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

Absorptive Capacity: A New Perspective on Learning and Innovation

Cohen, W. M., & Levinthal, D. A. (1990) · Administrative Science Quarterly · doi:10.2307/2393553 · Cited by 35,728

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594

Fostering implementation of health services research findings into practice: a consolidated framework for advancing implementation science

Damschroder, L. J., Aron, D. C., Keith, R. E., Kirsh, S. R., Alexander, J. A., & Lowery, J. C. (2009) · Implementation Science · doi:10.1186/1748-5908-4-50 · Cited by 14,496

Implementing genomic medicine in the clinic: the future is here

Manolio, T. A., Chisholm, R. L., Ozenberger, B., Roden, D. M., Williams, M. S., Wilson, R., Bick, D. P., Böttinger, E. P., Brilliant, M. H., Eng, C., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2012.157 · Cited by 580

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

Soden, S. E., Saunders, C., Willig, L. K., Farrow, E., Smith, L. D., Petrikin, J. E., LePichon, J.-B., Miller, N., Thiffault, I., Dinwiddie, D. L., et al. (2014) · Science Translational Medicine · doi:10.1126/scitranslmed.3010076 · Cited by 525

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

Hagman, K. D. F., Shahmirzadi, L., El‐Khechen, D., Powis, Z., Chao, E., Davis, B. T., Baxter, R. M., Zeng, W., Mroske, C., Parra, M. C., et al. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.154 · Cited by 469

Use of Exome Sequencing for Infants in Intensive Care Units

Meng, L., Pammi, M., Saronwala, A., Magoulas, P. L., Ghazi, A. R., Vetrini, F., Zhang, J., He, W., Dharmadhikari, A. V., Qu, C., et al. (2017) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/jamapediatrics.2017.3438 · Cited by 429

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

Stark, Z., Tan, T. Y., Chong, B., Brett, G. R., Yap, P., Walsh, M., Yeung, A., Peters, H. L., Mordaunt, D., Cowie, S., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.1 · Cited by 398

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

Willig, L., Petrikin, J., Smith, L. D., Saunders, C., Thiffault, I., Miller, N. A., Soden, S., Cakici, J. A., Herd, S. M., Twist, G. P., et al. (2015) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(15)00139-3 · Cited by 340

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

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

Clark, M. M., Hildreth, A., Batalov, S., Ding, Y., Chowdhury, S., Watkins, K., Ellsworth, K., Camp, B., Kint, C. I., Yacoubian, C., et al. (2019) · Science Translational Medicine · doi:10.1126/scitranslmed.aat6177 · Cited by 300

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

Disease, N. B., French, C. E., Next Generation Children Project, Delon, I., Dolling, H., Sanchis‐Juan, A., Shamardina, O., Mégy, K., Abbs, S. J., Austin, T., et al. (2019) · Intensive Care Medicine · doi:10.1007/s00134-019-05552-x · Cited by 260

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

Australian Genomics Health Alliance Acute Care Flagship, Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., et al. (2020) · JAMA · doi:10.1001/jama.2020.7671 · Cited by 239

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

Dimmock, D., Clark, M. M., Gaughran, M., Cakici, J. A., Caylor, S. A., Clarke, C., Feddock, M., Chowdhury, S., Salz, L., Cheung, C., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.10.003 · Cited by 189

Rare disease emerging as a global public health priority

Chung, C. C. Y., Hong Kong Genome Project, Chu, A. T.-W., & Chung, B. H. (2022) · Frontiers in Public Health · doi:10.3389/fpubh.2022.1028545 · Cited by 203

Rapid whole genome sequencing has clinical utility in children in the PICU

Sanford, E. F., Clark, M. M., Farnaes, L., Williams, M. R., Perry, J. C., Ingulli, E. G., Sweeney, N. M., Doshi, A., Gold, J. J., Briggs, B., et al. (2019) · Pediatric Critical Care Medicine · doi:10.1097/pcc.0000000000002056 · Cited by 150

The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review

Dragojlovic, N., Borle, K. J., Kopac, N., Ellis, U. M., Birch, P. H., Adam, S., Friedman, J. M., Nisselle, A. E., Elliott, A. M., Lynd, L. D., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0825-2 · Cited by 130

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

Mestek, L., Clement, E. M., Jones, W. D., Drury, S., Ocaka, L., Gagunashvili, A. N., Stabej, P. L. Q., Bacchelli, C., Jani, N., Rahman, S., et al. (2018) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105396 · Cited by 129

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

Malinowski, J. R., Miller, D. T., Demmer, L., Gannon, J. L., Pereira, E. M., Schroeder, M. C., Scheuner, M. T., Tsai, A. C., Hickey, S. E., & Shen, J. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0771-z · Cited by 98

The Role of Genome Sequencing in Neonatal Intensive Care Units

Kingsmore, S. F., & Cole, F. S. (2022) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-120921-103442 · Cited by 101

Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations

Chung, C. C. Y., Hue, S. P. Y., Ng, N. Y. T., Doong, P. H. L., Chu, A. T.-W., & Chung, B. H. (2023) · Genetics in Medicine · doi:10.1016/j.gim.2023.100896 · Cited by 99

Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review

Kingsmore, S. F., Nofsinger, R. R., & Ellsworth, K. (2024) · npj Genomic Medicine · doi:10.1038/s41525-024-00404-0 · Cited by 94

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges

Elliott, A. M., du Souich, C., Lehman, A., Guella, I., Evans, D. M., Candido, T., Tooman, L. K., Armstrong, L., Clarke, L. A., Gibson, W. T., et al. (2019) · European Journal of Pediatrics · doi:10.1007/s00431-019-03399-4 · Cited by 90

Clinical utility of genomic sequencing: a measurement toolkit

Hayeems, R. Z., Dimmock, D., Bick, D. P., Belmont, J. W., Green, R. C., Lanpher, B. C., Jobanputra, V., Mendoza‐Londono, R., Kulkarni, S., Grove, M. E., et al. (2020) · npj Genomic Medicine · doi:10.1038/s41525-020-00164-7 · Cited by 92

Rapid Challenges: Ethics and Genomic Neonatal Intensive Care

Gyngell, C., Newson, A. J., Wilkinson, D. J. C., Stark, Z., & Savulescu, J. (2019) · PEDIATRICS · doi:10.1542/peds.2018-1099d · Cited by 78

Rapid genomic testing for critically ill children: time to become standard of care?

Stark, Z., & Ellard, S. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-021-00990-y · Cited by 72

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

A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy

Catchpool, M., Ramchand, J., Martyn, M. M., Hare, D. L., James, P. A., Trainer, A. H., Knight, J., & Goranitis, I. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0582-2 · Cited by 66

Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption

Franck, L. S., Kriz, R. M., Rego, S., Garman, K., Hobbs, C., & Dimmock, D. (2021) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2021.05.045 · Cited by 59

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

Minoche, A. E., Horvat, C., Johnson, R., Gayevskiy, V., Morton, S. U., Drew, A. P., Woo, K., Statham, A. L., Lundie, B., Bagnall, R. D., et al. (2018) · Genetics in Medicine · doi:10.1038/s41436-018-0084-7 · Cited by 62

Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.

(2020) · Europe PMC (PubMed Central) · Cited by 60

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

Freed, A. S., Candadai, S. V. C., Sikes, M. C., Thies, J. M., Byers, H. M., Dines, J. N., Ndugga-Kabuye, M. K., Smith, M. B., Fogus, K., Mefford, H. C., et al. (2020) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2020.06.020 · Cited by 60

Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing

Kingsmore, S. F., Henderson, A. J., Owen, M. J., Clark, M. M., Hansen, C., Dimmock, D., Chambers, C., Jelliffe‐Pawlowski, L. L., & Hobbs, C. A. (2020) · npj Genomic Medicine · doi:10.1038/s41525-020-00155-8 · Cited by 58

Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges

Hill, M. K., Hammond, J., Lewis, C., Mellis, R., Clement, E. M., & Chitty, L. S. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-0667-z · Cited by 54

Parental health spillover effects of paediatric rare genetic conditions

Wu, Y., Al‐Janabi, H., Mallett, A. J., Quinlan, C., Scheffer, I. E., Howell, K. B., Christodoulou, J., Leventer, R. J., Lockhart, P. J., Stark, Z., et al. (2020) · Quality of Life Research · doi:10.1007/s11136-020-02497-3 · Cited by 52

Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases

Incerti, D., Xu, X.-M., Chou, J. W., Gonzaludo, N., Belmont, J. W., & Schroeder, B. E. (2021) · Genetics in Medicine · doi:10.1016/j.gim.2021.08.015 · Cited by 49

Genetic counseling in pediatric acute care: Reflections on ultra‐rapid genomic diagnoses in neonates

Ayres, S., Gallacher, L., Stark, Z., & Brett, G. R. (2019) · Journal of Genetic Counseling · doi:10.1002/jgc4.1086 · Cited by 49

Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children

Goranitis, I., Wu, Y., Lunke, S., White, S. M., Tan, T. Y., Yeung, A., Hunter, M. F., Martyn, M. M., Gaff, C., & Stark, Z. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.01.013 · Cited by 49

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

Brett, G. R., Martyn, M., Lynch, F., de Silva, M. G., Ayres, S., Gallacher, L., Boggs, K., Baxendale, A., Schenscher, S., King-Smith, S., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0912-4 · Cited by 47

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

Beecroft, S. J., Yau, K. S., Allcock, R. J. N., Mina, K., Gooding, R., Faiz, F., Atkinson, V. J., Wise, C., Sivadorai, P., Trajanoski, D., et al. (2020) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51002 · Cited by 47

Current and future advances in genetic testing in systemic autoinflammatory diseases

Schnappauf, O., & Aksentijevich, I. A. (2019) · Lara D. Veeken · doi:10.1093/rheumatology/kez294 · Cited by 46

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

Kobayashi, E. S., Waldman, B. M., Engorn, B. M., Perofsky, K., Allred, E. T., Briggs, B. J., Gatcliffe, C., Ramchandar, N., Gold, J. J., Doshi, A., et al. (2022) · Frontiers in Pediatrics · doi:10.3389/fped.2021.809536 · Cited by 50

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

Friedman, J. M., Bombard, Y., Cornel, M. C., Fernandez, C. V., Junker, A. K., Plon, S. E., Stark, Z., & Knoppers, B. M. (2019) · Genetics in Medicine · doi:10.1038/s41436-018-0055-z · Cited by 44

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

Morton, S. U., Christodoulou, J., Costain, G., Muntoni, F., Wakeling, E. L., Wojcik, M. H., French, C. E., Szuto, A., Dowling, J. J., Cohn, R. D., et al. (2022) · JAMA Neurology · doi:10.1001/jamaneurol.2022.0067 · Cited by 47

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level

Best, S., Brown, H. L., Lunke, S., Patel, C., Pinner, J. R., Barnett, C., Wilson, M., Sandaradura, S. A., McClaren, B., Brett, G. R., et al. (2021) · npj Genomic Medicine · doi:10.1038/s41525-020-00168-3 · Cited by 47

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care.

Stark, Z., Nisselle, A., McClaren, B., Lynch, F., Best, S., Long, J. C., Martyn, M., Patel, C., Schlapbach, L. J., Barnett, C., et al. (2019) · European Journal of Human Genetics · doi:10.1038/s41431-019-0429-y · Cited by 43

Genetic Counseling and Genome Sequencing in Pediatric Rare DiseasePreprint

Elliott, A. M. (2019) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a036632 · Cited by 43

What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability

Ma, A. S., O’Shea, R., Wedd, L., Wong, C. M. Y., Jamieson, R. V., & Rankin, N. M. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-024-01555-5 · Cited by 42

A transformative translational change programme to introduce genomics into healthcare: a complexity and implementation science study protocol

Taylor, N. J., Best, S., Martyn, M. M., Long, J. C., North, K. N., Braithwaite, J., & Gaff, C. (2019) · BMJ Open · doi:10.1136/bmjopen-2018-024681 · Cited by 37

Rapid genome‐wide sequencing in a neonatal intensive care unit: A retrospective qualitative exploration of parental experiences

Aldridge, C. E., Osiovich, H. C., Siden, H. B., Study, R., Study, G., & Elliott, A. M. (2020) · Journal of Genetic Counseling · doi:10.1002/jgc4.1353 · Cited by 37

Genetic counseling considerations with rapid genome‐wide sequencing in a neonatal intensive care unit

Smith, E. E., du Souich, C., Dragojlovic, N., Study, C., Study, R., & Elliott, A. M. (2018) · Journal of Genetic Counseling · doi:10.1002/jgc4.1074 · Cited by 37

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

Scholz, T., Blohm, M. E. G., Kortüm, F., Bierhals, T., Lessel, D., van der Ven, A. T., Lisfeld, J., Herget, T., Kloth, K., Singer, D., et al. (2021) · Neonatology · doi:10.1159/000516890 · Cited by 35

Use of medical exome sequencing for identification of underlying genetic defects in NICU : Experience in a cohort of 2303 neonates in China

Yang, L., Wei, Z., Chen, X. '., Hu, L., Peng, X., Wang, J., Lu, C., Kong, Y., Dong, X., Ni, Q., et al. (2021) · Clinical Genetics · doi:10.1111/cge.14075 · Cited by 35

Rapid genome sequencing for pediatrics

Jezkova, J., Shaw, S., Taverner, N. V., & Williams, H. J. (2022) · Human Mutation · doi:10.1002/humu.24466 · Cited by 32

Rapid Whole-Genome Sequencing and Clinical Management in the PICU: A Multicenter Cohort, 2016–2023*

Rodriguez, K. M., Vaught, J., Salz, L., Foley, J., Boulil, Z., VanDongen-Trimmer, H., Whalen, D., Oluchukwu, O., Liu, K. C., Burton, J., et al. (2024) · Pediatric Critical Care Medicine · doi:10.1097/pcc.0000000000003522 · Cited by 31

Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations

Suzuki, H., Nozaki, M., Yoshihashi, H., Imagawa, K., Kajikawa, D., Yamada, M., Yamaguchi, Y., Morisada, N., Eguchi, M., Ohashi, S., et al. (2022) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2022.01.033 · Cited by 30

Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders

Carey, A. S., Schacht, J. P., Umandap, C. H., Fasel, D. A., Weng, C., Cappell, J., Chung, W. K., & Kernie, S. G. (2020) · Pediatric Research · doi:10.1038/s41390-020-0858-x · Cited by 29

Old Challenges or New Issues? Genetic Health Professionals’ Experiences Obtaining Informed Consent in Diagnostic Genomic Sequencing

Vears, D. F., Borry, P., Savulescu, J., & Koplin, J. J. (2020) · AJOB Empirical Bioethics · doi:10.1080/23294515.2020.1823906 · Cited by 28

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.

Akesson, L. S., Eggers, S., Love, C. J., Chong, B., Krzesinski, E. I., Brown, N. J., Tan, T. Y., Richmond, C. M., Thorburn, D. R., Christodoulou, J., et al. (2019) · European Journal of Human Genetics · doi:10.1038/s41431-019-0477-3 · Cited by 28

The clinical utility of rapid exome sequencing in a consanguineous population

Monies, D., Goljan, E., Binmanee, A., Al-Ashwal, A. A., Alsonbul, A., Al‐Hussaini, A. A., Abdallah, A. A., Albenmousa, A. H., Almehaidib, A. I., Hassan, A. S. A., et al. (2023) · Genome Medicine · doi:10.1186/s13073-023-01192-5 · Cited by 27

Genetic testing for unexplained perinatal disorders

Hays, T., & Wapner, R. J. (2021) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000999 · Cited by 26

Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment

Goranitis, I., Best, S., Christodoulou, J., Boughtwood, T. F., & Stark, Z. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-021-00874-1 · Cited by 29

Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing

German, K. R., Deutsch, G. H., Freed, A. S., Dipple, K. M., Chabra, S., & Bennett, J. T. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61096 · Cited by 26

Parents’ experiences of decision making for rapid genomic sequencing in intensive care

Lynch, F., Nisselle, A. E., Stark, Z., Gaff, C., & McClaren, B. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-021-00950-6 · Cited by 26

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

Denommé‐Pichon, A., Vitobello, A., Olaso, R., Ziegler, A. C., Jeanne, M., Mau‐Them, F. T., Couturier, V., Racine, C., Isidor, B., Pöe, C., et al. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-021-00998-4 · Cited by 26

Cost-effectiveness of whole-exome sequencing in progressive neurological disorders of children

Aaltio, J., Hyttinen, V., Kortelainen, M., Frederix, G., Lönnqvist, T. R. I., Suomalainen, A., & Isohanni, P. (2021) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2021.11.006 · Cited by 27

‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning

Bowman‐Smart, H., Vears, D. F., Brett, G. R., Martyn, M. M., Stark, Z., & Gyngell, C. (2022) · European Journal of Human Genetics · doi:10.1038/s41431-022-01140-8 · Cited by 26

Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation

McDermott, H., Sherlaw‐Sturrock, C., Baptista, J., Hartles-Spencer, L., & Naik, S. (2022) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2022.104571 · Cited by 25

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

Wenger, T. L., Scott, A. A., Kruidenier, L., Sikes, M. C., Keefe, A., Buckingham, K. J., Marvin, C. T., Shively, K. M., Bacus, T. J., Sommerland, O. M., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.02.003 · Cited by 24

Application of Next-Generation Sequencing for Genetic Diagnosis in Neonatal Intensive Care Units: Results of a Multicenter Study in China

Zhu, T., Gong, X., Bei, F., Ma, L., Chen, Y., Zhang, Y., Wang, X., Sun, J., Wang, J., Qiu, G., et al. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.565078 · Cited by 22

Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity

Yanes, T., Sullivan, A., Barbaro, P., Brion, K., Hollway, G. E., Peake, J., & McNaughton, P. B. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01321-z · Cited by 23

Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges

Candadai, S. V. C., Sikes, M. C., Thies, J. M., Freed, A. S., & Bennett, J. T. (2019) · Journal of Genetic Counseling · doi:10.1002/jgc4.1116 · Cited by 22

Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours

Bamborschke, D., Özdemir, Ö., Kreutzer, M., Motameny, S., Thiele, H., Kribs, A., Dötsch, J., Altmüller, J., Nürnberg, P., & Çırak, S. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61917 · Cited by 21

Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand

Kamolvisit, W., Phowthongkum, P., Boonsimma, P., Kuptanon, C., Rojnueangnit, K., Wattanasirichaigoon, D., Chanvanichtrakool, M., Phuaksaman, C., Wiromrat, P., Srichomthong, C., et al. (2021) · Clinical Genetics · doi:10.1111/cge.13963 · Cited by 20

Utilization and uptake of clinical genetics services in high-income countries: A scoping review

Dragojlovic, N., Kopac, N., Borle, K. J., Tandun, R., Salmasi, S., Ellis, U. M., Birch, P. H., Adam, S., Friedman, J. M., Elliott, A. M., et al. (2021) · Health Policy · doi:10.1016/j.healthpol.2021.04.010 · Cited by 20

Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine systemPreprint

Kingsmore, S. F., Ramchandar, N., James, K. N., Niemi, A., Feigenbaum, A., Ding, Y., Benson, W., Hobbs, C. A., Nahas, S., Chowdhury, S., et al. (2020) · Molecular Case Studies · doi:10.1101/mcs.a004705 · Cited by 20

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

Grosse, S. D., & Farnaes, L. (2019) · Genetics in Medicine · doi:10.1038/s41436-018-0124-3 · Cited by 19

The changing face of clinical genetics service delivery in the era of genomics: a framework for monitoring service delivery and data from a comprehensive metropolitan general genetics service

Fennell, A. P., Hunter, M. F., & Corboy, G. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0602-2 · Cited by 19

Theory Designed Strategies to Support Implementation of Genomics in Nephrology

Kansal, A., Quinlan, C., Stark, Z., Kerr, P. G., Mallett, A. J., Lakshmanan, C., Best, S., & Jayasinghe, K. (2022) · Genes · doi:10.3390/genes13101919 · Cited by 19

Rapid acute care genomics: Challenges and opportunities for genetic counselors

Lynch, F., Nisselle, A. E., Gaff, C., & McClaren, B. (2020) · Journal of Genetic Counseling · doi:10.1002/jgc4.1362 · Cited by 19

Genetic health professionals' experiences returning results from diagnostic genomic sequencing to patients

Vears, D. F., Sénécal, K., & Borry, P. (2019) · Journal of Genetic Counseling · doi:10.1002/jgc4.1209 · Cited by 19

Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit

Muriello, M. J. (2022) · Clinics in Perinatology · doi:10.1016/j.clp.2021.11.018 · Cited by 18

Translating genomic testing results for pediatric critical care: Opportunities for genetic counselors

Deuitch, N. T., Lee, S. S., & Char, D. S. (2019) · Journal of Genetic Counseling · doi:10.1002/jgc4.1182 · Cited by 18

Diagnostic utility of rapid sequencing in critically ill infants: a systematic review and meta-analysis

Xiao, F., Yan, K., Tang, M., Ji, X., Hu, L., Yang, L., & Zhou, W. (2022) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2022.2123704 · Cited by 18

Next generation sequencing in neonatology: what does it mean for the next generation?

Janvier, A., Barrington, K. J., & Lantos, J. D. (2022) · Human Genetics · doi:10.1007/s00439-022-02438-9 · Cited by 17

Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine

Kansal, R. (2025) · Children · doi:10.3390/children12040429 · Cited by 16

Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases

Kim, M. J., Kim, S. Y., Lee, J. S., Kang, S., Park, L.-J., Choi, W., Jung, J. Y., Kim, T., Park, S. S., Ko, J. M., et al. (2022) · Annals of Laboratory Medicine · doi:10.3343/alm.2023.43.3.280 · Cited by 15

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access

Ellard, S., Morgan, S., Wynn, S. L., Walker, S., Parrish, A., Mein, R., Juett, A., Ahn, J. W., Berry, I. R., Cassidy, E.-J., et al. (2024) · Journal of Medical Genetics · doi:10.1136/jmg-2024-110228 · Cited by 16

Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit

Tan, N. B., Tan, T. Y., Martyn, M. M., Savarirayan, R., Amor, D. J., Moody, A., White, S. M., & Stark, Z. (2019) · Journal of Paediatrics and Child Health · doi:10.1111/jpc.14398 · Cited by 15

A model to implement genomic medicine in the neonatal intensive care unit

Wojcik, M. H., D’Gama, A. M., & Agrawal, P. B. (2022) · Journal of Perinatology · doi:10.1038/s41372-022-01428-z · Cited by 15

When moments matter: Finding answers with rapid exome sequencing

Powis, Z., Hagman, K. D. F., Blanco, K., Au, M., Graham, J. M., Singh, K. E., Gallant, N. M., Randolph, L. M., Towne, M. C., Hunter, J. M., et al. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1027 · Cited by 15

Genomic medicine in neonatal care: progress and challenges

D’Gama, A. M., & Agrawal, P. B. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01464-z · Cited by 14

The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders

Beecroft, S. J., Lamont, P. J., Edwards, S., Goullée, H., Davis, M. R., Laing, N. G., & Ravenscroft, G. (2020) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-020-00495-2 · Cited by 14

Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia

Vears, D. F., Lynch, F., Nisselle, A. E., Ayres, S., & Stark, Z. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01477-8 · Cited by 14

A systematic review of knowledge, attitude and practice of pharmacogenomics in pediatric oncology patients

Moore, C., Lazarakis, S., Stenta, T., Alexander, M., Nguyen, R. P., Elliott, D. A., & Conyers, R. K. (2023) · Pharmacology Research & Perspectives · doi:10.1002/prp2.1150 · Cited by 13

Advances in our understanding of genetic kidney disease using kidney organoids

Little, M. H., & Quinlan, C. (2019) · Pediatric Nephrology · doi:10.1007/s00467-019-04259-x · Cited by 15

Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure

Richmond, C. M., Campbell, S., Foo, H. W., Lunke, S., Stark, Z., Moody, A., Bannister, E., Greenway, A., & Brown, N. (2020) · Molecular Syndromology · doi:10.1159/000505886 · Cited by 12

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

Pezzani, L., Pezzoli, L., Pansa, A., Facchinetti, B., Marchetti, D., Scatigno, A., Lincesso, A. R., Perego, L., Pingue, M., Pellicioli, I., et al. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1064 · Cited by 12

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

Bergen, N. J. V., Hock, D. H., Spencer, L., Massey, S., Stait, T. L., Stark, Z., Lunke, S., Roesley, A., Peters, H. L., Lee, J. Y., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23020986 · Cited by 10

Attitudes towards genetic testing and information: does parenthood shape the views?

Saastamoinen, A., Hyttinen, V., Kortelainen, M., Aaltio, J., Auranen, M., Ylikallio, E., Lönnqvist, T. R. I., Sainio, M. T., Suomalainen, A., Tyynismaa, H., et al. (2020) · Journal of Community Genetics · doi:10.1007/s12687-020-00462-8 · Cited by 12

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

Akesson, L. S., Bournazos, A., Fennell, A. P., Krzesinski, E. I., Tan, K., Springer, A., Rose, K., Goranitis, I., Francis, D. I., Lee, C., et al. (2020) · Human Mutation · doi:10.1002/humu.24101 · Cited by 12

Rapid Genetic Testing in Pediatric and Neonatal Critical Care: A Scoping Review of Emerging Ethical Issues

Chad, L., Anderson, J., Cagliero, D., Hayeems, R. Z., Ly, L. G., & Szuto, A. (2022) · Hospital Pediatrics · doi:10.1542/hpeds.2022-006654 · Cited by 13

A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders

Gonzalez, F. S., Hock, D. H., Thorburn, D. R., Mordaunt, D., Williamson, N. A., Ang, C., Stroud, D. A., Christodoulou, J., & Goranitis, I. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03462-w · Cited by 11

Healthcare Professionals’ Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care

Franck, L. S., Scheurer‐Monaghan, A., Bupp, C. P., Fakhoury, J., Hoffmann, T. J., Deshpandey, M., Arenchild, M., & Dimmock, D. (2022) · Children · doi:10.3390/children9030357 · Cited by 9

Implementing genomics in the neonatal period: An assessment of parental decision making and anxiety

Wainstein, T., Campbell, T., Stojkova, B. J., Lavoie, P. M., & Elliott, A. M. (2022) · Journal of Genetic Counseling · doi:10.1002/jgc4.1605 · Cited by 12

Analysis of laboratory reporting practices using a quality assessment of a virtual patient

Vears, D. F., Elferink, M., Kriek, M., Borry, P., & van Gassen, K. L. I. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-01015-7 · Cited by 10

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease

Marouane, A., Neveling, K., Deden, A. C., van den Heuvel, S., Zafeiropoulou, D., Castelein, S., van de Veerdonk, F. L., Koolen, D. A., Simons, A., Rodenburg, R. J., et al. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2023.1304520 · Cited by 9

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

Kapol, N., Kamolvisit, W., Kongkiattikul, L., Huang-Ku, E., Sribundit, N., Lochid-amnuay, S., Samprasit, N., Dulsamphan, T., Juntama, P., Suwanpanich, C., et al. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2023.1204853 · Cited by 2

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?

Stark, Z., Lunke, S., Brett, G. R., Tan, N. B., Stapleton, R., Kumble, S., Yeung, A., Phelan, D., Chong, B., Fanjul‐Fernández, M., et al. (2018) · Pathology · doi:10.1016/j.pathol.2017.12.138

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

Keefe, A., Scott, A. A., Kruidenier, L., Conta, J. H., Sternen, D. L., Candadai, S. V. C., Stasi, S. M., Parish‐Morris, J., Sikes, M. C., Adam, M. P., et al. (2025) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2025.114699 · Cited by 6

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