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

A Bayesian precision medicine framework for calibrating individualized therapeutic indices in cancer

Saha, A., Ha, M. J., Acharyya, S., & Baladandayuthapani, V. (2022) · The Annals of Applied Statistics · doi:10.1214/21-aoas1550 · Cited by 3

Echtvar: compressed variant representation for rapid annotation and filtering of SNPs and indels

Pedersen, B. S., & de Ridder, J. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac931 · Cited by 3

Extracorporeal Membrane Oxygenation (ECMO) for suspected neonatal genetic diagnoses with cardiorespiratory failure

Ikeri, K., Cardona, V. Q., Joshi, S., & Menkiti, O. R. (2023) · Journal of ExtraCorporeal Technology · doi:10.1051/ject/2023016 · Cited by 3

Australian parental perceptions of genomic newborn screening for non-communicable diseases

Casauria, S., Lewis, S., Lynch, F., & Saffery, R. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1209762 · Cited by 3

The implementation and utility of clinical exome sequencing in a South African infant cohort

Campbell, L. J., Fredericks, J., Mathivha, K. T., Moshesh, P., Coovadia, A. H., Chirwa, P., Dillon, B., Ghoor, A., Lawrence, D., Nair, L. J., et al. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1277948 · Cited by 4

Identification of a Novel Likely Pathogenic TPM1 Variant Linked to Hypertrophic Cardiomyopathy in a Family with Sudden Cardiac Death

Azimi, A., Soveizi, M., Salmanipour, A., MozafaryBazargany, M., Jolfayi, A. G., Maleki, M., & Kalayinia, S. (2024) · ESC Heart Failure · doi:10.1002/ehf2.14906 · Cited by 3

Partnering With Faith Communities to Increase Knowledge of Precision Medicine and Genetic Research in the Black Community

Dowe, B., Iheanyi-Okeahialam, C., Washington, A., Bock, C. H., Kinney, T.-N., Brown-Miller, V., West, J. H., Sims, C., Chapman, R., Marks, B., et al. (2025) · Cancer Control · doi:10.1177/10732748251343247 · Cited by 3

Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome

Friedman, J., Bird, L. M., Haas, R., Robbins, S. L., Nahas, S., Dimmock, D., Yousefzadeh, M. J., Witt, M. A., Niedernhofer, L. J., & Chowdhury, S. (2021) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1623 · Cited by 3

Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review

Heath, O., Pandithan, D., Pitt, J., Savva, E., Raiti, L., Bracken, J., Vandeleur, M., Delatycki, M. B., Yaplito‐Lee, J., Hardikar, W., et al. (2023) · JIMD Reports · doi:10.1002/jmd2.12390 · Cited by 2

Next-generation Sequencing in Newborn Screening: A Review on Clinical and Economic Prospects

Mittal, A. K., Shekhawat, D. S., Joshi, V., Singh, P., & Singh, K. (2022) · The Open Biotechnology Journal · doi:10.2174/18740707-v16-e221213-2022-6 · Cited by 4

Using an experiment among clinical experts to determine the cost and clinical impact of rapid whole exome sequencing in acute pediatric settings

Kapol, N., Kamolvisit, W., Kongkiattikul, L., Huang-Ku, E., Sribundit, N., Lochid-amnuay, S., Samprasit, N., Dulsamphan, T., Juntama, P., Suwanpanich, C., et al. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2023.1204853 · Cited by 2

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

Rapid whole genome sequencing in newborn screening for metabolic diseases

Zheng, J., & Yang, X. (2025) · Frontiers in Pediatrics · doi:10.3389/fped.2025.1686738 · 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

Uncertain, Not Unimportant: Callosal Dysgenesis and Variants of Uncertain Significance in ROBO1

Woodring, T. S., Mirza, M. H., Benavides, V. C., Ellsworth, K. A., Wright, M. S., Javed, M. J., & Ramiro, S. (2021) · PEDIATRICS · doi:10.1542/peds.2020-019000 · Cited by 2

Intensive Care Clinicians’ Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants

Poogoda, S., Lynch, F., Stark, Z., Wilkinson, D. J. C., Savulescu, J., Vears, D. F., & Gyngell, C. (2023) · Children · doi:10.3390/children10060970 · Cited by 2

Exploring collaboration models between geneticists and intensivists for implementing rapid genome sequencing in critical care settings

Fishler, K. P., Steber, H. S., Brunelli, L., & Shope, R. J. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63318 · Cited by 2

A rare homozygous ALX4 mutation in a Bangladeshi girl with frontonasal dysplasia type-2 (FND2)

Goswami, B., Rahman, A., Jahan, I., Akter, S., Banu, T. A., Osman, E., Uzzaman, M. S., Habib, A., Alam, M. S., Obaida, A. S. M. A., et al. (2024) · Heliyon · doi:10.1016/j.heliyon.2024.e34929 · Cited by 2

Non-Genetic Healthcare Providers’ Experiences and Perspectives with Rapid Genome-Wide Sequencing in Canadian Neonatal Intensive Care Units

Piers, L., Wainstein, T., Pelligra, G., Osiovich, H. C., Study, G., & Elliott, A. M. (2024) · Children · doi:10.3390/children11080910 · Cited by 2

The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit

Jenkins, S. M., Palmquist, R. N., Moore, B., Boyden, S. E., Nicholas, T. J., Bayrak‐Toydemir, P., Mao, R., Farrell, J. A. R., Holt, C., Rynearson, S. G., et al. (2025) · npj Genomic Medicine · doi:10.1038/s41525-025-00483-7 · Cited by 2

Ethics and the Genome in the NICU: Stewardship from the Bedside Nurse

Poston, R. D., Bernstein, J., & Braid, S. (2019) · Neonatal Network The Journal of Neonatal Nursing · doi:10.1891/0730-0832.38.5.286 · Cited by 2

The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition

Lee, I., Negron, J. A., Hernandéz-Ferrer, C., Alvarez, W. J., Mandl, K. D., & Kong, S. W. (2019) · Human Mutation · doi:10.1002/humu.23942 · Cited by 2

A novel pathogenesis concept of biliary atresia approached by combined molecular strategies

Laochareonsuk, W., Surachat, K., Chiengkriwate, P., & Sangkhathat, S. (2022) · PLoS ONE · doi:10.1371/journal.pone.0277334 · Cited by 2

The Future of Newborn Genomic Testing

Lantos, J. D. (2023) · Children · doi:10.3390/children10071140 · Cited by 2

Parents’ Perspectives on Secondary Genetic Ancestry Findings in Pediatric Genomic Medicine

Richards, J. L., & Knight, S. J. (2023) · Clinical Therapeutics · doi:10.1016/j.clinthera.2023.06.001 · Cited by 2

Rapid Whole Genome Sequencing in Critically Ill Newborns

Lewis, R. G., O’Shea, J., Best, D. H., & Fulmer, M. L. (2023) · Advances in Molecular Pathology · doi:10.1016/j.yamp.2023.08.006 · Cited by 2

Genomic Sequencing for Infants and Children in Intensive Care Units

Carey, A. S., & Chung, W. K. (2019) · Current Pediatrics Reports · doi:10.1007/s40124-019-00196-3 · Cited by 2

Adapting Clinical Systems to Enable Adolescents' Genomic Choices

Prows, C. A., Marsolo, K. A., Myers, M. F., Nix, J., & Hall, E. S. (2020) · ACI Open · doi:10.1055/s-0040-1718747 · Cited by 2

Automated Prioritization of Sick Newborns for Whole Genome Sequencing Using Clinical Natural Language Processing and Machine LearningPreprint

Peterson, B. D., Hernandez, J., Hobbs, C. A., Jenkins, S. M., Moore, B., Juarez, E. F., Zoucha, S., Kobayashi, E. S., Bainbridge, M. N., Oriol, A., et al. (2022) · medRxiv · doi:10.1101/2022.05.06.22274688 · Cited by 2

Rapid Targeted Genomic Testing: A Powerful Tool for Diagnostic Evaluation of Critically Ill Neonates and Infants With Suspected Genetic Diseases

Jang, M. (2022) · Annals of Laboratory Medicine · doi:10.3343/alm.2023.43.3.223 · Cited by 2

Neonatal Seizures

Carrasco, M., & Stafstrom, C. E. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-69415-5.00049-7 · Cited by 1

Flexible, production-scale, human whole genome sequencing on a benchtop sequencer

Green, K., Krajacich, B. J., Wiseman, K. N., Mains, P. T., Robertson, S., Billings, S., McCowin, M., Sudkamp, M., Lo, C. S., Lajoie, B. R., et al. (2025) · BMC Genomics · doi:10.1186/s12864-025-11741-4 · Cited by 1

Trio-Based Whole-Genome Sequencing for Critically Ill Pediatric Patients in Korea

Lee, S., Koh, J., Lim, J., Cho, J., Kim, W. J., Lee, Y., Yi, B., Joo, E., Jung, D., Lim, B. C., et al. (2025) · Journal of Child Neurology · doi:10.1177/08830738251344996 · Cited by 1

MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission

Peterson, B. D., Juarez, E. F., Moore, B., Hernandez, E. J., Frise, E., Li, J., Lussier, Y. A., Tristani‐Firouzi, M., Reese, M. G., Jenkins, S. M., et al. (2025) · npj Genomic Medicine · doi:10.1038/s41525-025-00506-3 · Cited by 2

Genetic testing for infantile-onset epilepsies in resource-limited settings

Srivastava, P., Negi, S., Baltuano, M., Reynoso-Osnayo, C., Mohamed, A. R., & Sahu, J. K. (2025) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2025.101204 · Cited by 1

Evaluating first‐line genetic testing strategies for inpatients with congenital heart defects

Lindstrom, A., Breman, A. M., Fitzgerald‐Butt, S. M., Helvaty, L. R., Ware, S. M., & Helm, B. M. (2025) · Journal of Genetic Counseling · doi:10.1002/jgc4.70073 · Cited by 1

Impact of genomic sequencing information on physicians’ treatment recommendations for children with congenital heart disease

Char, D. S., Deuitch, N. T., Berent, M. K., Chung, W. K., Krosnick, J. A., & Magnus, D. C. (2025) · Genetics in Medicine Open · doi:10.1016/j.gimo.2025.103470 · Cited by 1

Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population

Tabassum, I., Shafique, M. U., & Akhtar, M. S. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms27010206 · Cited by 1

Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing

Sirchia, F., Kalantari, S., Carli, D., Zadorozhna, M., Bassanese, F., Thorpe, E., Taft, R. J., Kesari, A., Sorasio, L., Antona, V., et al. (2026) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2026.01.004 · Cited by 1

Evaluating genetic-based disease prediction approaches through simulation

Shpak, M., Parfitt, E. J., Mahmoudiandehkordi, S., Maadooliat, M., & Schrodi, S. J. (2026) · Human Genetics · doi:10.1007/s00439-025-02798-y · Cited by 2

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

Kessler, C., Schuler, B. A., Jasper, E. A., Talbert, J. L., Duncan, L., & Mosera, M. (2026) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.70083 · Cited by 2

Efficacy of universal genome sequencing in infant extracorporeal membrane oxygenation

Carr, N., Fulmer, M. L., Rumpel, J. A., Makkar, A., Mahmood, B., Keene, S. D., Rintoul, N. E., Wild, K. T., Ashrafi, A., Gogcu, S., et al. (2026) · Journal of Perinatology · doi:10.1038/s41372-026-02716-8 · Cited by 1

Molecular diagnostic yield of exome sequencing and genome sequencing in critical ill neonates and infants: A systematic review and meta-analysis

Yang, J., Li, Q., Zhao, S., Wu, Z., Zhang, T. J. G., Chen, Z., & Wu, N. (2026) · Genetics in Medicine · doi:10.1016/j.gim.2026.102627 · Cited by 1

Enabling Fast, Efficient, and Low-Cost Genomic and Metagenomic Analyses via Storage-Centric System Designs

Ghiasi, N. M., & Mutlu, O. (2026) · International Conference on Supercomputing · doi:10.1145/3774895.3815157 · Cited by 1

Artificial intelligence-assisted disease diagnosis: A narrative review of diagnostic advances and challenges toward clinical integration

Dong, C., Liu, Y., Yin, J., Yan, W., Sun, J., Zhang, X., Huo, S., Yu, F., & Zhou, Y. (2026) · Digital Health · doi:10.1177/20552076261474637 · Cited by 3

Citywide implementation of a rapid whole-genome sequencing program for critically ill pediatric patients

Rabea, F., AlJasmi, I., Jain, R., Ramaswamy, S., Taylor, A., Shenbagam, S., Chekroun, I., Sinha, S., Naofal, M. E., Yaslam, S., et al. (2026) · Nature Medicine · doi:10.1038/s41591-026-04598-x · Cited by 1

Foundations and Application of Precision Medicine

Ginsburg, G. S., & Haga, S. B. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-812537-3.00002-0 · Cited by 2

Genomic medicine for the paediatrician

Hastings, R., & Dixit, A. (2019) · Paediatrics and Child Health · doi:10.1016/j.paed.2019.01.015 · Cited by 1

Evaluating Genetic Disorders in the Neonate: The Role of Exome Sequencing in the NICU

Senaratne, T. N., & Saitta, S. C. (2022) · NeoReviews · doi:10.1542/neo.23-12-e829 · Cited by 2

“We’ve opened pandora’s box, haven’t we?” clinical geneticists’ views on ethical aspects of genomic testing in neonatal intensive care

Arsov, T. (2022) · Balkan Journal of Medical Genetics · doi:10.2478/bjmg-2022-0013 · Cited by 1

Preparedness and training of genetic counselors practicing in inpatient settings

Mancl, N., Myers, M. F., Miller, E. M., Jackson, F., & Widmeyer, K. M. (2023) · Journal of Genetic Counseling · doi:10.1002/jgc4.1754 · Cited by 1

Can knowledgeable experts assess costs and outcomes as if they were ignorant? An experiment within precision medicine evaluation

Dulsamphan, T., Juntama, P., Suwanpanich, C., Isaranuwatchai, W., Silzle, M., Poonmaksatit, S., Boonsimma, P., Shotelersuk, V., Visudtibhan, A., Lusawat, A., et al. (2023) · International Journal of Technology Assessment in Health Care · doi:10.1017/s0266462323002714 · Cited by 1

Assessing the impact of psychiatric genetic counseling on psychiatric hospitalizations

Morris, E. M., McGrail, K. M., Cressman, S., Stewart, S. E., & Austin, J. (2024) · Clinical Genetics · doi:10.1111/cge.14493 · Cited by 1

Rapid Whole-Genome Sequencing in Acutely Ill Children: A Single Pediatric Center Experience

Totapally, B., Jayakar, P., Diaz-Barbosa, M., Sasaki, J. D., Jayakar, A., Sendi, P. R., Soler, D., Janvier, M., Espinal, P., Gupta, A., et al. (2024) · Journal of Pediatric Intensive Care · doi:10.1055/s-0044-1790556 · Cited by 1

Where the Genetic Code Meets the Zip Code: Advancing Equity in Rare Disease Genomics

Wojcik, M. H., Smith, H. S., & Fraiman, Y. S. (2024) · The Hastings Center Report · doi:10.1002/hast.4929 · Cited by 1

The Role of Genetic Testing in Palliative Care Decisions for Critically Ill Newborns

Mowery, A., & Brunelli, L. (2025) · Children · doi:10.3390/children12050634 · Cited by 1

Diagnostic Yield and Cost-Benefit When Utilizing Clinical Whole Genome Sequencing

Rajan, V., Terry, S. F., Green, J. E., & Ortega, J. L. (2022) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2022.0096 · Cited by 1

Whole genome sequencing for newborns—The devil is in the details

Vona, B. (2022) · Clinical and Translational Discovery · doi:10.1002/ctd2.102 · Cited by 1

Exome Sequencing in Gastrointestinal Food Allergy Induced by Multiple Food Protein

Juan, A. S. (2019) · RiuNet (Universitat Politècnica de València) · doi:10.4995/thesis/10251/134361 · Cited by 1

Accelerating the Understanding of Life's Code Through Better Algorithms and Hardware DesignPreprint

Alser, M. (2019) · arXiv (Cornell University) · doi:10.48550/arxiv.1910.03936

Detecção de microdeleções do cromossomo Y em pacientes inférteis, comparando os resultados obtidos pelas técnicas de PCR e MLPA

Franchim, C. S. (2018) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.5.2018.tde-05122018-123305

“Genethics” and Public Health Genomics

Niemiec, E., & Howard, H. C. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-813695-9.00013-3

Genomics for the Neonatologist

Hastings, R., & Dixit, A. (2020) · Springer eBooks · doi:10.1007/978-3-030-28829-7_32

Response to Ferket et al.

SCHOFIELD, D. J., Rynehart, L., Shresthra, R., White, S. M., & Stark, Z. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0889-z

Artificial Intelligence in the Genetic Diagnosis of Rare Disease

James, K. N., Phadke, S. S., Wong, T. C., & Chowdhury, S. (2020) · Advances in Molecular Pathology · doi:10.1016/j.yamp.2020.07.013

Approaches to the comprehensive interpretation of genome-scale sequencing

Austin-Tse, C. A., & Ceyhan‐Birsoy, O. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-820519-8.00012-0 · Cited by 1

Rapid Exome Sequencing for Critically Ill Children: Implementation and Challenges in the Asian ContextPreprint

Fong, N., Lim, J. Y., Cham, B., Kam, S., Goh, C. Y. J., Wei, H., Tan, Y. M., Ee, H. J., Ching, L. K., Low, W., et al. (2021) · Research Square · doi:10.21203/rs.3.rs-384663/v1

Neonatal Hereditary Fructose Intolerance

Lee, J., Arenth, J., & Kasi, N. (2021) · JPGN Reports · doi:10.1097/pg9.0000000000000076

Precision Medicine with Genetic Testing in Neonatal Intensive care

Anand, V., Pournami, F., Nandakumar, A., Prabhakar, J., & Jain, N. (2021) · Journal of Child Science · doi:10.1055/s-0041-1733875

Current Tools, Databases, and Resources for Phenotype and Variant Analysis of Clinical Exome Sequencing

McNulty, S. M., Cole, Y., Powell, B. C., & Rentas, S. (2021) · Advances in Molecular Pathology · doi:10.1016/j.yamp.2021.07.001

Ein holistisches Gesundheitskonzept: Die Evolutionäre Medizin

Sperling, K., Marek, R. M., Rühli, F. J., Bender, N., Flahault, A., & Ganten, D. (2021) · De Gruyter eBooks · doi:10.1515/9783110713336-018

Genome-Wide Sequencing In Clinical Genetic Counseling

Burroughs, B. (2021) · doi:10.15760/honors.1167

Pengembangan Kemahiran Kepramukaan Mahasiswa FIS UNNES Pasca Kursus Pembina Mahir Dasar (KMD)

Mufti, A. Z. (2012)

Diagnostic Yield of Rare Skeletal Dysplasia Conditions in the Radiogenomics Era – A UK ExperiencePreprint

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. (2020) · doi:10.21203/rs.3.rs-96770/v1

La médecine de précision : au carrefour de la biologie moléculaire, des sciences de l’information et des humanités

Gosselin, R., Redin, C. E., Ristorcelli, E., Raisaro, J. L., & Fellay, J. (2020) · JMIG · doi:10.53738/revmed.2020.16.704.1574

Faculty Opinions recommendation of Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.

Robinson, P. N. (2018) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.733602701.793550532

Genomic Approaches for the Diagnosis of Inborn Errors of Metabolism

Stenton, S. L., Mayr, J. A., Wortmann, S. B., & Prokisch, H. (2022) · Springer eBooks · doi:10.1007/978-3-030-67727-5_9

Hybrid Genomics

Al-Shimmari, T. K. (2022) · Health informatics · doi:10.1007/978-3-031-04836-4_12

Genomics screening of neonates

Kobayashi, E. S., & Hobbs, C. A. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-824010-6.00004-6

Response to Grosse and Gudgeon

Lavelle, T. A., Feng, X., Keisler, M., Cohen, J. T., Neumann, P. J., Prichard, D., Schroeder, B. E., Salyakina, D., Espinal, P. S., Weidner, S. B., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.08.031

Taming Large-Scale Genomic Analyses via Sparsified GenomicsPreprint

Alser, M., Eudine, J., & Mutlu, O. (2022) · Research Square · doi:10.21203/rs.3.rs-2277358/v1

Whole Genome Sequencing Will Reduce the Cost of Diagnostic Odyssey

Kang, D.-Y. (., & Terry, S. F. (2022) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2022.0200.persp

Rapid exome sequencing to aid diagnostics in genetic disorders: Implementation and challenges in the Singapore context

Fong, N., Lim, J. Y., Cham, B., Kam, S., Goh, C. Y. J., Wei, H., Tan, Y. M., Law, H. Y., Lim, W. K., Tan, E. S., et al. (2022) · Annals of the Academy of Medicine Singapore · doi:10.47102/annals-acadmedsg.202252

Implementation of Rapid Genome Sequencing for Infants with Congenital Heart DiseasePreprint

Hays, T., Hernan, R., Disco, M., Griffin, E., Goldshtrom, N., Vargas, D., Krishnamurthy, G., Rehman, A. U., Wilson, A. T., Guha, S., et al. (2022) · medRxiv · doi:10.1101/2022.12.16.22283479

Future on a Flashdrive: Timely Considerations for the Imminent Adoption of Whole Genome Sequencing in Pediatric Healthcare

Hohmann, E., King, B., Laroche, R. A. S., Wilkinson, A., & Wilkinson, A. F. (2023) · Journal of Science Policy & Governance · doi:10.38126/jspg210305

Anesthetic Complications in the Neonate: Incidence, Prevention, and Management

Stein, M. L., O’Donnell, R. F., Kleinman, M. E., & Kovatsis, P. G. (2023) · Springer eBooks · doi:10.1007/978-3-031-25358-4_17

The Human Genome and Neonatal Care

Cotten, C. M. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-82823-9.00025-8

Artificial intelligence in medical genetics

Waikel, R. L., Duong, D., & Solomon, B. D. (2023) · Elsevier eBooks · doi:10.1016/b978-0-443-15688-5.00007-3

The Landscape of Clinical Whole Genome Sequencing and the Emergence of Rapid Genetic Diagnosis in Critical Care

Gorzynski, J. E., Goenka, S. D., Ashley, E. A., & Jain, M. (2023) · Advances in Molecular Pathology · doi:10.1016/j.yamp.2023.08.002

Clinical and Genetic Characteristics of 111 Children Diagnosed by Gene Testing in the Pediatric Digestive Department: A Single-Center Retrospective AnalysisPreprint

Li, J., Sun, M., & Guo, J. (2023) · doi:10.22541/au.169528144.41982110/v1

A mouse model of ZTTK syndrome reveals indispensable SON functions in organ development and hematopoiesisPreprint

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. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.11.19.567732

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

Zhang, R., Cui, X., Zhang, Y., Ma, H., Gao, J., Zhang, Y., Shu, J., Cai, C., & Liu, Y. (2023) · Research Square · doi:10.21203/rs.3.rs-3598324/v1

Los estudios de exoma completo (WES o WholeExome Sequencing) son coste-efectivos en pacientes con discapacidad intelectual, enfermedades monogénicas o malformaciones congénitas múltiples

El Consorcio, S. I. D. E. (2022) · Economía de la Salud · doi:10.61679/1701001010

An Overview of GeneticTesting

Chung, W. K., Schacht, J. P., & Kavuş, H. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-69415-5.00077-1

Additional file 1 of The clinical utility of rapid exome sequencing in a consanguineous population

Monies, D., Goljan, E., Assoum, M., Al-Breacan, M., BinHumaid, F. S., Subhani, S., Boureggah, A., Hashem, M., Abdulwahab, F., Abuyousef, O., et al. (2023) · Figshare · doi:10.6084/m9.figshare.23557934

ATEITIES SKAITMENINĖS SVEIKATOS PRIEŽIŪROS TECHNOLOGIJOS: SISTEMINĖ LITERATŪROS APŽVALGA

Janušonis, V. (2024) · Health Sciences · doi:10.35988/sm-hs.2024.145

Meta-analysis of genome and predicted exome sequencing diagnostic yieldPreprint

Bergant, G., Maver, A., & Peterlin, B. (2024) · Research Square · doi:10.21203/rs.3.rs-4465187/v1

MPSE provides fast, flexible, and efficient means to identify newborns who will benefit from whole genome sequencing within the first 48 hours of NICU admissionPreprint

Peterson, B. D., Juarez, E. F., Moore, B., Hernandez, E. J., Frise, E., Li, J., Lussier, Y. A., Tristani‐Firouzi, M., Reese, M. G., Jenkins, S. M., et al. (2024) · medRxiv · doi:10.1101/2024.11.05.24316150

X‐Linked Lymphoproliferative Disease Associated Hemophagocytic Lymphohistiocytosis Diagnosed Expeditiously With Ultra‐Rapid Whole‐Genome Sequencing

Greenmyer, J. R., Thompson, W. S., Ridder, P., Guidugli, L., Joshi, A. Y., Schimmenti, L. A., Kohorst, M. A., & Ferdjallah, A. (2024) · Pediatric Blood & Cancer · doi:10.1002/pbc.31463

High diagnostic rate of whole genome sequencing in primary ciliary dyskinesiaPreprint

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., Partnership, S. G., Santoyo‐López, J., et al. (2024) · medRxiv · doi:10.1101/2024.02.21.24302995

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