Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

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

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

ggplot2: Elegant Graphics for Data Analysis

Wickham, H. (2009) · doi:10.1007/978-0-387-98141-3 · Cited by 14,447

Topology and data

Carlsson, G. (2009) · Bulletin of the American Mathematical Society · doi:10.1090/s0273-0979-09-01249-x · Cited by 2,302 · cited 1×

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

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

Semantic Similarity in a Taxonomy: An Information-Based Measure and its Application to Problems of Ambiguity in Natural Language

Resnik, P. (1999) · Journal of Artificial Intelligence Research · doi:10.1613/jair.514 · Cited by 2,083

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

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

Li, Q., & Wang, K. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.01.004 · Cited by 1,057

Mortality in the United States, 2020

Murphy, S. L., Kochanek, K. D., Xu, J., & Arias, E. (2021) · doi:10.15620/cdc:112079 · Cited by 864

Genetic Misdiagnoses and the Potential for Health Disparities

Manrai, A. K., Funke, B. H., Rehm, H. L., Olesen, M. S., Maron, B. A., Szolovits, P., Margulies, D. M., Loscalzo, J., & Kohane, I. S. (2016) · New England Journal of Medicine · doi:10.1056/nejmsa1507092 · Cited by 808

The ExAC browser: displaying reference data information from over 60 000 exomes

Karczewski, K. J., Weisburd, B., Thomas, B., Solomonson, M., Ruderfer, D. M., Kavanagh, D., Hamamsy, T., Lek, M., Samocha, K. E., Cummings, B. B., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw971 · Cited by 790

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

Ending a diagnostic odyssey—The first case of Takenouchi–Kosaki syndrome in an African patient

Flynn, K. A., Feben, C., Lamola, L., Carstens, N., Krause, A., & Lombard, Z. (2021) · Clinical Case Reports · doi:10.1002/ccr3.3966 · Cited by 16

High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench

Bergen, D. J. M., Maurizi, A., Formosa, M. M., McDonald, G. L. K., El‐Gazzar, A., Hassan, N., Brandi, M. L., Riancho, J. A., Rivadeneira, F., Ntzani, E., et al. (2020) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.4715 · Cited by 17

DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age

Peeters, S., Declerck, K., Thomas, M., Boudin, E., Beckers, D., Chivu, O., Heinrichs, C., Devriendt, K., de Zegher, F., Hul, W. V., et al. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa465 · Cited by 16

The Potential of Research Drawing on Clinical Free Text to Bring Benefits to Patients in the United Kingdom: A Systematic Review of the Literature

Ford, E. M., Curlewis, K., Squires, E., Griffiths, L. J., Stewart, R. J., & Jones, K. H. (2021) · Frontiers in Digital Health · doi:10.3389/fdgth.2021.606599 · Cited by 15

Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases

Findley, T. O., Parchem, J. G., Ramdaney, A., & Morton, S. U. (2023) · Translational Pediatrics · doi:10.21037/tp-23-54 · Cited by 18

Lung biopsy in children's interstitial and diffuse lung disease: Does it alter management?

Hafezi, N., Heimberger, M. A., Lewellen, K. A., Maatman, T. K., Montgomery, G. S., & Markel, T. A. (2020) · Pediatric Pulmonology · doi:10.1002/ppul.24683 · Cited by 15

Moving Genomics to Routine Care

Aryan, Z., Szántó, A., Pantazi, A., Reddi, T. S., Rheinstein, C., Powers, W., Wilson, E., Deo, R. C., Chowdhury, S., Salz, L., et al. (2020) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.120.002961 · 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

Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders

Chen, F., Ahimaz, P. R., Nguyen, Q. M., Lewis, R., Chung, W. K., Ta, C., Szigety, K. M., Sheppard, S. E., Campbell, I. M., Wang, K., et al. (2024) · npj Digital Medicine · doi:10.1038/s41746-024-01331-1 · Cited by 15

Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease

Shen, L., McCormick, E. M., Muraresku, C. C., Falk, M. J., & Gai, X. (2020) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2020.02.002 · Cited by 15

Molecular testing for acute myeloid leukemia

Qin, D. (2021) · Cancer Biology and Medicine · doi:10.20892/j.issn.2095-3941.2020.0734 · Cited by 14

Clinical Massively Parallel Sequencing

Gao, G., & Smith, D. I. (2019) · Clinical Chemistry · doi:10.1373/clinchem.2019.303305 · Cited by 14

Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporterPreprint

Oltvai, Z. N., Smith, E. A., Wiens, K. M., Nogee, L. M., Luquette, M. H., Nelson, A., & Wikenheiser‐Brokamp, K. A. (2020) · Molecular Case Studies · doi:10.1101/mcs.a005074 · Cited by 13

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

Seltene Erkrankungen in der Pädiatrie – von der Diagnostik und Behandlung einzelner Erkrankungen zum Aufbau von Netzwerkstrukturen

Hoffmann, G. F., Mundlos, C., Dötsch, J., & Hebestreit, H. U. (2020) · Monatsschrift Kinderheilkunde · doi:10.1007/s00112-020-00978-w · Cited by 12

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

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

Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation

Mackley, M. P., Agrawal, P. B., Ali, S., Archibald, A. D., McClaren, B., Ellard, H., Freeman, L., Gu, Y., Jayasinghe, K., Jiang, S., et al. (2025) · European Journal of Human Genetics · doi:10.1038/s41431-025-01925-7 · Cited by 14

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

Genetic testing for diffuse lung diseases in children

Hamvas, A., Chaudhari, B. P., & Nogee, L. M. (2023) · Pediatric Pulmonology · doi:10.1002/ppul.26447 · Cited by 11

Promises and challenges of genomic newborn screening (NBS) – lessons from public health NBS programs

Mori, M., Chaudhari, B. P., Ream, M. A., & Kemper, A. R. (2024) · Pediatric Research · doi:10.1038/s41390-024-03689-0 · Cited by 11

Big data and transformative bioinformatics in genomic diagnostics and beyond

Saparov, A., & Zech, M. (2025) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2025.107311 · Cited by 11

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

Pitsava, G., Hawley, M. H., Auriga, L., Dios, I. D., Ko, A., Marmolejos, S., Almalvez, M., Chen, I., Scozzaro, K., Zhao, J., et al. (2025) · Genetics in Medicine · doi:10.1016/j.gim.2025.101574 · Cited by 11

Third case of Bardet‐Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74

Mardy, A. H., Hodoğlugil, U., Yip, T., & Slavotinek, A. M. (2021) · Clinical Genetics · doi:10.1111/cge.13962 · Cited by 11

The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study

Tolomeo, D., Orsucci, D., Nesti, C., Baldacci, J., Battini, R., Bruno, C., Bruno, G., Cassandrini, D., Doccini, S., Donati, M. A., et al. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10153222 · Cited by 11

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

Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis

Berger, S., Pitsava, G., Cohen, A. J., Délot, E. C., LoTempio, J. E., Andrew, E. H., Martin, G. M., Marmolejos, S., Albert, J., Meltzer, B., et al. (2023) · Clinical Genetics · doi:10.1111/cge.14360 · 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

Is Rapid Exome Sequencing Standard of Care in the Neonatal and Pediatric Intensive Care Units?

Kingsmore, S. F. (2020) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2020.08.006 · 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

Applications of genome sequencing as a single platform for clinical constitutional genetic testing

Yang, Y., del Gaudio, D., Santani, A., & Scott, S. A. (2024) · Genetics in Medicine Open · doi:10.1016/j.gimo.2024.101840 · Cited by 10

Breaking barriers: fostering equitable access to pediatric genomics through innovative care models and technologies

Jenkins, S. M., Palmquist, R. N., Shayota, B. J., Solorzano, C. M., Bonkowsky, J. L., Estabrooks, P. A., & Tristani‐Firouzi, M. (2025) · Pediatric Research · doi:10.1038/s41390-025-03859-8 · Cited by 12

AI applications in prevalent diseases and disorders

Catania, L. J. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-824477-7.00007-9 · Cited by 11

Detection of Point Mutations and Chromosomal Translocations Based on Massive Parallel Sequencing of Enriched 3C Libraries

Mozheiko, E., & Fishman, V. (2019) · Russian Journal of Genetics · doi:10.1134/s1022795419100089 · Cited by 10

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

Parikh, J. R., Genetti, C. A., Aykanat, A., Brownstein, C. A., Schmitz‐Abe, K., Danowski, M. E., Quitadomo, A., Madden, J. A., Yacoubian, C., Gain, R., et al. (2021) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2021.100035 · 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

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

CiMBA: Accelerating Genome Sequencing Through On-Device Basecalling via Compute-in-Memory

Simon, W., Boybat, I., Kodra, R., Ferro, E., Singh, G., Alser, M., Jain, S., Tsai, H.-Y. S., Burr, G. W., Mutlu, O., et al. (2025) · IEEE Transactions on Parallel and Distributed Systems · doi:10.1109/tpds.2025.3550811 · Cited by 9

In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2019

Chitty, L. S., Hui, L., Ghidini, A., Levy, B., Deprest, J. A., Mieghem, T. V., & Bianchi, D. W. (2019) · Prenatal Diagnosis · doi:10.1002/pd.5632 · Cited by 9

Enhanced childhood diseases treatment using computational models: Systematic review of intelligent experiments heading to precision medicine

Kalhori, S. R. N., Tanhapour, M., & Gholamzadeh, M. (2021) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2021.103687 · Cited by 9

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

2022: A pivotal year for diagnosis and treatment of rare genetic diseasesPreprint

Kingsmore, S. F. (2022) · Molecular Case Studies · doi:10.1101/mcs.a006204 · Cited by 9

Computational and Experimental Analysis of Genetic Variants

Prokop, J. W., Jdanov, V., Savage, L., Morris, M., Lamb, N. E., VanSickle, E., Stenger, C. L., Rajasekaran, S., & Bupp, C. P. (2022) · Comprehensive physiology · doi:10.1002/cphy.c210012 · Cited by 12

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

Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results

Swanson, K., Hodoğlugil, U., Sparks, T. N., Lianoglou, B. R., Slavotinek, A. M., & Norton, M. E. (2025) · Prenatal Diagnosis · doi:10.1002/pd.6886 · 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

Acute symptomatic seizures in newborns: a narrative review

Spagnoli, C., & Pisani, F. (2024) · Acta Epileptologica · doi:10.1186/s42494-024-00151-w · Cited by 8

Computational Approaches for Unraveling the Effects of Variation in the Human Genome and Microbiome

Zhu, C., Miller, M., Zeng, Z., Wang, Y., Mahlich, Y., Aptekmann, A. A., & Bromberg, Y. (2020) · Annual Review of Biomedical Data Science · doi:10.1146/annurev-biodatasci-030320-041014 · Cited by 8

Lifelong prevention of cardiovascular disease. Part I: preconceptional, prenatal and infant periods of life

Викторовна, К. О., Ershova, A. I., Meshkov, A. N., & Drapkina, O. M. (2020) · CARDIOVASCULAR THERAPY AND PREVENTION · doi:10.15829/1728-8800-2020-2647 · 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

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

Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review

Huang, Z., Lu, W., Zhang, P., Lu, Y., Chen, L., Kang, W., Yang, L., Li, G., Zhu, J., Wu, B., et al. (2023) · Annals of Translational Medicine · doi:10.21037/atm-22-4396 · 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

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

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

Pediatric Predictive Artificial Intelligence Implemented in Clinical Practice from 2010 to 2021: A Systematic Review

Kandaswamy, S., Knake, L. A., Dziorny, A. C., Hernandez, S., McCoy, A. B., Hess, L. M., Orenstein, E. W., White, M. S., Kirkendall, E. S., Molloy, M. J., et al. (2025) · Applied Clinical Informatics · doi:10.1055/a-2521-1508 · Cited by 7

Determining pediatric nurses' anxiety levels, concerns, and metaphor perceptions towards artificial intelligence technologies: A mixed-method study

Tutar, Ş., Özgörü, H., & Öğür, Z. (2025) · Journal of Pediatric Nursing · doi:10.1016/j.pedn.2025.09.005 · Cited by 9

Diagnosis of a Single-Nucleotide Variant in Whole-Exome Sequencing Data for Patients With Inherited Diseases: Machine Learning Study Using Artificial Intelligence Variant Prioritization

Huang, Y., Hsu, C., Chune, Y.-C., Liao, I.-C., Wang, H., Lin, Y., Hwu, W., Lee, N., & Lai, F. (2022) · JMIR Bioinformatics and Biotechnology · doi:10.2196/37701 · Cited by 7

Natural language processing in the intensive care unit: A scoping review

Pilowsky, J. K., Choi, J.-W., Saavedra, A. F., Daher, M., Nguyen, N., Williams, L., & Jones, S. L. (2024) · Critical Care and Resuscitation · doi:10.1016/j.ccrj.2024.06.008 · Cited by 8

Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results

Zhang‐Rutledge, K., Owen, M. J., Sweeney, N. M., Dimmock, D., Kingsmore, S. F., & Laurent, L. C. (2022) · Prenatal Diagnosis · doi:10.1002/pd.6111 · Cited by 7

Gross motor function prediction using natural language processing in cerebral palsy

Greve, K. R., Ni, Y., Bailes, A. F., Vargus‐Adams, J. N., Miley, A. E., Aronow, B. J., McMahon, M. M., Kurowski, B. G., & Mitelpunkt, A. (2022) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.15301 · 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

Exploring the Landscape, Hot Topics, and Trends of Electronic Health Records Literature with Topics Detection and Evolution Analysis

Qian, Y., Ni, Z., Gui, W., & Liu, Y. (2021) · International Journal of Computational Intelligence Systems · doi:10.2991/ijcis.d.210203.006 · 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

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

Role of artificial intelligence in pediatric intensive care: a survey of healthcare staff perspectives in Saudi Arabia

Al-Sofyani, K. A. (2025) · Frontiers in Pediatrics · doi:10.3389/fped.2025.1533877 · Cited by 10

The Role of Artificial Intelligence in Pediatric Intensive Care: A Systematic Review

Abdallah, A. B. A. A., Sadaka, S. I. H., Ali, E. I., Bilal, S. A. M., Abdelrahman, M. O., Mohammed, F. B. F., Ahmed, S. D. N., & Saeed, N. E. A. (2025) · Cureus · doi:10.7759/cureus.80142 · Cited by 8

GenomeDiver: a platform for phenotype-guided medical genomic diagnosis

Pearson, N. M., Stolte, C., Shi, K. Y., Beren, F., Abul‐Husn, N. S., Bertier, G., Brown, K. M., Díaz, G. A., Odgis, J. A., Suckiel, S. A., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01219-5 · Cited by 7

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

The arrival of personalized genomics in bone marrow failure

Włodarski, M. W. (2021) · Haematologica · doi:10.3324/haematol.2020.265124 · Cited by 7

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

Internet-Based Abnormal Chromosomal Diagnosis During Pregnancy Using a Noninvasive Innovative Approach to Detecting Chromosomal Abnormalities in the Fetus: Scoping Review

Oyovwi, M. O., Ejiro, O. P., Rotu, R. A., & Olowe, G. T. (2024) · JMIR Bioinformatics and Biotechnology · doi:10.2196/58439 · Cited by 5

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

RattlesnakeJake: A Fast and Accurate Pre-alignment Filter Suitable for Computation-in-Memory

Shahroodi, T., Miao, M., Zahedi, M., Wong, S., & Hamdioui, S. (2023) · Lecture notes in computer science · doi:10.1007/978-3-031-46077-7_14 · Cited by 5

KI in Gesundheit und Medizin

Buchkremer, R., de Witte, B., & Matusiewicz, D. (2020) · FOM-Edition · doi:10.1007/978-3-658-29550-9_21 · Cited by 5

A Framework for Designing Efficient Deep Learning-Based Genomic BasecallersPreprint

Singh, G., Alser, M., Denolf, K., Fırtına, C., Khodamoradi, A., Cavlak, M. B., Corporaal, H., & Mutlu, O. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.11.20.517297 · Cited by 5

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

Natural Language Processing in der KI

Buchkremer, R. (2020) · FOM-Edition · doi:10.1007/978-3-658-29550-9_2 · Cited by 6

SieveMem: A Computation-in-Memory Architecture for Fast and Accurate Pre-Alignment

Shahroodi, T., Miao, M., Zahedi, M., Wong, S., & Hamdioui, S. (2023) · IEEE International Conference on Application-specific Systems, Architectures and Processors (ASAP) · doi:10.1109/asap57973.2023.00035 · 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

Biochemical genetic disorders

Edmondson, A. C., & Bennett, M. J. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-817962-8.00001-9 · Cited by 4

Artificial Intelligence in Pediatrics

Kelly, C. J., Brown, A. P. Y., & Taylor, J. A. (2021) · Springer eBooks · doi:10.1007/978-3-030-58080-3_316-1 · Cited by 4

Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing

Ruiz-Schultz, N., Asay, B., & Rohrwasser, A. (2021) · International Journal of Neonatal Screening · doi:10.3390/ijns7040063 · Cited by 4

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

AI in Genomics and Epigenomics

Fishman, V., Sindeeva, M., Chekanov, N., Shashkova, T., Ivanisenko, N. V., & Kardymon, O. L. (2023) · Healthy ageing and longevity · doi:10.1007/978-3-031-35176-1_11 · Cited by 4

The past and future of genetics in pulmonary disease: You can teach an old dog new tricks

Nogee, L. M., & Hamvas, A. (2020) · Pediatric Pulmonology · doi:10.1002/ppul.24669 · 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

Integrating the Continuum of Genetic Testing From Fetus to Neonate: A Review of Prenatal Genetic Testing and the Overlap With Newborn Testing

Harris, S. C., & Vora, N. L. (2025) · Prenatal Diagnosis · doi:10.1002/pd.6849 · Cited by 3

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

emGene: An Embodied LLM NGS Sequencer for Real-Time Precision Diagnostics

Luo, S., Yu, A., Xie, Z., Huang, H. B., Huang, M., Li, K., Pun, Y. K., Guo, Z., Li, S., Zhu, Y., et al. (2025) · Integrated Circuits and Systems · doi:10.23919/ics.2025.3552542 · Cited by 3

Whole-exome and whole-genome sequencing in the molecular diagnostic laboratory

Khan, W. A. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-822824-1.00012-2 · Cited by 3

Current AI applications in medical therapies and services

Catania, L. J. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-824477-7.00013-4 · Cited by 3

Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases

Ouyang, X., Chi, D., Zhang, Y., Tian, Y., Zhang, Q., Xu, L., Zhang, V. W., & Wang, B. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2025.1526077 · Cited by 2

GenPairX: A Hardware-Algorithm Co-Designed Accelerator for Paired-End Read Mapping

Eudine, J., Li, C., Cheng, Z., Andri, R., Fırtına, C., Sadrosadati, M., Ghiasi, N. M., Koliogeorgi, K., Nag, A., Tavakkol, A., et al. (2026) · IEEE International Symposium on High-Performance Computer Architecture (HPCA) · doi:10.1109/hpca68181.2026.11408446 · Cited by 2

RankVar: machine learning-based variant ranking and reinterpretation for rare genetic diseases

Zhang, Y., Ahsan, M. U., Wang, P., Lin, X., Campbell, I. M., Liu, C., Chung, W. K., Weng, C., & Wang, K. (2026) · Genome Medicine · doi:10.1186/s13073-026-01701-2 · Cited by 1

AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease

Bouzinier, M., Etin, D., Trifonov, S. I., Evdokimova, V. N., Ulitin, V., Shen, J., Kokorev, A. M., Ghazani, A. A., Chekaluk, Y. I., Albertyn, Z., et al. (2022) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2022.104174 · Cited by 2

[Application of the artificial intelligence-rapid whole-genome sequencing diagnostic system in the neonatal/pediatric intensive care unit].

Luo, F., & Li, H. (2021) · Europe PMC (PubMed Central) · doi:10.7499/j.issn.1008-8830.2012143

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 76

Rapid neonatal diagnosis

Stower, H. (2019) · Nature Medicine · doi:10.1038/s41591-019-0487-2

Rapid diagnostic genome sequencing for genetic diseases in inpatients: an emerging new standard-of-care

Kingsmore, S. F. (2023) · Pathology · doi:10.1016/j.pathol.2022.12.003

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