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Personalized Medicine and the Power of Electronic Health Records

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Application of Next Generation Sequencing in Laboratory Medicine

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Epilepsy in the mTORopathies: opportunities for precision medicine

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Genomic medicine for undiagnosed diseases

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Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association

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Genetic regulatory variation in populations informs transcriptome analysis in rare disease

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The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health

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Sequencing Newborns:A Call for Nuanced Use of Genomic Technologies

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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 84 · see citing works

Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project*

Wu, B., Kang, W., Wang, Y., Zhuang, D., Chen, L., Li, L., Su, Y., Pan, X., Wei, Q., Tang, Z., et al. (2021) · Critical Care Medicine · doi:10.1097/ccm.0000000000005052 · Cited by 80 · see citing works

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 · see citing works

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

Śmigiel, R. S., Biela, M., Szmyd, K., Błoch, M., Szmida, E., Skiba, P., Walczak, A., Gasperowicz, P., Kosińska, J., Rydzanicz, M., et al. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9072220 · Cited by 78 · see citing works

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

Sweeney, N. M., Nahas, S., Chowdhury, S., Batalov, S., Clark, M. M., Caylor, S. A., Cakici, J. A., Nigro, J. J., Ding, Y., Veeraraghavan, N., et al. (2021) · npj Genomic Medicine · doi:10.1038/s41525-021-00192-x · Cited by 74 · see citing works

Genetic testing for kidney disease of unknown etiology

Hays, T., Groopman, E., & Gharavi, A. G. (2020) · Kidney International · doi:10.1016/j.kint.2020.03.031 · Cited by 73 · see citing works

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 · see citing works

GenStore: a high-performance in-storage processing system for genome sequence analysis

Ghiasi, N. M., Park, J., Mustafa, H., Kim, J. S., Olgun, A., Gollwitzer, A., Cali, D. S., Fırtına, C., Mao, H., Alserr, N. A., et al. (2022) · International Conference on Architectural Support for Programming Languages and Operating Systems (ASPLOS) · doi:10.1145/3503222.3507702 · Cited by 73 · see citing works

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

Weisschuh, N., Mazzola, P., Zuleger, T., Schaeferhoff, K., Kuehlewein, L., Kortüm, F. C., Witt, D., Liebmann, A., Falb, R. J., Pohl, L., et al. (2023) · Journal of Medical Genetics · doi:10.1136/jmg-2023-109470 · Cited by 76 · see citing works

Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution

Lalonde, E., Rentas, S., Lin, F., Dulik, M. C., Skraban, C. M., & Spinner, N. B. (2020) · Frontiers in Pediatrics · doi:10.3389/fped.2020.00373 · Cited by 69 · see citing works

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 · see citing works

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Owen, M. J., Lefebvre, S., Hansen, C., Kunard, C. M., Dimmock, D., Smith, L. D., Scharer, G. H., Mardach, R., Willis, M. J. H., Feigenbaum, A., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-31446-6 · Cited by 71 · see citing works

Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China

Wang, H., Lu, Y., Dong, X., Lü, G., Cheng, G., Qian, Y., Ni, Q., Zhang, P., Yang, L., Wu, B., et al. (2020) · Human Genetics · doi:10.1007/s00439-019-02103-8 · Cited by 70 · see citing works

Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions

Lavelle, T. A., Feng, X., Keisler, M., Cohen, J. T., Neumann, P. J., Prichard, D., Schroeder, B. E., Salyakina, D., Espinal, P. S., Weidner, S. B., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.03.005 · Cited by 69 · see citing works

Children’s rare disease cohorts: an integrative research and clinical genomics initiative

Rockowitz, S., LeCompte, N., Carmack, M. M., Quitadamo, A., Wang, L., Park, M., Knight, D., Sexton, E. L., Smith, L. A., Sheidley, B. R., et al. (2020) · npj Genomic Medicine · doi:10.1038/s41525-020-0137-0 · Cited by 68 · see citing works

Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders

Nurchis, M. C., Radio, F. C., Salmasi, L., Alizadeh, A. H., Raspolini, G. M., Altamura, G., Tartaglia, M., Dallapiccola, B., Pizzo, E., Gianino, M. M., et al. (2024) · JAMA Network Open · doi:10.1001/jamanetworkopen.2023.53514 · Cited by 67 · see citing works

Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment

Nurchis, M. C., Altamura, G., Riccardi, M. T., Radio, F. C., Chillemi, G., Bertini, E. S., Garlasco, J., Tartaglia, M., Dallapiccola, B., & Damiani, G. (2023) · Archives of Public Health · doi:10.1186/s13690-023-01112-4 · Cited by 65 · see citing works

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates

Huang, X., Wu, D., Zhu, L., Wang, W., Yang, R., Yang, J., He, Q., Zhu, B., You, Y., Xiao, R., et al. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02231-x · Cited by 64 · see citing works

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

(2020) · Europe PMC (PubMed Central) · Cited by 60 · see citing works

From molecules to genomic variations: Accelerating genome analysis via intelligent algorithms and architectures

Alser, M., Lindegger, J., Fırtına, C., Alserr, N. A., Mao, H., Singh, G., Gómez-Luna, J., & Mutlu, O. (2022) · Computational and Structural Biotechnology Journal · doi:10.1016/j.csbj.2022.08.019 · Cited by 59 · see citing works

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses

James, K. N., Clark, M. M., Camp, B., Kint, C. I., Schols, P., Batalov, S., Briggs, B. J., Veeraraghavan, N., Chowdhury, S., & Kingsmore, S. F. (2020) · npj Genomic Medicine · doi:10.1038/s41525-020-00140-1 · Cited by 61 · see citing works

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing

Maron, J. L., Kingsmore, S. F., Wigby, K. M., Chowdhury, S., Dimmock, D., Poindexter, B. B., Suhrie, K. R., Vockley, J. E., Diacovo, T. G., Gelb, B. D., et al. (2021) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/jamapediatrics.2020.5906 · Cited by 60 · see citing works

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 · see citing works

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

Lowther, C., Valkanas, E., Giordano, J. L., Wang, H. Z., Currall, B., O’Keefe, K., Pierce‐Hoffman, E., Kurtas, N. E., Whelan, C. W., Hao, S. P., et al. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.07.010 · Cited by 68 · see citing works

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 · see citing works

Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants

Wang, H., Qian, Y., Lu, Y., Qin, Q., Lü, G., Cheng, G., Zhang, P., Yang, L., Wu, B., & Zhou, W. (2020) · npj Genomic Medicine · doi:10.1038/s41525-020-0129-0 · Cited by 57 · see citing works

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

Dhombres, F., Morgan, P., Chaudhari, B. P., Filges, I., Sparks, T. N., Lapunzina, P. D., Roscioli, T., Agarwal, U., Aggarwal, S., Bénéteau, C., et al. (2022) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31989 · Cited by 59 · see citing works

Exome/Genome Sequencing in Undiagnosed Syndromes

Sullivan, J. A., Schoch, K., Spillmann, R. C., & Shashi, V. (2023) · Annual Review of Medicine · doi:10.1146/annurev-med-042921-110721 · Cited by 58 · see citing works

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 · see citing works

Informed Consent in the Genomics EraPreprint

Rego, S. M., Grove, M. E., Cho, M. K., & Ormond, K. E. (2019) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a036582 · Cited by 55 · see citing works

Approaches to long-read sequencing in a clinical setting to improve diagnostic rate

Kobayashi, E. S., Batalov, S., Wenger, A. M., Lambert, C. C., Dhillon, H., Hall, R. J., Baybayan, P. A., Ding, Y., Rego, S. P., Wigby, K. M., et al. (2022) · Scientific Reports · doi:10.1038/s41598-022-20113-x · Cited by 51 · see citing works

Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases

Liu, H., Zhou, L., Zheng, M., Huang, J., Wan, S., Zhu, A., Zhang, M., Dong, A., Hou, L., Li, J., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-55832-1 · Cited by 51 · see citing works

A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases

Pandey, R., Brennan, N. F., Trachana, K., Katsandres, S. C., Bodamer, O. A., Belmont, J. W., Veenstra, D. L., & Peng, S. (2025) · Genetics in Medicine · doi:10.1016/j.gim.2025.101398 · Cited by 52 · see citing works

Early Lessons from the Implementation of Genomic Medicine Programs

Williams, M. S. (2019) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083118-014924 · Cited by 50 · see citing works

Genetic Etiology of Left‐Sided Obstructive Heart Lesions: A Story in Development

Parker, L. E., & Landstrom, A. P. (2021) · Journal of the American Heart Association · doi:10.1161/jaha.120.019006 · Cited by 50 · see citing works

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 · see citing works

Incremental yield of whole‐genome sequencing over chromosomal microarray analysis and exome sequencing for congenital anomalies in prenatal period and infancy: systematic review and meta‐analysis

Shreeve, N., Sproule, C., Choy, K. W., Dong, Z., Gajewska‐Knapik, K., Kilby, M. D., & Mone, F. (2023) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.27491 · Cited by 55 · see citing works

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 · see citing works

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 · see citing works

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

Gauquelin, L., Cayami, F. K., Sztriha, L., Yoon, G., Tran, L. T., Guerrero, K., Hocke, F., van Spaendonk, R. M. L., Fung, E. L. W., D’Arrigo, S., et al. (2019) · Neurology Genetics · doi:10.1212/nxg.0000000000000369 · Cited by 48 · see citing works

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 · see citing works

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 46 · see citing works

Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing

Owen, M. J., Wright, M. S., Batalov, S., Kwon, Y., Ding, Y., Chau, K. K., Chowdhury, S., Sweeney, N. M., Kiernan, E. A., Richardson, A. C., et al. (2023) · JAMA Network Open · doi:10.1001/jamanetworkopen.2022.54069 · Cited by 45 · see citing works

Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)

Raca, G., Astbury, C., Behlmann, A., Castro, M. J. D., Hickey, S. E., Karaca, E., Lowther, C., Riggs, E. R., Seifert, B. A., Thorland, E. C., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.09.017 · Cited by 47 · see citing works

Parental perceptions of prenatal whole exome sequencing (PPPWES) study

Wou, K., Weitz, T., McCormack, C. A., Wynn, J., Spiegel, E. S., Giordano, J. L., Wapner, R. J., & Chung, W. K. (2018) · Prenatal Diagnosis · doi:10.1002/pd.5332 · Cited by 45 · see citing works

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

Morton, S. U., Christodoulou, J., Costain, G., Francesco Muntoni, A., 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 45 · see citing works

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 · see citing works

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 · see citing works

Precision medicine in rare diseases: What is next?

Tesi, B., Boileau, C., Boycott, K. M., Canaud, G., Caulfield, M. J., Choukair, D., Hill, S. L., Spielmann, M., Wedell, A., Wirta, V., et al. (2023) · Journal of Internal Medicine · doi:10.1111/joim.13655 · Cited by 45 · see citing works

Artificial intelligence in healthcare: a mastery

Mukherjee, J., Sharma, R., Dutta, P., & Bhunia, B. (2023) · Biotechnology and Genetic Engineering Reviews · doi:10.1080/02648725.2023.2196476 · Cited by 43 · see citing works

Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene

Marx, S. J., & Sinaii, N. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz233 · Cited by 42 · see citing works

An appraisal of the Wilson & Jungner criteria in the context of genomic-based newborn screening for inborn errors of immunity

King, J. R., Notarangelo, L. D., & Hammarström, L. L. G. (2021) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2020.12.633 · Cited by 39 · see citing works

Use of Real-World Evidence in US Payer Coverage Decision-Making for Next-Generation Sequencing–Based Tests: Challenges, Opportunities, and Potential Solutions

Deverka, P. A., Douglas, M. P., & Phillips, K. A. (2020) · Value in Health · doi:10.1016/j.jval.2020.02.001 · Cited by 39 · see citing works

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants

Brunelli, L., Jenkins, S. M., Gudgeon, J. M., Bleyl, S. B., Miller, C. E., Tvrdik, T., Dames, S. A., Ostrander, B., Daboub, J. A. F., Zielinski, B. A., et al. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.796 · Cited by 39 · see citing works

Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions

Smith, H. S., Swint, J. M., Lalani, S. R., Otto, M. C. D. O., Yamal, J., Russell, H. V., & Lee, B. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0798-1 · Cited by 38 · see citing works

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 · see citing works

Rapid Whole Genome Sequencing Decreases Morbidity and Healthcare Cost of Hospitalized InfantsPreprint

Farnaes, L., Hildreth, A., Sweeney, N. M., Clark, M. M., Chowdhury, S., Nahas, S., Cakici, J. A., Benson, W., Kaplan, R. H., Kronick, R. G., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/253534 · Cited by 3 · see citing works

Abstracts

(2019) · Journal of Molecular Diagnostics · doi:10.1016/s1525-1578(19)30391-5 · Cited by 1 · see citing works

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

Sweeney, N. M., Nahas, S., Chowdhury, S., Batalov, S., Clark, M. M., Caylor, S. A., Cakici, J. A., Nigro, J. J., Ding, Y., Veeraraghavan, N., et al. (2021) · npj Genomic Medicine · doi:10.1038/s41525-021-00192-x · Cited by 74 · 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

Rapid Genome Sequencing Compared to a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic EvaluationPreprint

Lavelle, T. A., Maron, J. L., Kingsmore, S. F., Lin, C.-H., Zhu, Y., Sweigart, B., Reed, D., Gelb, B. D., Vockley, J. E., & Davis, J. M. (2024) · medRxiv · doi:10.1101/2024.10.18.24315740