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

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

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

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

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Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders

Wigby, K. M., Brockman, D., Costain, G., Hale, C. L., Taylor, S. L., Belmont, J. W., Bick, D. P., Dimmock, D., Fernbach, S. D., Greally, J. M., et al. (2024) · npj Genomic Medicine · doi:10.1038/s41525-024-00396-x · Cited by 38 · see citing works

Bacterial Infections in Intensive Care Units: Epidemiological and Microbiological Aspects

Calvo, M., Stefani, S., & Migliorisi, G. (2024) · Antibiotics · doi:10.3390/antibiotics13030238 · Cited by 34 · see citing works

Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States

Diaby, V., Babcock, A., Huang, Y., Moussa, R. K., Espinal, P. S., Janvier, M., Soler, D., Gupta, A., Jayakar, P., Diaz-Barbosa, M., et al. (2022) · The Pharmacogenomics Journal · doi:10.1038/s41397-022-00277-5 · Cited by 33 · see citing works

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 30 · see citing works

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 · see citing works

Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

Peterson, B. D., Hernandez, E. J., Hobbs, C. A., Jenkins, S. M., Moore, B., Juarez, E. F., Zoucha, S., Kobayashi, E. S., Bainbridge, M. N., Frise, E., et al. (2023) · Genome Medicine · doi:10.1186/s13073-023-01166-7 · Cited by 27 · see citing works

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 · see citing works

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 · see citing works

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis

Kernan, K. F., Ghaloul‐Gonzalez, L., Vockley, J. E., Lamb, J., Hollingshead, D. J., Chandran, U. R., Sethi, R., Park, H. J., Berg, R. A., WESSEL, D. L., et al. (2022) · Journal of Clinical Immunology · doi:10.1007/s10875-021-01183-4 · Cited by 25 · see citing works

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 · see citing works

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 · see citing works

Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders

Ouyang, X., Zhang, Y., Zhang, L., Luo, J., Zhang, T., Hu, H., Liu, L., Zhong, L., Zeng, S., Xu, P., et al. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.725259 · Cited by 25 · see citing works

Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing

Liu, P., & Vossaert, L. (2022) · Prenatal Diagnosis · doi:10.1002/pd.6146 · Cited by 24 · see citing works

Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective

Félix, T. M., de Souza, C. F. M., Oliveira, J. B., Rico-Restrepo, M., Zanoteli, E., Zatz, M., & Giugliani, R. (2023) · International Journal for Equity in Health · doi:10.1186/s12939-022-01809-y · Cited by 23 · see citing works

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

French, C. E., Dolling, H., Mégy, K., Sanchis‐Juan, A., Kumar, A. A., Delon, I., Wakeling, M. N., Mallin, L., Agrawal, S., Austin, T., et al. (2022) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2022.100113 · Cited by 20 · see citing works

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 · see citing works

Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysisPreprint

Kobayashi, E. S., Jones, M. C., Brigger, M. T., Hammer, M. B., Giudugli, L., Kingsmore, S. F., Dimmock, D., & Bainbridge, M. N. (2020) · Molecular Case Studies · doi:10.1101/mcs.a005611 · Cited by 19 · see citing works

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 · see citing works

Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment

Xie, J., Jiang, J., & Guo, Q. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2021.776807 · Cited by 17 · see citing works

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 15 · see citing works

The diagnostic trajectory of infants and children with clinical features of genetic disease

Schroeder, B. E., Gonzaludo, N., Everson, K., Than, K., Sullivan, J., Taft, R. J., & Belmont, J. W. (2021) · npj Genomic Medicine · doi:10.1038/s41525-021-00260-2 · Cited by 17 · see citing works

Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics

Palmquist, R. N., Jenkins, S. M., Bentley, D., Miller, C., Mao, R., Meibos, B., Bayrak‐Toydemir, P., Tvrdik, T., Nadauld, L. D., Bleyl, S. B., et al. (2022) · Pediatric Research · doi:10.1038/s41390-022-01965-5 · Cited by 16 · see citing works

Whole‐genome sequencing holds the key to the success of gene‐targeted therapies

Vockley, J. E., Aartsma-Rus, A. M., Cohen, J. L., Cowsert, L. M., Howell, R. R., Yu, T. W., Wasserstein, M., & Defay, T. (2022) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32017 · Cited by 14 · see citing works

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit

Liu, J., Yu, Z., Huang, J., Zhu, D., Zang, P., Luo, Z., Yang, Y., Peng, Y., Xiao, Z., Zhu, Y., et al. (2021) · Human Mutation · doi:10.1002/humu.24266 · Cited by 11 · see citing works

Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting

Thompson, L., Larson, A. A., Salz, L., Veith, R. L., Tsai, J.-P., Jayakar, A., Chapman, R. L., Gupta, A., Kingsmore, S. F., Dimmock, D., et al. (2024) · Frontiers in Pediatrics · doi:10.3389/fped.2024.1349519 · Cited by 12 · see citing works

Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China

Liu, Y., Hao, C., Li, K., Hu, X., Gao, H., Zeng, J., Guo, R., Liu, J., Guo, J. F., Li, Z., et al. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.677699 · Cited by 13 · see citing works

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 11 · see citing works

Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline

Beaman, M. M., Fisher, K. A., McDonald, M., Tan, Q. K. ‐., Jackson, D., Cocanougher, B., Landstrom, A. P., Hobbs, C. A., Cotten, M., & Cohen, J. L. (2022) · Journal of Personalized Medicine · doi:10.3390/jpm12111924 · Cited by 10 · see citing works

Wales Infants’ and childreN’s Genome Service (WINGS): providing rapid genetic diagnoses for unwell children

Sloper, E., Jezkova, J., Thomas, J., Dawson, K., Halstead, J., Gardner, J. M., Burke, K., Oruganti, S., Calvert, J., Evans, J., et al. (2024) · Archives of Disease in Childhood · doi:10.1136/archdischild-2023-326579 · Cited by 10 · see citing works

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 · see citing works

Child Neurology: Late-Onset Vitamin B 6 –Dependent Epilepsy Identified by Rapid Genome Sequencing

Espinoza, A. C., Wright, M. A., Candee, M. S., Trandafir, C., & Nelson, G. R. (2021) · Neurology · doi:10.1212/wnl.0000000000011891 · Cited by 10 · see citing works

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

Kernan, K. F., Ghaloul‐Gonzalez, L., Vockley, J. E., & Carcillo, J. A. (2019) · Pediatric Critical Care Medicine · doi:10.1097/pcc.0000000000002082 · Cited by 10 · see citing works

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 · see citing works

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

Nicholas, T. J., Al‐Sweel, N., Farrell, A., Mao, R., Bayrak‐Toydemir, P., Miller, C. E., Bentley, D., Palmquist, R. N., Moore, B., Hernandez, E. J., et al. (2022) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1888 · Cited by 9 · see citing works

Ethical Considerations of Genome Sequencing for Pediatric Patients

Sergi, M., Keinath, M. C., Fanaroff, J. M., & Miller, K. E. (2023) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2023.101039 · Cited by 9 · see citing works

Clinical genome sequencing: Three years’ experience at a tertiary children’s hospital

Kumar, R. D., Saba, L. F., Streff, H. E., Shaw, C. A., Mizerik, E. A., Snyder, M. T., Lopez-Terrada, D. H., & Scull, J. C. (2023) · Genetics in Medicine · doi:10.1016/j.gim.2023.100916 · Cited by 9 · see citing works

A systematic review of the assessment of the clinical utility of genomic sequencing: Implications of the lack of standard definitions and measures of clinical utility

Azuelos, C., Marquis, M.-A., & Laberge, A.-M. (2024) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2024.104925 · Cited by 8 · see citing works

Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

Kim, S. J., Pistawka, C. A., Langlois, S., Osiovich, H. C., Virani, A., Kitchin, V., Study, G., & Elliott, A. M. (2023) · Clinical Genetics · doi:10.1111/cge.14446 · Cited by 8 · see citing works

Whole genome sequencing as a first‐tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil

Migliavacca, M. P., Sobreira, J., Bermeo, D., Gomes, M., Alencar, D. O., da Silva, L. S., Souza, C. A., Silva, J. S., Kroll, J. E., Bürger, M. C., et al. (2024) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63544 · Cited by 8 · see citing works

Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study

Hao, C., Guo, R., Liu, J., Hu, X., Guo, J. F., Yao, Y., Zhao, Z., Qi, Z., Yin, J., Chen, L., et al. (2021) · Human Mutation · doi:10.1002/humu.24216 · Cited by 8 · see citing works

Leveraging Rapid Genome Sequencing to Alter Care Plans for Pediatric Patients in a Community Hospital Setting in the United States

Beuschel, J. J., Geyer, H., Rich, M., Leimanis, M. L., Kampfschulte, A., VanSickle, E., Rajasekaran, S., & Bupp, C. P. (2021) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2021.08.010 · Cited by 8 · see citing works

Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder

Bhatia, S., Pal, S., Kulshrestha, S., Gupta, D., Soni, A., Saxena, R., Bijarnia‐Mahay, S., Verma, I. C., & Puri, R. D. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-024-01569-z · Cited by 8 · see citing works

Holistic precision wellness: Paving the way for next‐generation precision medicine ( ngPM ) with AI , biomedical informatics, and clinical medicine

Mohammed, S. G. A. A., Qoronfleh, M. W., Acar, A., & Al-Dewik, N. I. E. (2025) · FASEB BioAdvances · doi:10.1096/fba.2024-00198 · Cited by 7 · see citing works

Impact of prenatal genomics on clinical genetics practice

Zemet, R., & den Veyver, I. B. V. (2024) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2024.102545 · Cited by 7 · see citing works

Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants

Biswas, P., Villanueva, A., Krajacich, B. J., Moreno, J., Zhao, J., Berry, A. M., Lazaro, D., Lajoie, B. R., Kruglyak, S., & Ayyagari, R. (2024) · PLoS ONE · doi:10.1371/journal.pone.0307266 · Cited by 7 · see citing works

A holistic approach to maximise diagnostic output in trio exome sequencing

Hardenberg, S. V., Wallaschek, H., Du, C., Schmidt, G., & Auber, B. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2023.1183891 · Cited by 7 · see citing works

Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosisPreprint

Savage, L., Adams, S. D., James, K. N., Chowdhury, S., Rajasekaran, S., Prokop, J. W., & Bupp, C. P. (2020) · Molecular Case Studies · doi:10.1101/mcs.a005496 · Cited by 7 · see citing works

Rapid Genome Sequencing Diagnosis in Pediatric Patients with Liver Dysfunction

Bonser, D., Jenkins, S. M., Palmquist, R. N., Guthery, S. L., Bonkowsky, J. L., & Jaramillo, C. (2023) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2023.113534 · Cited by 6 · see citing works

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 · see citing works

Rapid Exome and Genome Sequencing in the Intensive Care Unit

Muriello, M. J., & Basel, D. (2022) · Critical Care Clinics · doi:10.1016/j.ccc.2021.11.001 · Cited by 6 · see citing works

Better and faster is cheaper

Kobayashi, E. S., & Dimmock, D. (2022) · Human Mutation · doi:10.1002/humu.24422 · Cited by 6 · see citing works

Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting

Schildt, A. J., Stevenson, D. A., Yu, L., Anguiano, B., & Suarez, C. J. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63483 · Cited by 6 · see citing works

Clinical Genomics in Critically Ill Infants and Children

Raymond, F. L. (2020) · JAMA · doi:10.1001/jama.2020.8112 · Cited by 6 · see citing works

The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit

Llorian, E. R., Dragojlovic, N., Campbell, T., Friedman, J. M., Osiovich, H. C., Candido, T., Christilaw, J., Dragojlovic, N., du Souich, C., Elliott, A. M., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.04.014 · Cited by 6 · see citing works

Rapid Whole-Genome Sequencing as a First-Line Test Is Likely to Significantly Reduce the Cost of Acute Care in a Private Payer System

Moore, C., Arenchild, M., Waldman, B. M., Rego, S. P., Kingsmore, S. F., Field, J., Barnhart, J., Nee, S., & Nofsinger, R. R. (2025) · The Journal of Applied Laboratory Medicine · doi:10.1093/jalm/jfaf045 · Cited by 5 · see citing works

Risk Variants in the Exomes of Children With Critical Illness

Motelow, J. E., Lippa, N. C., Hostyk, J. A., Feldman, E. S., Nelligan, M., Ren, Z., Alkelai, A., Milner, J. D., Gharavi, A. G., Tang, Y., et al. (2022) · JAMA Network Open · doi:10.1001/jamanetworkopen.2022.39122 · Cited by 5 · see citing works

Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants

Reiley, J., Botas, P., Miller, C. E., Zhao, J., Jenkins, S. M., Best, H. D., Grubb, P. H., Mao, R., Isla, J., & Brunelli, L. (2023) · Children · doi:10.3390/children10060991 · Cited by 5 · see citing works

Current situation and prospect for the diagnosis and treatment of pediatric critical rare diseases in China

Liu, Y., & Qian, S. (2024) · Pediatric Investigation · doi:10.1002/ped4.12419 · Cited by 6 · see citing works

Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study

Zhang, R., Cui, X., Zhang, Y., Ma, H., Gao, J., Zhang, Y., Shu, J., Cai, C., & Liu, Y. (2024) · BMC Pediatrics · doi:10.1186/s12887-024-04820-0 · Cited by 4 · see citing works

Clinical utility of rapid whole genome sequencing in neonatal patients receiving extracorporeal membrane oxygenation (ECMO)

Amin, M. D., Wigby, K. M., Suttner, D. M., Niemi, A., Guidugli, L., & Carroll, J. M. (2024) · Journal of Perinatology · doi:10.1038/s41372-024-02181-1 · Cited by 4 · see citing works

Long-term follow-up of children who received rapid genomic sequencing

Kobayashi, E. S., Tobin, L. E., Arenchild, M., Benson, W., Coufal, N. G., Juarez, E. F., Kingsmore, S. F., Knight, J. R., Lenberg, J. L., Schwarz, A., et al. (2025) · Genetics in Medicine · doi:10.1016/j.gim.2025.101403 · Cited by 4 · see citing works

Neuroinflammation and Precision Medicine in Pediatric Neurocritical Care: Multi-Modal Monitoring of Immunometabolic Dysfunction

Woodward, K., de Jesus, P., & Esser, M. J. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21239155 · Cited by 4 · see citing works

Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiencyPreprint

Owen, M. J., Lenberg, J. L., Feigenbaum, A., Gold, J. J., Chau, K. K., Bezares-Orin, Z., Ding, Y., Chowdhury, S., & Kingsmore, S. F. (2021) · Molecular Case Studies · doi:10.1101/mcs.a006091 · Cited by 4 · see citing works

Comparing the diagnostic and clinical utility of WGS and WES with standard genetic testing (SGT) in children with suspected genetic diseases: A systematic review and meta-analysisPreprint

Tirrell, K. M. B., & O’Neill, H. C. (2023) · medRxiv · doi:10.1101/2023.07.17.23292722 · Cited by 4 · see citing works

Novel, likely pathogenic variant in ATP7A associated with Menkes disease diagnosed with ultrarapid genome sequencing

Backal, A., Velinov, M. T., Garcia, J., & Louis, C. (2024) · BMJ Case Reports · doi:10.1136/bcr-2024-259792 · Cited by 3 · see citing works

Rapid Whole Genome Sequencing for Diagnosis of Single Locus Genetic Diseases in Critically Ill Children

Owen, M. J., Batalov, S., Ellsworth, K. A., Wright, M. S., Breeding, S., Hugh, K., Kingsmore, S. F., & Ding, Y. (2023) · Methods in molecular biology · doi:10.1007/978-1-0716-2950-5_12 · Cited by 3 · see citing works

Palliative Care Outcomes for Critically ill Children After Rapid Whole Genome Sequencing

Perofsky, K., Doshi, A., Boulil, Z., Walters, J. B., Lee, E., Dimmock, D., Kingsmore, S. F., & Coufal, N. G. (2024) · Journal of Intensive Care Medicine · doi:10.1177/08850666241304320 · Cited by 3 · see citing works

Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics

Ward, A. N., Velinder, M., Sera, T. D., Ekawade, A., Jenkins, S. M., Moore, B., Mao, R., Bayrak‐Toydemir, P., & Marth, G. (2022) · Journal of Personalized Medicine · doi:10.3390/jpm12010073 · Cited by 3 · see citing works

A retrospective cohort analysis of the Yale pediatric genomics discovery program

Al‐Ali, S., Jeffries, L., Faustino, E. V. S., Ji, W., Mis, E. K., Konstantino, M., Zerillo, C. A., Jiang, Y., Spencer‐Manzon, M., Bale, A. E., et al. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62918 · Cited by 3 · see citing works

25: A MULTICENTER COHORT ANALYSIS OF RAPID GENOME SEQUENCING IN THE PICU

Rodriguez, K. M., Kobayashi, E. S., VanDongen-Trimmer, H., Salz, L., Foley, J., Whalen, D., Oluchukwu, O., Liu, K. C., Burton, J., Syngal, P., et al. (2022) · Critical Care Medicine · doi:10.1097/01.ccm.0000905976.97417.e4

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 30 · see citing works

Rapid whole-genome sequencing in the pediatric intensive care unit: from etiologic diagnosis to precision management—a narrative review

Yang, X., & Liu, D. (2026) · Translational Pediatrics · doi:10.21037/tp-2026-0625

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 253 · see citing works

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 · see citing works