Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) · doi:10.1093/bioinformatics/btv710 · Cited by 2,234

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

Abyzov, A., Urban, A. E., Snyder, M., & Gerstein, M. (2011) · Genome Research · doi:10.1101/gr.114876.110 · Cited by 1,658

Features of Alagille Syndrome in 92 Patients: Frequency and Relation to Prognosis

Emerick, K. M., Rand, E. B., Goldmuntz, E., Krantz, I. D., Spinner, N. B., & Piccoli, D. A. (1999) · Hepatology · doi:10.1002/hep.510290331 · Cited by 657

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Lionel, A. C., Costain, G., Monfared, N., Walker, S., Reuter, M. S., Hosseini, S. M., Thiruvahindrapuram, B., Merico, D., Jobling, R., Nalpathamkalam, T., et al. (2018) · Genetics in Medicine · doi:10.1038/gim.2017.119 · Cited by 557

Mortality in the United States, 2024

Xu, J., Murphy, S. L., Kochanek, K. D., & Arias, E. (2026) · doi:10.15620/cdc/174641 · Cited by 461

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

ANALYSIS OF THE FUTURE: THE DELPHI METHOD

Helmer, O. (1967) · Defense Technical Information Center (DTIC) · Cited by 381

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Stavropoulos, D. J., Merico, D., Jobling, R. K., Bowdin, S. C., Monfared, N., Thiruvahindrapuram, B., Nalpathamkalam, T., Pellecchia, G., Yuen, R. K. C., Szego, M. J., et al. (2016) · npj Genomic Medicine · doi:10.1038/npjgenmed.2015.12 · Cited by 366

Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia

Menni, F., de Lonlay, P., Sevin, C., Touati, G., Peigné, C., Barbier, V., Nihoul-Fékété, C., Saudubray, J.-M., & Robert, J.-J. (2001) · PEDIATRICS · doi:10.1542/peds.107.3.476 · Cited by 347

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

Integrating rapid exome sequencing into NICU clinical care after a pilot research study

D’Gama, A. M., del Rosario, M. C., Bresnahan, M., Yu, T. W., Wojcik, M. H., & Agrawal, P. B. (2022) · npj Genomic Medicine · doi:10.1038/s41525-022-00326-9 · Cited by 39

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study

Sun, Y., Peng, J., Liang, D., Ye, X., Xu, N., Chen, L., Yan, D., Zhang, H., Xiao, B., Qiu, W., et al. (2022) · Human Mutation · doi:10.1002/humu.24347 · Cited by 37

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

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

Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact

Boonsimma, P., Ittiwut, C., Kamolvisit, W., Ittiwut, R., Chetruengchai, W., Phokaew, C., Srichonthong, C., Poonmaksatit, S., Desudchit, T., Suphapeetiporn, K., et al. (2022) · European Journal of Human Genetics · doi:10.1038/s41431-022-01202-x · Cited by 35

Ethics of artificial intelligence in prenatal and pediatric genomic medicine

Coghlan, S., Gyngell, C., & Vears, D. F. (2023) · Journal of Community Genetics · doi:10.1007/s12687-023-00678-4 · Cited by 39

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead

Veldman, A., Kiewiet, M. B. G., Heiner-Fokkema, M. R., Nelen, M. R., Sinke, R. J., Sikkema‐Raddatz, B., Voorhoeve, E., Westra, D., Dollé, M. E. T., Schielen, P. C. J. I., et al. (2022) · International Journal of Neonatal Screening · doi:10.3390/ijns8010017 · Cited by 38

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 34

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

Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease

Hays, T., Hernan, R., Disco, M., Griffin, E. L., Goldshtrom, N., Vargas, D., Krishnamurthy, G., Bomback, M. J., Rehman, A. U., Thomas‐Wilson, A., et al. (2023) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.122.004050 · Cited by 32

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

Odgis, J. A., Gallagher, K. M., Suckiel, S. A., Bonini, K. E., Ramos, M. A., Kelly, N., Bertier, G., Blackburn, C., Brown, K. M., Fielding, L., et al. (2021) · Trials · doi:10.1186/s13063-020-04953-4 · Cited by 33

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

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

Salvatore, M., Polizzi, A., de Stefano, M. C., Floridia, G., Baldovino, S., Roccatello, D., Sciascia, S., Menegatti, E., Remuzzi, G., Daina, E., et al. (2020) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-020-00883-8 · Cited by 30

Rare versus common diseases: a false dichotomy in precision medicine

Chung, B. H., Chau, J. F. T., & Wong, G. K. (2021) · npj Genomic Medicine · doi:10.1038/s41525-021-00176-x · 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

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan’s Project Baby Deer

Bupp, C. P., Ames, E. G., Arenchild, M., Caylor, S. A., Dimmock, D., Fakhoury, J., Karna, P., Lehman, A., Meghea, C. I., Misra, V. K., et al. (2023) · Children · doi:10.3390/children10010106 · Cited by 30

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

Ding, Y., Owen, M. J., Le, J. M., Batalov, S., Chau, K. K., Kwon, Y. H., Kraan, L. V. D., Bezares-Orin, Z., Zhu, Z., Veeraraghavan, N., et al. (2023) · npj Genomic Medicine · doi:10.1038/s41525-023-00349-w · 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

Ethical questions concerning newborn genetic screening

Esquerda, M., Palau, F., Lorenzo, D., Lasaosa, F. J. C., Bofarull, M., Cusí, V., & de Bioètica, G. I. (2020) · Clinical Genetics · doi:10.1111/cge.13828 · Cited by 29

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

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

Marchant, R. G., Bryen, S. J., Bahlo, M., Cairns, A. G., Chao, K. R., Corbett, A. J., Davis, M. R., Ganesh, V. S., Ghaoui, R., Jones, K., et al. (2024) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.52041 · Cited by 30

Operational models and criteria for incorporating microbial whole genome sequencing in hospital microbiology – A systematic literature review

Mintzer, V., Moran‐Gilad, J., & Simon‐Tuval, T. (2019) · Clinical Microbiology and Infection · doi:10.1016/j.cmi.2019.04.019 · Cited by 28

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

Keizer, R. A. C. M. O., Marouane, A., Kerstjens‐Frederikse, W. S., Deden, A. C., Lichtenbelt, K. D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., de Vries, L. S., et al. (2023) · European Journal of Pediatrics · doi:10.1007/s00431-023-04909-1 · Cited by 30

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

Rare germline structural variants increase risk for pediatric solid tumors

Gillani, R., Collins, R. L., Crowdis, J., Garza, A., Jones, J. K., Walker, M., Sanchis-Juan, A., Whelan, C., Pierce‐Hoffman, E., Talkowski, M. E., et al. (2025) · Science · doi:10.1126/science.adq0071 · Cited by 28

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

Next-Generation Sequencing Technologies and Neurogenetic Diseases

Sun, H., Shen, X.-R., Fang, Z.-B., Jiang, Z., Wei, X., Wang, Z., & Yu, X. (2021) · Life · doi:10.3390/life11040361 · Cited by 29

CELSR1 variants are associated with partial epilepsy of childhood

Chen, Z., Luo, S., Liu, Z., Deng, Y., He, S., Liu, X., Yi, Y., Wang, J., Gao, L., Li, B.-M., et al. (2022) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32916 · Cited by 26

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 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

‘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

3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

Zalusky, M. P., Gustafson, J. A., Bohaczuk, S. C., Mallory, B. J., Reed, P., Wenger, T. L., Beckman, E., Chang, I. J., Paschal, C. R., Buchan, J. G., et al. (2024) · Genetics in Medicine Open · doi:10.1016/j.gimo.2024.101833 · Cited by 26

The development of neonatal neurointensive care

Austin, T. (2019) · Pediatric Research · doi:10.1038/s41390-019-0729-5 · Cited by 25

Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence

Nurchis, M. C., Riccardi, M. T., Radio, F. C., Chillemi, G., Bertini, E., Tartaglia, M., Cicchetti, A., Dallapiccola, B., & Damiani, G. (2022) · Health Policy · doi:10.1016/j.healthpol.2022.03.001 · Cited by 25

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

Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours

Lumaka, A. Z., Fasquelle, C., Debray, F., Alkan, S., Jacquinet, A., Harvengt, J., Boemer, F., Mulder, A., Vaessen, S., Viellevoye, R., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24044003 · Cited by 25

Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations

King, J. R., Grill, K., & Hammarström, L. L. G. (2023) · International Journal of Neonatal Screening · doi:10.3390/ijns9020022 · Cited by 24

Clinical utility of genomic sequencing

Neu, M. B., Bowling, K. M., & Cooper, G. M. (2019) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000815 · Cited by 24

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

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

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 32

Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test

Guo, F., Liu, R., Pan, Y., Collins, C. D., Bean, L. J., Ma, Z., Mathur, A., Silva, C. D., Nallamilli, B. R. R., Guruju, N., et al. (2023) · Genetics in Medicine · doi:10.1016/j.gim.2023.100995 · Cited by 23

GREGoR: accelerating genomics for rare diseases

Dawood, M., Heavner, B., Wheeler, M. M., Ungar, R. A., LoTempio, J. E., Wiel, L., Berger, S., Bernstein, J. A., Chong, J. X., Délot, E. C., et al. (2025) · Nature · doi:10.1038/s41586-025-09613-8 · Cited by 27

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

Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencingPreprint

Kobayashi, E. S., Farnaes, L., Batalov, S. V., Bainbridge, M., Laubach, S. S., Worthen, H. M., 時田, 真., Kingsmore, S. F., & Bradley, J. S. (2018) · Molecular Case Studies · doi:10.1101/mcs.a003244 · Cited by 22

Cost or price of sequencing? Implications for economic evaluations in genomic medicine

Grosse, S. D., & Gudgeon, J. M. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01223-9 · Cited by 21

Genetic testing strategies in the newborn

Carroll, J. M., Wigby, K. M., & Murray, S. (2020) · Journal of Perinatology · doi:10.1038/s41372-020-0697-y · Cited by 21

The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges

Ashenden, A. J., Chowdhury, A., Anastasi, L. T., Lam, K., Rozek, T., Ranieri, E., Siu, C. W.-K., King, J. R., Mas, E., & Kassahn, K. S. (2024) · International Journal of Neonatal Screening · doi:10.3390/ijns10030042 · Cited by 20

Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects

Durbin, M. D., Fairman, K., Helvaty, L. R., Huang, M., Li, M., Abreu, D., Geddes, G. C., Helm, B. M., Landis, B. J., McEntire, A., et al. (2023) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2023.113495 · Cited by 20

Exome sequencing in the assessment of congenital malformations in the fetus and neonate

Mone, F., Quinlan-Jones, E., Ewer, A. K., & Kilby, M. D. (2019) · Archives of Disease in Childhood Fetal & Neonatal · doi:10.1136/archdischild-2018-316352 · Cited by 20

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

Genetic Testing for Neonatal Respiratory Disease

Nogee, L. M., & Ryan, R. M. (2021) · Children · doi:10.3390/children8030216 · 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

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

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

Sabir, A. H., Morley, E., Sheikh, J., Calder, A. D., Beleza‐Meireles, A., Cheung, M., Cocca, A., Jansson, M., Lillis, S., Patel, Y., et al. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-00993-0 · Cited by 21

Comparison of Mendeliome exome capture kits for use in clinical diagnostics

Pengelly, R. J., Ward, D., Hunt, D., Mattocks, C., & Ennis, S. (2020) · Scientific Reports · doi:10.1038/s41598-020-60215-y · Cited by 18

Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report

Chandrasekar, I., Tourney, A., Loo, K., Carmichael, J., James, K. N., Ellsworth, K. A., Dimmock, D., & Joseph, M. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62185 · Cited by 18

Compendium of causative genes and their encoded proteins for common monogenic disorders

Apgar, T. L., & Sanders, C. R. (2021) · Protein Science · doi:10.1002/pro.4183 · Cited by 21

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

The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care

Parker, L. E., & Landstrom, A. P. (2021) · Progress in Pediatric Cardiology · doi:10.1016/j.ppedcard.2021.101413 · 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

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease

Slavotinek, A. M., Thompson, M. L., Martin, L. J., & Gelb, B. D. (2024) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2024.100286 · 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

Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis

Weaver, K. N., Chen, J., Shikany, A. R., White, P. S., Prada, C. E., Gelb, B. D., & Cnota, J. F. (2022) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.121.003635 · Cited by 18

Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management

Hanna, C., Iliuta, I.-A., Besse, W., Mekahli, D., & Chebib, F. T. (2023) · Seminars in Nephrology · doi:10.1016/j.semnephrol.2023.151434 · Cited by 16

Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action

Jobanputra, V., Schroeder, B. E., Rehm, H. L., Shen, W., Spiteri, E., Nakouzi, G. A., Taylor, S. L., Marshall, C. R., Meng, L., Kingsmore, S. F., et al. (2024) · npj Genomic Medicine · doi:10.1038/s41525-024-00410-2 · Cited by 16

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 18

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

Exploring the Use of Genomic and Routinely Collected Data: Narrative Literature Review and Interview Study

Daniels, H., Jones, K. H., Heys, S., & Ford, D. V. (2021) · Journal of Medical Internet Research · doi:10.2196/15739 · Cited by 17

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

Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia

Black, H. A., de Procé, S. M., Campos, J. L., Meynert, A. M., Halachev, M. R., Marsh, J. A., Hirst, R. A., O’Callaghan, C., Shoemark, A., Toddie-Moore, D., et al. (2024) · Pediatric Pulmonology · doi:10.1002/ppul.27200 · 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

The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy

Vaisitti, T., Peritore, D., Magistroni, P., Ricci, A., Lombardini, L., Gringeri, E., Catalano, S., Spada, M., Sciveres, M., Giorgio, A. D., et al. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-02013-x · Cited by 15

Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization

Sera, T. D., Velinder, M., Ward, A. N., Qiao, Y., Georges, S. J., Miller, C., Pitman, A., Richards, W., Ekawade, A., Viskochil, D. H., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-99752-5 · Cited by 15

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1

Bourque, D. K., Fonseca, I. C., Staines, A., Teitelbaum, R., Axford, M. M., Jobling, R., Chiasson, D. A., & Chitayat, D. A. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61162 · Cited by 15

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

Newborn screening for severe combined immunodeficiency and inborn errors of immunity

Lev, A., Somech, R., & Somekh, I. (2023) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000001291 · Cited by 14

Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease

de Castro, M. J., González‐Vioque, E., Gouveia, S., Salguero, E., Gracia, S. R., López-Suárez, O., Pérez‐Muñuzuri, A., & Couce, M. L. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9082362 · Cited by 15

Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions

Yusuf, A., Peltekova, I. T., Savion‐Lemieux, T., Frei, J., Joober, R., Howe, J., Scherer, S. W., & Elsabbagh, M. (2020) · Journal of Genetic Counseling · doi:10.1002/jgc4.1323 · 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

Genome sequencing among children with medical complexity: What constitutes value from parents’ perspective?

Lee, W., Luca, S., Costain, G., Snell, M., Marano, M. M., Curtis, M., Dunsmore, K., Veenma, D. C. M., Walker, S., Cohn, R. D., et al. (2021) · Journal of Genetic Counseling · doi:10.1002/jgc4.1522 · Cited by 14

The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder

Barbour, K. K., Bainbridge, M. N., Wigby, K. M., Besterman, A. D., Chuang, N. A., Tobin, L. E., Campo, M. D., Lenberg, J. L., Bird, L. M., & Friedman, J. (2024) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2024.09.015 · Cited by 13

Omics and rare diseases: challenges, applications, and future perspectives

Braconi, D., Nadwa, H., Bernardini, G., & Santucci, A. (2025) · Expert Review of Proteomics · doi:10.1080/14789450.2025.2468300 · Cited by 15

Impacts of genomics on the health and social costs of intellectual disability

Doble, B., SCHOFIELD, D. J., Evans, C., Groza, T., Mattick, J. S., Field, M., & Roscioli, T. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106445 · Cited by 13

Systematic evaluation of genome sequencing for the assessment of fetal structural anomaliesPreprint

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. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.08.12.248526 · Cited by 13

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

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 13

Next-generation sequencing-based newborn screening initiatives in Europe: an overview

Bros‐Facer, V., Taylor, S. L., & Patch, C. (2023) · Rare Disease and Orphan Drugs Journal · doi:10.20517/rdodj.2023.26 · Cited by 13

Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals

Yamaguchi‐Kabata, Y., Yasuda, J., Uruno, A., Shimokawa, K., Koshiba, S., Suzuki, Y., Fuse, N., Kawame, H., Tadaka, S., Nagasaki, M., et al. (2019) · Human Genetics · doi:10.1007/s00439-019-01998-7 · Cited by 12

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

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

Neonatal diabetes mellitus due to a novel variant in the INS genePreprint

Laurenzano, S. E., McFall, C., Nguyen, L., Savla, D., Coufal, N. G., Wright, M. S., Tokita, M., Dimmock, D., Kingsmore, S. F., & Newfield, R. S. (2019) · Molecular Case Studies · doi:10.1101/mcs.a004085 · Cited by 12

What is the role of next generation sequencing in status epilepticus?

Guerrini, R., Parrini, E., Marini, C., & Mei, D. (2019) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2019.06.017 · Cited by 11

From diagnostic testing to precision medicine: the evolving role of genomics in cardiac channelopathies and cardiomyopathies in children

Bidzimou, M.-T. K., & Landstrom, A. P. (2022) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2022.101978 · Cited by 11

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

Abstracts

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

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

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

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