche; Tom Parks; Stephen J Chapman; Emma E Davenport; Katherine S Elliott; Julian Bion; Peter Lichtner; Thomas Meitinger; Thomas F Wienker; Mark J Caulfield; Charles Mein; Frank Bloos; Ilona Bobek; Paolo Cotogni; Vladimir Sramek; Silver Sarapuu; Makbule Kobilay; V Marco Ranieri; Jordi Rello; Gonzalo Sirgo; Yoram G Weiss; Stefan Russwurm; E Marion Schneider; Konrad Reinhart; Paul A H Holloway; Julian C Knight; Chris S Garrard; James A Russell; Keith R Walley; Frank Stüber; Adrian V S Hill; Charles J Hinds
Journal:  Lancet Respir Med       Date:  2014-12-18       Impact factor: 30.700

Review 6.  The Human Phenotype Ontology in 2017.

Authors:  Sebastian Köhler; Nicole A Vasilevsky; Mark Engelstad; Erin Foster; Julie McMurry; Ségolène Aymé; Gareth Baynam; Susan M Bello; Cornelius F Boerkoel; Kym M Boycott; Michael Brudno; Orion J Buske; Patrick F Chinnery; Valentina Cipriani; Laureen E Connell; Hugh J S Dawkins; Laura E DeMare; Andrew D Devereau; Bert B A de Vries; Helen V Firth; Kathleen Freson; Daniel Greene; Ada Hamosh; Ingo Helbig; Courtney Hum; Johanna A Jähn; Roger James; Roland Krause; Stanley J F Laulederkind; Hanns Lochmüller; Gholson J Lyon; Soichi Ogishima; Annie Olry; Willem H Ouwehand; Nikolas Pontikos; Ana Rath; Franz Schaefer; Richard H Scott; Michael Segal; Panagiotis I Sergouniotis; Richard Sever; Cynthia L Smith; Volker Straub; Rachel Thompson; Catherine Turner; Ernest Turro; Marijcke W M Veltman; Tom Vulliamy; Jing Yu; Julie von Ziegenweidt; Andreas Zankl; Stephan Züchner; Tomasz Zemojtel; Julius O B Jacobsen; Tudor Groza; Damian Smedley; Christopher J Mungall; Melissa Haendel; Peter N Robinson
Journal:  Nucleic Acids Res       Date:  2016-11-28       Impact factor: 16.971

7.  The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.

Authors:  Josh E Petrikin; Julie A Cakici; Michelle M Clark; Laurel K Willig; Nathaly M Sweeney; Emily G Farrow; Carol J Saunders; Isabelle Thiffault; Neil A Miller; Lee Zellmer; Suzanne M Herd; Anne M Holmes; Serge Batalov; Narayanan Veeraraghavan; Laurie D Smith; David P Dimmock; J Steven Leeder; Stephen F Kingsmore
Journal:  NPJ Genom Med       Date:  2018-02-09       Impact factor: 8.617

8.  Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation.

Authors:  Kate F Kernan; Lina Ghaloul-Gonzalez; Bita Shakoory; John A Kellum; Derek C Angus; Joseph A Carcillo
Journal:  Genes Immun       Date:  2018-07-06       Impact factor: 2.676

9.  Clinical sequencing: is WGS the better WES?

Authors:  Janine Meienberg; Rémy Bruggmann; Konrad Oexle; Gabor Matyas
Journal:  Hum Genet       Date:  2016-01-07       Impact factor: 4.132

10.  Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.

Authors:  Lamia Mestek-Boukhibar; Emma Clement; Wendy D Jones; Suzanne Drury; Louise Ocaka; Andrey Gagunashvili; Polona Le Quesne Stabej; Chiara Bacchelli; Nital Jani; Shamima Rahman; Lucy Jenkins; Jane A Hurst; Maria Bitner-Glindzicz; Mark Peters; Philip L Beales; Hywel J Williams
Journal:  J Med Genet       Date:  2018-07-26       Impact factor: 6.318
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  1 in total

Review 1.  The genetics of macrophage activation syndrome.

Authors:  Grant S Schulert; Randy Q Cron
Journal:  Genes Immun       Date:  2020-04-15       Impact factor: 2.676
  1 in total

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