Meeting the challenges of implementing rapid genomic testing in acute pediatric care.

Absorptive Capacity: A New Perspective on Learning and Innovation

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Implementing genomic medicine in the clinic: the future is here

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Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

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Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

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Use of Exome Sequencing for Infants in Intensive Care Units

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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

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Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

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Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Tan, T. Y., Dillon, O. J., Stark, Z., SCHOFIELD, D. J., Alam, K., Shrestha, R. N., Chong, B., Phelan, D., Brett, G. R., Creed, E., et al. (2017) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/jamapediatrics.2017.1755 · Cited by 327

Convergence of Implementation Science, Precision Medicine, and the Learning Health Care System: A New Model for Biomedical Research

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A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

Miller, N., Farrow, E., Gibson, M., Willig, L. K., Twist, G. P., Yoo, B., Marrs, T., Corder, S., Krivohlavek, L. A., Walter, A., et al. (2015) · Genome Medicine · doi:10.1186/s13073-015-0221-8 · Cited by 301

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Vissers, L. E. L. M., van Nimwegen, K. J. M., Schieving, J., Kamsteeg, E.-J., Kleefstra, T., Yntema, H. G., Pfundt, R., van der Wilt, G. J., Krabbenborg, L., Brunner, H. G., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.1 · Cited by 269

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

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Global implementation of genomic medicine: We are not alone

Manolio, T. A., Abramowicz, M., Al‐Mulla, F., Anderson, W. P., Balling, R., Berger, A. C., Bleyl, S. B., Chakravarti, A., Chantratita, W., Chisholm, R. L., et al. (2015) · Science Translational Medicine · doi:10.1126/scitranslmed.aab0194 · Cited by 240

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

Stark, Z., SCHOFIELD, D. J., Alam, K., Wilson, W., Mupfeki, N., Macciocca, I., Shrestha, R. N., White, S. M., & Gaff, C. (2017) · Genetics in Medicine · doi:10.1038/gim.2016.221 · Cited by 238

Rapid whole genome sequencing and precision neonatology

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Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

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Rapid Targeted Genomics in Critically Ill Newborns

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The current state of implementation science in genomic medicine: opportunities for improvement

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Cpipe: a shared variant detection pipeline designed for diagnostic settings

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Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

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Preparing for genomic medicine: a real world demonstration of health system change

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Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network’s Common Measures Working Group

Orlando, L. A., Sperber, N. R., Voils, C. I., Nichols, M., Myers, R. A., Wu, R. R., Rakhra-Burris, T. K., Levy, K. D., Levy, M. A., Pollin, T. I., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.144 · Cited by 79

Potential Psychosocial Risks of Sequencing Newborns

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Emergency medical genomes: a breakthrough application of precision medicine

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Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

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Discussing withholding and withdrawing of life‐sustaining medical treatment in paediatric inpatients: Audit of current practice

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A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data

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Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Manickam, K., McClain, M. R., Demmer, L., Biswas, S., Kearney, H. M., Malinowski, J. R., Massingham, L. J., Miller, D. E., Yu, T. W., & Hisama, F. M. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01242-6 · Cited by 675

Integrating Genomics into Healthcare: A Global Responsibility

Stark, Z., Dolman, L. I., Manolio, T. A., Ozenberger, B., Hill, S. L., Caulfied, M. J., Lévy, Y., Glazer, D., Wilson, J., Lawler, M., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.11.014 · Cited by 420

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

Kingsmore, S. F., Cakici, J. A., Clark, M. M., Gaughran, M., Feddock, M., Batalov, S., Bainbridge, M. N., Carroll, J. M., Caylor, S. A., Clarke, C., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.08.009 · Cited by 354

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

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Using an experiment among clinical experts to determine the cost and clinical impact of rapid whole exome sequencing in acute pediatric settings

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Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs

Chung, C. C. Y., Leung, G. K. C., Mak, C. C. Y., Fung, J. L. F., Lee, M., Pei, S. L. C., Yu, M. H. C., Hui, V. C. C., Chan, J. C. K., Chau, J. F. T., et al. (2020) · The Lancet Regional Health - Western Pacific · doi:10.1016/j.lanwpc.2020.100001 · Cited by 71

Rapid genomic testing in acute paediatric care: Is it worth the trouble?

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Implementation of First-Line Rapid Genome Sequencing in Non–Critical Care Pediatric Wards

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Rapid Whole-Genome Sequencing in Acutely Ill Children: A Single Pediatric Center Experience

Totapally, B., Jayakar, P., Diaz-Barbosa, M., Sasaki, J. D., Jayakar, A., Sendi, P. R., Soler, D., Janvier, M., Espinal, P., Gupta, A., et al. (2024) · Journal of Pediatric Intensive Care · doi:10.1055/s-0044-1790556 · Cited by 1