Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?

[1]  Melbourne Genomics Health Alliance,et al.  Meeting the challenges of implementing rapid genomic testing in acute pediatric care , 2018, Genetics in Medicine.

[2]  Daniele Merico,et al.  Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test , 2017, Genetics in Medicine.

[3]  Jenny C. Taylor,et al.  Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature , 2018, Genetics in Medicine.

[4]  Melissa Martyn,et al.  Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness , 2018, Genetics in Medicine.

[5]  Fan Xia,et al.  Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management , 2017, JAMA pediatrics.

[6]  F. Rousseau,et al.  Controversy and debate on clinical genomics sequencing-paper 1: genomics is not exceptional: rigorous evaluations are necessary for clinical applications of genomic sequencing. , 2017, Journal of clinical epidemiology.

[7]  J. Friedman,et al.  Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater! , 2017, Journal of clinical epidemiology.

[8]  E. Arias,et al.  Deaths: Final Data for 2015. , 2017, National vital statistics reports : from the Centers for Disease Control and Prevention, National Center for Health Statistics, National Vital Statistics System.

[9]  Michael Brudno,et al.  Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray , 2017, European Journal of Human Genetics.

[10]  S. Timmermans,et al.  The Actionability of Exome sequencing testing results. , 2017, Sociology of health & illness.

[11]  E. McCann,et al.  Current evidence-based recommendations on investigating children with global developmental delay , 2017, Archives of Disease in Childhood.

[12]  Birgit Sikkema-Raddatz,et al.  Rapid Targeted Genomics in Critically Ill Newborns , 2017, Pediatrics.

[13]  Clara Gaff,et al.  Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions , 2017, JAMA pediatrics.

[14]  B. Fernandez,et al.  Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing , 2017, Clinical genetics.

[15]  B. Wilfond,et al.  Defining personal utility in genomics: A Delphi study , 2017, Clinical genetics.

[16]  Muin J Khoury,et al.  No Shortcuts on the Long Road to Evidence-Based Genomic Medicine. , 2017, JAMA.

[17]  S. Mostafavi,et al.  JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome. , 2017, The Journal of allergy and clinical immunology.

[18]  Kathryn A Phillips,et al.  Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research , 2017, Genetics in Medicine.

[19]  M. State,et al.  Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield , 2017, Molecular Psychiatry.

[20]  Gert Jan van der Wilt,et al.  A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology , 2017, Genetics in Medicine.

[21]  Clara Gaff,et al.  Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement , 2017, Genetics in Medicine.

[22]  Donna M. Muzny,et al.  Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation , 2017, The New England journal of medicine.

[23]  S. Terry An Evidence Framework for Genetic Testing. , 2017, Genetic testing and molecular biomarkers.

[24]  T. Trikalinos,et al.  Recommendations for Conduct, Methodological Practices, and Reporting of Cost-effectiveness Analyses: Second Panel on Cost-Effectiveness in Health and Medicine. , 2016, JAMA.

[25]  Anke M Hövels,et al.  Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability , 2016, Genetics in Medicine.

[26]  Levi C. T. Pierce,et al.  Deep sequencing of 10,000 human genomes , 2016, Proceedings of the National Academy of Sciences.

[27]  J. Mullikin,et al.  Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants. , 2016, Clinical chemistry.

[28]  S. Dopson,et al.  The limitations of QALY: a literature review , 2016 .

[29]  Clara Gaff,et al.  Patient safety in genomic medicine: an exploratory study , 2016, Genetics in Medicine.

[30]  Michael J Ackerman,et al.  Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience. , 2016, Mayo Clinic proceedings.

[31]  Michael Brudno,et al.  Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine , 2016, npj Genomic Medicine.

[32]  M. J. Deem Whole-Genome Sequencing and Disability in the NICU: Exploring Practical and Ethical Challenges , 2016, Pediatrics.

[33]  A. McGuire,et al.  Potential Psychosocial Risks of Sequencing Newborns , 2016, Pediatrics.

[34]  Laurie D. Smith,et al.  Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders. , 2016, Cold Spring Harbor perspectives in medicine.

[35]  Laurie D. Smith,et al.  Rapid whole genome sequencing and precision neonatology. , 2015, Seminars in perinatology.

[36]  Y. Bombard Translating personalized genomic medicine into clinical practice: evidence, values, and health policy. , 2015, Genome.

[37]  Gabor T. Marth,et al.  A global reference for human genetic variation , 2015, Nature.

[38]  N. Samani,et al.  QALYs in cost-effectiveness analysis: an overview for cardiologists , 2015, Heart.

[39]  Alexa B. R. McIntyre,et al.  Extensive sequencing of seven human genomes to characterize benchmark reference materials , 2015, Scientific Data.

[40]  J. Savulescu,et al.  Genomic intensive care: should we perform genome testing in critically ill newborns? , 2015, Archives of Disease in Childhood: Fetal and Neonatal Edition.

[41]  Stephen F. Kingsmore,et al.  Emergency medical genomes: a breakthrough application of precision medicine , 2015, Genome Medicine.

[42]  Laurie D. Smith,et al.  Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. , 2015, The Lancet. Respiratory medicine.

[43]  A. StAteMent Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics , 2015, Genetics in Medicine.

[44]  Xuan Yuan,et al.  Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders , 2014, Science Translational Medicine.

[45]  Magalie S Leduc,et al.  Molecular findings among patients referred for clinical whole-exome sequencing. , 2014, JAMA.

[46]  J. Moeschler,et al.  Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays , 2014, Pediatrics.

[47]  Leslie G Biesecker,et al.  Diagnostic clinical genome and exome sequencing. , 2014, The New England journal of medicine.

[48]  A. Janssens,et al.  Personal utility in genomic testing: is there such a thing? , 2014, Journal of Medical Ethics.

[49]  Eric E Schadt,et al.  Analytical validation of whole exome and whole genome sequencing for clinical applications , 2014, BMC Medical Genomics.

[50]  Eric Vilain,et al.  Assessing the necessity of confirmatory testing for exome sequencing results in a clinical molecular diagnostic laboratory , 2014, Genetics in Medicine.

[51]  D. Matchar,et al.  Methods Guide for Medical Test Reviews , 2012 .

[52]  Leslie G Biesecker,et al.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. , 2010, American journal of human genetics.

[53]  M. Weinstein,et al.  QALYs: the basics. , 2009, Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research.

[54]  F. Sassi Calculating QALYs, comparing QALY and DALY calculations. , 2006, Health policy and planning.

[55]  Muin J Khoury,et al.  What is the clinical utility of genetic testing? , 2006, Genetics in Medicine.

[56]  J. Witte,et al.  Comparison of missing data approaches in linkage analysis , 2003, BMC Genetics.

[57]  D. Fryback,et al.  HALYS and QALYS and DALYS, Oh My: similarities and differences in summary measures of population Health. , 2002, Annual review of public health.