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

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

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

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

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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

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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

Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals

Naslavsky, M. S., Scliar, M. O., Nunes, K., Wang, J. Y. T., Yamamoto, G. L., Guio, H., Tarazona‐Santos, E., Duarte, Y. A. O., Passos‐Bueno, M. R., Meyer, D., et al. (2021) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31931 · 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

Simple Test, Complex System: Multifaceted Views of Newborn Screening Science, Technology, and Policy

Chan, K., & Petros, M. (2019) · Global Pediatric Health · doi:10.1177/2333794x19894812 · Cited by 11

Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation

Ng, A., Galosi, S., Salz, L., Wong, T. C., Schwager, C. R., Amudhavalli, S. M., Gelineau‐Morel, R., Chowdhury, S., & Friedman, J. (2020) · BMC Neurology · doi:10.1186/s12883-020-01798-x · Cited by 11

Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease

Vockley, J., Defay, T., Goldenberg, A. J., & Gaviglio, A. (2022) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32016 · Cited by 12

Genomic testing in pediatric epilepsyPreprint

Thodeson, D. M., & Park, J. Y. (2019) · Molecular Case Studies · doi:10.1101/mcs.a004135 · Cited by 11

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 12

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

Metagenomic next-generation sequencing, instead of procalcitonin, could guide antibiotic usage in patients with febrile acute necrotizing pancreatitis: a multicenter, prospective cohort study

Lin, C., Li, J., Liu, B., Hong, X., Luo, T., Ye, J., Yu, Y., Peng, X., Gou, S., Huayong, T., et al. (2024) · International Journal of Surgery · doi:10.1097/js9.0000000000001162 · Cited by 10

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

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

Can artificial intelligence save medical genetics?

Solomon, B. D. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62538 · Cited by 10

Case report: ‘AARS2 leukodystrophy’

Axelsen, T. M., Vammen, T. L., Bak, M., Pourhadi, N., Stenør, C., & Grønborg, S. W. (2021) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2021.100782 · Cited by 10

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia

Morton, S. U., Costain, G., French, C. E., Wakeling, E. L., Szuto, A., Christodoulou, J., Cohn, R. D., Darras, B. T., Wojcik, M. H., D’Gama, A. M., et al. (2024) · Neurology · doi:10.1212/wnl.0000000000210106 · Cited by 11

Molecular analysis of dilated and left ventricular noncompaction cardiomyopathies in Egyptian children

Mehaney, D. A., Haghighi, A., Embaby, A. K., Zeyada, R. A., Darwish, R. K., Elfeel, N. S., Abouelhoda, M., El-Saiedi, S. A., Gohar, N. A., & Seliem, Z. S. (2021) · Cardiology in the Young · doi:10.1017/s1047951121002055 · Cited by 9

Sequencing of Nucleic Acids: from the First Human Genome to Next Generation Sequencing in COVID-19 Pandemic

Furlani, B., Kouter, K., Rozman, D., & Paska, A. V. (2021) · Acta chimica slovenica · doi:10.17344/acsi.2021.6691 · Cited by 9

Current Practices for Genetic Testing in Neonatal Extracorporeal Membrane Oxygenation: Findings from a National survey

Wild, K. T., Miquel‐Verges, F., Rintoul, N. E., DiGeronimo, R., Keene, S. D., Hamrick, S. E. G., Mahmood, B., Rao, R., & Carr, N. (2022) · Perfusion · doi:10.1177/02676591221130178 · Cited by 9

DiscoVari : A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes

Kurzlechner, L. M., Kishnani, S., Chowdhury, S., Atkins, S., Moya‐Mendez, M. E., Parker, L. E., Rosamilia, M. B., Tadros, H. J. J., Pace, L., Patel, V., et al. (2023) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.122.003911 · Cited by 8

Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders

Nurchis, M. C., Radio, F. C., Salmasi, L., Alizadeh, A. H., Raspolini, G. M., Altamura, G., Tartaglia, M., Dallapiccola, B., & Damiani, G. (2023) · The European Journal of Health Economics · doi:10.1007/s10198-023-01644-0 · Cited by 9

A pediatric perspective on genomics and prevention in the twenty-first century

Chaudhari, B. P., Manickam, K., & McBride, K. L. (2019) · Pediatric Research · doi:10.1038/s41390-019-0597-z · Cited by 8

Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation of WT1-associated nephrotic syndrome type 4Preprint

Kobayashi, E. S., Wong, T. C., Ellsworth, K. A., Ingulli, E. G., & Kingsmore, S. F. (2020) · Molecular Case Studies · doi:10.1101/mcs.a005470 · Cited by 9

Ethical and Legal Issues Surrounding Genetic Testing in the NICU

Callahan, K. P., Clayton, E. W., Lemke, A. A., Chaudhari, B. P., Wenger, T. L., Lyle, A. N. J., & Brothers, K. B. (2024) · NeoReviews · doi:10.1542/neo.25-3-e127 · Cited by 9

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

Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey

Yılmaz, B. G., Doğan, Ö. A., Özdemir, Ö., Yüksel, B., Ng, Ö. H., Bilgüvar, K., Ay, B., Ozkose-Iyigel, G. S., Aydin, E., Yigit, A., et al. (2024) · Frontiers in Pediatrics · doi:10.3389/fped.2024.1412880 · Cited by 8

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing

Ball, M., Bouffler, S. E., Barnett, C. B., Freckmann, M., Hunter, M. F., Kamien, B., Kassahn, K. S., Lunke, S., Patel, C., Pinner, J. R., et al. (2024) · Genetics in Medicine · doi:10.1016/j.gim.2024.101293 · Cited by 8

First‐Tier Versus Last‐Tier Trio Whole‐Genome Sequencing for the Diagnosis of Pediatric‐Onset Rare Diseases

Lucca, C., Rosina, E., Pezzani, L., Piazzolla, D., Spaccini, L., Scatigno, A., Gasperini, S., Pezzoli, L., Cereda, A., Milani, D., et al. (2025) · Clinical Genetics · doi:10.1111/cge.14760 · Cited by 8

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 9

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

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

Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns

Sen, K., Harmon, J., & Gropman, A. L. (2021) · International Journal of Neonatal Screening · doi:10.3390/ijns7040076 · Cited by 8

A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders

Johnson, K., Saylor, K. W., Guynn, I., Hicklin, K., Berg, J. S., & Lich, K. H. (2021) · Genetics in Medicine · doi:10.1016/j.gim.2021.10.008 · Cited by 8

Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States

Fishler, K. P., Euteneuer, J. C., & Brunelli, L. (2022) · International Journal of Neonatal Screening · doi:10.3390/ijns8010022 · Cited by 9

Test development, optimization and validation of a WGS pipeline for genetic disorders

Yang, Z., Yang, X., Sun, Y., Wang, Y., Song, L., Qiao, Z., Fang, Z., Wang, Z., Liu, L., Chen, Y., et al. (2023) · BMC Medical Genomics · doi:10.1186/s12920-023-01495-x · Cited by 8

The Enduring Importance of Family Health History in the Era of Genomic Medicine and Risk Assessment

Haga, S. B., & Orlando, L. A. (2020) · Personalized Medicine · doi:10.2217/pme-2019-0091 · Cited by 8

Diagnosis of cytomegalovirus infection from clinical whole genome sequencing

Ramchandar, N., Ding, Y., Farnaes, L., Dimmock, D., Hobbs, C. A., Kingsmore, S. F., & Bainbridge, M. (2020) · Scientific Reports · doi:10.1038/s41598-020-67656-5 · Cited by 8

Physicians’ use and perceptions of genetic testing for rare diseases in China: a nationwide cross-sectional study

Liu, W., Liu, P., Guo, D., Jin, Y., Zhao, K., Zheng, J., Li, K., Li, L., & Zhang, S. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02847-7 · Cited by 7

Rapid Genome Sequencing Shows Diagnostic Utility in Infants With Congenital Heart Defects

Durbin, M. D., Helvaty, L. R., Posorske, A., Zhang, S., Huang, M., Li, M., Abreu, D., Fairman, K., Geddes, G. C., Helm, B. M., et al. (2026) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.125.005367 · Cited by 9

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

D-Bifunctional Protein Deficiency Diagnosis—A Challenge in Low Resource Settings: Case Report and Review of the Literature

Ognean, M. L., Mutică, I. B., Vişa, G., Șofariu, C. R., Matei, C., Neamtu, B. M., Cucerea, M., Galiș, R., Cocișiu, G. A., & Matacuta-Bogdan, I.-O. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25094924 · Cited by 7

Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada

Weymann, D., Buckell, J., Fahr, P., Loewen, R., Ehman, M., Pollard, S., Friedman, J. M., Stöckler‐Ipsiroglu, S., Elliott, A. M., Wordsworth, S., et al. (2024) · JAMA Network Open · doi:10.1001/jamanetworkopen.2024.20842 · Cited by 7

Taming large-scale genomic analyses via sparsified genomics

Alser, M., Eudine, J., & Mutlu, O. (2025) · Nature Communications · doi:10.1038/s41467-024-55762-1 · Cited by 7

Benefits and barriers to broad implementation of genomic sequencing in the NICU

Goldin, M. R., Ruderfer, D. M., Bick, A. G., Roden, D. M., Schuler, B. A., & Robinson, J. R. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.04.007 · Cited by 9

Please give me a copy of my child’s raw genomic data

Chad, L., & Szego, M. J. (2021) · npj Genomic Medicine · doi:10.1038/s41525-021-00175-y · Cited by 7

The Efficacy of Whole Genome Sequencing and RNA-Seq in the Diagnosis of Whole Exome Sequencing Negative Patients with Complex Neurological Phenotypes

Blake, B., Brady, L., Rouse, N. A., Nagy, P. L., & Tarnopolsky, M. A. (2021) · Journal of Pediatric Genetics · doi:10.1055/s-0041-1736610 · Cited by 7

Esophageal Atresia With or Without Tracheoesophageal Fistula: Comorbidities, Genetic Evaluations, and Neonatal Outcomes

Khattar, D., & Suhrie, K. R. (2023) · Cureus · doi:10.7759/cureus.34779 · Cited by 9

Utility of multimodality molecular profiling for pediatric patients with central nervous system tumors

Rajappa, P., Eng, K., Bareja, R., Bander, E. D., Yuan, M., Dua, A. N., Maachani, U. B., Snuderl, M., Pan, H., Zhang, T., et al. (2022) · Neuro-Oncology Advances · doi:10.1093/noajnl/vdac031 · Cited by 7

Ultra‐rapid whole genome sequencing: A paradigm shift in the pre‐transplant evaluation of neonatal acute liver failure

Thompson, W. S., Greenmyer, J. R., Lanpher, B. C., Brumbaugh, J. E., Bendel‐Stenzel, E., Dimmock, D., Hobbs, C. A., Ibrahim, S. H., & Hildreth, A. (2022) · Liver Transplantation · doi:10.1002/lt.26547 · Cited by 7

Artificial Intelligence in the Genetic Diagnosis of Rare Disease

James, K. N., Phadke, S. S., Wong, T. C., & Chowdhury, S. (2023) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2022.09.023 · Cited by 9

Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally Identified TTN -Encoded Titin Truncating Variants

Connell, P. S., Berkman, A. M., Souder, B. M., Pirozzi, E. J., Lovin, J. J., Rosenfeld, J. A., Liu, P., Tunuguntla, H. P., Allen, H. D., Denfield, S. W., et al. (2020) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.120.003131 · Cited by 7

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

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

Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.Preprint

Mark, P. R., Murray, S. A., Yang, T., Eby, A., Lai, A., Lu, D., Zieba, J. K., Rajasekaran, S., VanSickle, E., Rossetti, L. Z., et al. (2022) · PubMed Central · doi:10.1101/mcs.a006169 · Cited by 7

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

Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen

McBride, D. J., Fielding, C., Newington, T., Vatsiou, A. I., Fischl, H., Bajracharya, M., Thomson, V. S., Fraser, L. J., Fujita, P. A., Becq, J., et al. (2023) · International Journal of Neonatal Screening · doi:10.3390/ijns9030052 · Cited by 7

A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis

Vukadin, L., Park, B., Mohamed, M., Li, H., Elkholy, A., Torrelli-Diljohn, A., Kim, J., Jeong, K., Murphy, J. M., Harvey, C. A., et al. (2024) · JCI Insight · doi:10.1172/jci.insight.175053 · Cited by 6

Newborn screening in Mexico and Latin America: present and future

Gonzaga-Jauregui, C. G., Moreno‐Salgado, R., Tovar-Casas, J., & Navarrete‐Martínez, J. I. (2024) · Rare Disease and Orphan Drugs Journal · doi:10.20517/rdodj.2024.02 · Cited by 6

Consent for rapid genomic sequencing for critically ill children: legal and ethical issues

Gyngell, C., Lynch, F., Stark, Z., & Vears, D. F. (2021) · Bioethics News · doi:10.1007/s40592-021-00146-0 · Cited by 6

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 7

Better and faster is cheaper

Kobayashi, E. S., & Dimmock, D. (2022) · Human Mutation · doi:10.1002/humu.24422 · Cited by 8

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

Clinical Genomics in Critically Ill Infants and Children

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

Determining Cost-Optimal Next-Generation Sequencing Panels for Rare Disease and Pharmacogenomics Testing

Katragadda, S., Hall, T. O., Bettadapura, R., Dalton, J. C., Ganapathy, A., Ghana, P., Hariharan, R., Janakiraman, A., Kotha, K. B. V. S. S. P., Manjunath, A., et al. (2021) · Clinical Chemistry · doi:10.1093/clinchem/hvab059 · Cited by 6

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 7

Rapid Genome Sequencing in the Critically Ill

Buchan, J. G., White, S., Joshi, R., & Ashley, E. A. (2019) · Clinical Chemistry · doi:10.1373/clinchem.2018.293506 · Cited by 6

Diagnostic performance of pancreatic fluid aspiration through metagenomic next-generation sequencing for suspected infected pancreatic necrosis

Zhang, P., Lu, Z., Cao, L., Fu, L., Hu, C., & Sun, Y. (2024) · Digestive and Liver Disease · doi:10.1016/j.dld.2024.07.036 · Cited by 5

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

Standardized Criteria for Genomic Testing in the NICU

Helm, B. M., Hays, M., Swaggart, K. A., Parker, C. B., Thomas, V., Ware, S. M., & Suhrie, K. R. (2025) · PEDIATRICS · doi:10.1542/peds.2024-069591 · Cited by 6

View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children

Caillot, C., Javouhey, É., Haÿs, S., Gouy, E., Monin, P., Lesca, G., Sanlaville, D., & Chatron, N. (2025) · European Journal of Human Genetics · doi:10.1038/s41431-025-01869-y · Cited by 6

Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease

Marasà, M., Ahram, D. F., Rehman, A. U., Mitrotti, A., Abhyankar, A., Jain, N. G., Weng, P. L., Piva, S. E., Fernández, H., Uy, N., et al. (2023) · Kidney International Reports · doi:10.1016/j.ekir.2023.05.021 · Cited by 5

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

Panels, Exomes, Genomes, and More-Finding the Best Path Through the Diagnostic Odyssey.

Lenahan, A., Squire, A. E., & Miller, D. E. (2023) · The Pediatric clinics of North America · doi:10.1016/j.pcl.2023.06.001 · Cited by 4

2017-2023: state of the art of gene therapies in rare diseases in Europe: the dynamics of clinical R&D, new approved treatments and expected therapies in the pipelines

Gicquel, T., Cortial, L., Lutsyk, K., Forget, S., Braun, S., Boyer, P.-O., Laugel, V., & Blin, O. J. (2023) · Rare Disease and Orphan Drugs Journal · doi:10.20517/rdodj.2023.29 · Cited by 5

Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes

Kobayashi, E. S., Lotan, N. S., Schejter, Y., Makowski, C., Kraus, V., Ramchandar, N., Meiner, V., Thiffault, I., Farrow, E., Cakici, J. A., et al. (2024) · Jornal de Pediatria · doi:10.1016/j.jpeds.2024.114180 · Cited by 4

Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing

Helm, B. M., Helvaty, L. R., Conboy, E. E., Geddes, G. C., Graham, B. H., Lah, M. D., Wetherill, L. F., Landis, B. J., & Ware, S. M. (2024) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.70040 · Cited by 5

Exclusion-based exome sequencing in critically ill adults 18–40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing

Gold, J. I., Kripke, C. M., Mansfield, A. J., Li, A., Lopez, A., Hawes, A., Averitt, A., Damask, A., Deubler, A., Ziyatdinov, A., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.06.007 · Cited by 5

What does Australia’s investment in genomics mean for public health?

Belcher, A., Mangelsdorf, M., McDonald, F., Curtis, C., Waddell, N., & Hussey, K. E. (2019) · Australian and New Zealand Journal of Public Health · doi:10.1111/1753-6405.12887 · Cited by 5

Integrating Differential Gene Expression Analysis with Perturbagen-Response Signatures May Identify Novel Therapies for Thyroid-Associated Orbitopathy

Lee, J. Y., Gallo, R. A., Ledon, P. J., Tao, W., Tse, D. T., Pelaez, D., & Wester, S. T. (2020) · Translational Vision Science & Technology · doi:10.1167/tvst.9.9.39 · Cited by 5

Neonatal familial hemophagocytic lymphohistiocytosis diagnosed with ultrarapid whole‐genome sequencing

Greenmyer, J. R., Thompson, W. S., Mavis, S. C., Hassan, S. M., Weckwerth, J. A., Hobbs, C. A., James, K. N., Nahas, S., Galardy, P. J., & Collura, C. A. (2022) · Pediatric Blood & Cancer · doi:10.1002/pbc.29871 · Cited by 5

Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report

Uddin, M. S., Fulayyih, S. A., Denaini, F. F. A., & Hatlani, M. M. A. (2022) · American Journal of Case Reports · doi:10.12659/ajcr.935840 · Cited by 5

A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature

van der Velde, K. J., van den Hoek, S., van Dijk, F., Hendriksen, D., van Diemen, C. C., Johansson, L. F., Abbott, K. M., Deelen, P., Sikkema‐Raddatz, B., & Swertz, M. A. (2020) · Advanced Genetics · doi:10.1002/ggn2.10023 · Cited by 4

When Less is More: Lessons for Expanded Carrier Screening from Newborn Sequencing Research

Johnston, J. (2023) · The American Journal of Bioethics · doi:10.1080/15265161.2023.2210037 · Cited by 5

Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic TestingPreprint

Gold, J. I., Kripke, C. M., BioBank, P. M., & Drivas, T. G. (2024) · medRxiv · doi:10.1101/2024.03.11.24304088 · Cited by 5

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

Time tracking and comparison of genetic counseling tasks in inpatient and outpatient settings

Osborne, A., Bland, E., Diamonstein, C. J., & Fishler, K. P. (2024) · Journal of Genetic Counseling · doi:10.1002/jgc4.1935 · Cited by 4

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

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

Applications of Pharmacogenomics in Oncology

Ji, Y. (2018) · Advances in Molecular Pathology · doi:10.1016/j.yamp.2018.06.007 · Cited by 4

Exploring the Role of Genetic Testing in Decisions to Redirect Care in Critically Ill Infants

Mowery, A., Wong, B. G., Seale, J., & Brunelli, L. (2024) · American Journal of Hospice and Palliative Medicine® · doi:10.1177/10499091241296544 · Cited by 4

A de-novo NFIX mutation causes a case of neonatal lethal Marshall–Smith syndrome

Bupp, C. P., Junewick, J. J., & Hess, J. L. (2020) · Clinical Dysmorphology · doi:10.1097/mcd.0000000000000339 · Cited by 4

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

Genetic Etiologies, Diagnosis, and Management of Neonatal Cystic Kidney Disease

Heidenreich, L. S., Bendel‐Stenzel, E., Harris, P. C., & Hanna, C. (2022) · NeoReviews · doi:10.1542/neo.23-3-e175 · Cited by 4

Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders

Usera, A. D.-D., Rubio‐Rodríguez, L. A., Muñoz‐Barrera, A., Lorenzo-Salazar, J. M., Guillén‐Guío, B., Jáspez, D., Corrales, A., Íñigo-Campos, A., García‐Olivares, V., Pérez, M. D. C. R., et al. (2022) · Scientific Reports · doi:10.1038/s41598-022-20442-x · Cited by 3

Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report

Aniol, C. V., Prokop, J. W., Rajasekaran, S., Pageau, S. C., Elizer, S. K., VanSickle, E., & Bupp, C. P. (2023) · BMC Pediatrics · doi:10.1186/s12887-022-03818-w · Cited by 4

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

Diagnostic genomic sequencing in critically ill children

Auber, B., Schmidt, G., Du, C., & Hardenberg, S. V. (2023) · Medizinische Genetik · doi:10.1515/medgen-2023-2015 · Cited by 4

SAGe: A Lightweight Algorithm-Architecture Co-Design for Mitigating the Data Preparation Bottleneck in Large-Scale Genome Sequence Analysis

Ghiasi, N. M., Güloglu, T., Mustafa, H., Fırtına, C., Koliogeorgi, K., Kanellopoulos, K., Mao, H., Nadig, R., Sadrosadati, M., Park, J., et al. (2026) · IEEE International Symposium on High-Performance Computer Architecture (HPCA) · doi:10.1109/hpca68181.2026.11408512 · Cited by 5

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

Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing

Guo, F., Liu, R., Pan, Y., Colasanto, M. P., Collins, C. D., & Hegde, M. (2024) · Human Mutation · doi:10.1155/2024/9115364 · Cited by 3

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

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

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