{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T16:25:17Z","timestamp":1786983917648,"version":"build-2736575974"},"reference-count":131,"publisher":"Elsevier","isbn-type":[{"value":"9780443428517","type":"print"}],"license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100013019","name":"Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013019","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026]]},"DOI":"10.1016\/bs.mcb.2025.03.018","type":"book-chapter","created":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T05:09:16Z","timestamp":1744175356000},"page":"109-139","source":"Crossref","is-referenced-by-count":4,"title":["Bioinformatics and AI\/ML approaches using multi-omics data to accelerate diagnosis and delivery of precision care for patients with rare diseases"],"prefix":"10.1016","author":[{"given":"Kritika","family":"Singh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Usman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saman","family":"Zeeshan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naveena","family":"Yanamala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Nichols","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikram","family":"Bhise","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabahat","family":"Bokhari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Partho P.","family":"Sengupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeeshan","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/bs.mcb.2025.03.018_bib1","doi-asserted-by":"crossref","DOI":"10.3389\/fphar.2021.744532","volume":"12","author":"Aartsma-Rus","year":"2021","journal-title":"Frontiers in Pharmacology"},{"issue":"7","key":"10.1016\/bs.mcb.2025.03.018_bib2","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2022-062126","article-title":"Criteria to define rare diseases and orphan drugs: A systematic review protocol","volume":"12","author":"Abozaid","year":"2022","journal-title":"BMJ Open"},{"issue":"6","key":"10.1016\/bs.mcb.2025.03.018_bib3","doi-asserted-by":"crossref","first-page":"4732","DOI":"10.3390\/ijerph20064732","article-title":"Enhancing equitable access to rare disease diagnosis and treatment around the world: A review of evidence, policies, and challenges","volume":"20","author":"Adachi","year":"2023","journal-title":"International Journal of Environmental Research and Public Health"},{"key":"10.1016\/bs.mcb.2025.03.018_bib4","series-title":"StatPearls","article-title":"Cri Du chat syndrome","author":"Ajitkumar","year":"2022"},{"issue":"19","key":"10.1016\/bs.mcb.2025.03.018_bib5","doi-asserted-by":"crossref","first-page":"14873","DOI":"10.3390\/ijms241914873","article-title":"Spinal muscular atrophy: An evolving scenario through new perspectives in diagnosis and advances in therapies","volume":"24","author":"Angilletta","year":"2023","journal-title":"International Journal of Molecular Sciences"},{"issue":"3","key":"10.1016\/bs.mcb.2025.03.018_bib6","article-title":"Applications of artificial intelligence in clinical laboratory genomics","volume":"193","author":"Aradhya","year":"2023","journal-title":"American Journal of Medical"},{"issue":"5","key":"10.1016\/bs.mcb.2025.03.018_bib7","doi-asserted-by":"crossref","first-page":"519","DOI":"10.3390\/mi12050519","article-title":"Techniques for the detection of sickle cell disease: A review","volume":"12","author":"Arishi","year":"2021","journal-title":"Micromachines"},{"key":"10.1016\/bs.mcb.2025.03.018_bib8","doi-asserted-by":"crossref","first-page":"1064073","DOI":"10.3389\/fimmu.2022.1064073","article-title":"Patient genetics shape the autoimmune response in the blistering skin disease pemphigus vulgaris","volume":"13","author":"Baker","year":"2023","journal-title":"Frontiers in Immunology"},{"issue":"6","key":"10.1016\/bs.mcb.2025.03.018_bib9","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1038\/s41592-023-01886-z","article-title":"Machine learning in rare disease","volume":"20","author":"Banerjee","year":"2023","journal-title":"Nature Methods"},{"key":"10.1016\/bs.mcb.2025.03.018_bib10","series-title":"StatPearls","article-title":"Hemolytic uremic syndrome","author":"Bhandari","year":"2023"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib11","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1186\/s13023-022-02343-4","article-title":"Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases","volume":"17","author":"Bogart","year":"2022","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"12","key":"10.1016\/bs.mcb.2025.03.018_bib12","doi-asserted-by":"crossref","first-page":"978","DOI":"10.3390\/genes10120978","article-title":"Artificial intelligence (AI) in rare diseases: Is the future brighter?","volume":"10","author":"Brasil","year":"2019","journal-title":"Genes"},{"key":"10.1016\/bs.mcb.2025.03.018_bib13","series-title":"StatPearls","article-title":"Spinal muscle atrophy","author":"Burr","year":"2023"},{"key":"10.1016\/bs.mcb.2025.03.018_bib14","doi-asserted-by":"crossref","DOI":"10.1016\/j.crbiot.2023.100133","article-title":"CRISPR-based gene editing of non-homologous end joining factors biases DNA repair pathway choice toward single-strand annealing in Aedes aegypti","volume":"5","author":"Chae","year":"2023","journal-title":"Current Research in Biotechnology"},{"key":"10.1016\/bs.mcb.2025.03.018_bib15","doi-asserted-by":"crossref","DOI":"10.1016\/j.clinsp.2022.100045","article-title":"Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome","volume":"77","author":"Chehimi","year":"2022","journal-title":"Clinics (Sao Paulo, Brazil)"},{"key":"10.1016\/bs.mcb.2025.03.018_bib16","doi-asserted-by":"crossref","first-page":"1304342","DOI":"10.3389\/fphar.2023.1304342","article-title":"Antisense oligonucleotides: A novel frontier in pharmacological strategy","volume":"14","author":"Collotta","year":"2023","journal-title":"Frontiers in Pharmacology"},{"key":"10.1016\/bs.mcb.2025.03.018_bib17","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2021.667336","article-title":"Next-generation sequencing identifies extended HLA class I and II haplotypes associated with early-onset and late-onset myasthenia gravis in Italian, Norwegian, and Swedish populations","volume":"12","author":"Creary","year":"2021","journal-title":"Frontiers in Immunology"},{"key":"10.1016\/bs.mcb.2025.03.018_bib18","series-title":"GeneReviews\u00ae","article-title":"Angelman syndrome","author":"Dagli","year":"1998"},{"issue":"12","key":"10.1016\/bs.mcb.2025.03.018_bib19","article-title":"IntelliGenes: A novel machine learning pipeline for biomarker discovery and predictive analysis using multi-genomic profiles","volume":"39","author":"DeGroat","year":"2023","journal-title":"Bioinformatics (Oxford, England)"},{"issue":"3","key":"10.1016\/bs.mcb.2025.03.018_bib20","doi-asserted-by":"crossref","first-page":"156","DOI":"10.5582\/irdr.2018.01065","article-title":"National information system for rare diseases with an approach to data architecture: A systematic review","volume":"7","author":"Derayeh","year":"2018","journal-title":"Intractable & Rare Diseases Research"},{"issue":"3-4","key":"10.1016\/bs.mcb.2025.03.018_bib21","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1080\/21678421.2023.2285443","article-title":"Predicting amyotrophic lateral sclerosis (ALS) progression with machine learning","volume":"25","author":"Din Abdul Jabbar","year":"2024","journal-title":"Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration"},{"key":"10.1016\/bs.mcb.2025.03.018_bib22","doi-asserted-by":"crossref","first-page":"1152696","DOI":"10.3389\/fneur.2023.1152696","article-title":"Clinical and genetic analysis of Christianson syndrome caused by variant of SLC9A6: Case report and literature review","volume":"14","author":"Dong","year":"2023","journal-title":"Frontiers in Neurology"},{"issue":"14","key":"10.1016\/bs.mcb.2025.03.018_bib23","doi-asserted-by":"crossref","first-page":"865","DOI":"10.21037\/atm-19-4510","article-title":"GLA missense and promoter variants co-segregating in a Chinese family with Fabry disease","volume":"8","author":"Dong","year":"2020","journal-title":"Annals of Translational Medicine"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib24","doi-asserted-by":"crossref","first-page":"F24","DOI":"10.1136\/archdischild-2017-313929","article-title":"Non-invasive prenatal testing of pregnancies at risk for phenylketonuria. Archives of disease in childhood","volume":"104","author":"Duan","year":"2019","journal-title":"Fetal and Neonatal Edition"},{"key":"10.1016\/bs.mcb.2025.03.018_bib25","doi-asserted-by":"crossref","DOI":"10.1016\/j.blre.2023.101102","article-title":"Artificial intelligence in sickle disease","volume":"61","author":"Elsabagh","year":"2023","journal-title":"Blood Reviews"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib26","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/s40246-023-00481-9","article-title":"Allelic phenotype prediction of phenylketonuria based on the machine learning method","volume":"17","author":"Fang","year":"2023","journal-title":"Human Genomics"},{"issue":"13","key":"10.1016\/bs.mcb.2025.03.018_bib27","doi-asserted-by":"crossref","first-page":"2066","DOI":"10.3390\/cells11132066","article-title":"Gene therapy in amyotrophic lateral sclerosis","volume":"11","author":"Fang","year":"2022","journal-title":"Cells"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib28","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1186\/s13023-023-02790-7","article-title":"A comprehensive study of the rare diseases and conditions targeted by orphan drug designations and approvals over the forty years of the Orphan Drug Act","volume":"18","author":"Fermaglich","year":"2023","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"6","key":"10.1016\/bs.mcb.2025.03.018_bib29","doi-asserted-by":"crossref","first-page":"2525","DOI":"10.1111\/bcp.14925","article-title":"Therapeutic RNA interference: A novel approach to the treatment of primary hyperoxaluria","volume":"88","author":"Forbes","year":"2022","journal-title":"British Journal of Clinical Pharmacology"},{"issue":"4","key":"10.1016\/bs.mcb.2025.03.018_bib30","doi-asserted-by":"crossref","first-page":"238","DOI":"10.5582\/irdr.2021.01104","article-title":"Off-label medication use in rare pediatric diseases in the United States","volume":"10","author":"Fung","year":"2021","journal-title":"Intractable & Rare Diseases Research"},{"key":"10.1016\/bs.mcb.2025.03.018_bib31","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/1750-1172-5-11","article-title":"Beta-thalassemia","volume":"5","author":"Galanello","year":"2010","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"10.1016\/bs.mcb.2025.03.018_bib32","doi-asserted-by":"crossref","DOI":"10.1016\/j.nbd.2019.104490","article-title":"A Christianson syndrome-linked deletion mutation (\u0394287ES288) in SLC9A6 impairs hippocampal neuronal plasticity","volume":"130","author":"Gao","year":"2019","journal-title":"Neurobiology of Disease"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib33","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s40246-022-00397-w","article-title":"Identification of phenylketonuria patient genotypes using single-gene full-length sequencing","volume":"16","author":"Gao","year":"2022","journal-title":"Human Genomics"},{"issue":"9","key":"10.1016\/bs.mcb.2025.03.018_bib34","doi-asserted-by":"crossref","first-page":"2021","DOI":"10.1002\/ajmg.a.61720","article-title":"Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning","volume":"182","author":"Gomez","year":"2020","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib35","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1111\/cge.13558","article-title":"Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance","volume":"96","author":"Goncharova","year":"2019","journal-title":"Clinical Genetics"},{"issue":"10","key":"10.1016\/bs.mcb.2025.03.018_bib36","doi-asserted-by":"crossref","first-page":"2711","DOI":"10.1111\/apa.15974","article-title":"Progress, challenges and global approaches to rare diseases","volume":"110","author":"Groft","year":"2021","journal-title":"Acta Paediatrica (Oslo, Norway: 1992)"},{"issue":"2","key":"10.1016\/bs.mcb.2025.03.018_bib37","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/d41573-019-00180-y","article-title":"How many rare diseases are there?","volume":"19","author":"Haendel","year":"2020","journal-title":"Nature Reviews. Drug Discovery"},{"key":"10.1016\/bs.mcb.2025.03.018_bib38","doi-asserted-by":"crossref","DOI":"10.1016\/j.ssmqr.2023.100240","article-title":"Democratising or disrupting diagnosis? Ethical issues raised by the use of AI tools for rare disease diagnosis","volume":"3","author":"Hallowell","year":"2023","journal-title":"SSM. Qualitative Research in Health"},{"key":"10.1016\/bs.mcb.2025.03.018_bib39","doi-asserted-by":"crossref","DOI":"10.3389\/fphar.2022.971541","article-title":"Research advances in treatment methods and drug development for rare diseases","volume":"13","author":"Han","year":"2022","journal-title":"Frontiers in Pharmacology"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib40","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.cpet.2021.09.009","article-title":"Artificial intelligence in medical imaging and its impact on the rare disease community: Threats, challenges and opportunities","volume":"17","author":"Hasani","year":"2022","journal-title":"PET Clinics"},{"issue":"3","key":"10.1016\/bs.mcb.2025.03.018_bib41","doi-asserted-by":"crossref","first-page":"232","DOI":"10.2174\/1389202922666210219111810","article-title":"Identification of two novel mutations in PKHD1 gene from two families with polycystic kidney disease by whole exome sequencing","volume":"22","author":"Heidari","year":"2021","journal-title":"Current Genomics"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib42","doi-asserted-by":"crossref","first-page":"19386","DOI":"10.1038\/s41598-023-46332-4","article-title":"Expression of a large coding sequence: Gene therapy vectors for Ataxia Telangiectasia","volume":"13","author":"Hirch","year":"2023","journal-title":"Scientific Reports"},{"key":"10.1016\/bs.mcb.2025.03.018_bib43","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.omtm.2021.06.013","article-title":"Gene therapy using an ortholog of human fragile X mental retardation protein partially rescues behavioral abnormalities and EEG activity","volume":"22","author":"Hooper","year":"2021","journal-title":"Molecular Therapy. Methods & Clinical Development"},{"key":"10.1016\/bs.mcb.2025.03.018_bib44","series-title":"GeneReviews\u00ae","article-title":"Gaucher disease","author":"Hughes","year":"2000"},{"issue":"6","key":"10.1016\/bs.mcb.2025.03.018_bib45","doi-asserted-by":"crossref","DOI":"10.1093\/bib\/bbae515","article-title":"Thinking points for effective batch correction on biomedical data","volume":"25","author":"Hui","year":"2024","journal-title":"Briefings in Bioinformatics"},{"key":"10.1016\/bs.mcb.2025.03.018_bib46","series-title":"GeneReviews\u00ae","article-title":"FMR1 disorders","author":"Hunter","year":"1998"},{"key":"10.1016\/bs.mcb.2025.03.018_bib47","series-title":"StatPearls","article-title":"Pemphigus vulgaris","author":"Ingold","year":"2024"},{"issue":"6","key":"10.1016\/bs.mcb.2025.03.018_bib48","doi-asserted-by":"crossref","first-page":"753","DOI":"10.18553\/jmcp.2021.27.6.753","article-title":"An analysis of member retention patterns for adult rare disease cohorts to support evaluating multiyear payment arrangements for novel therapies","volume":"27","author":"Jackson","year":"2021","journal-title":"Journal of Managed Care & Specialty Pharmacy"},{"key":"10.1016\/bs.mcb.2025.03.018_bib49","doi-asserted-by":"crossref","DOI":"10.1016\/j.coisb.2021.100409","article-title":"Metabolomics in diagnostics of inborn metabolic disorders","volume":"29","author":"Jans","year":"2022","journal-title":"Current Opinion in Systems Biology"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib50","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1186\/s13023-021-02150-3","article-title":"A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm","volume":"16","author":"Jefferies","year":"2021","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib51","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1186\/s13023-018-0936-x","article-title":"From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research","volume":"13","author":"Kaufmann","year":"2018","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib52","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1186\/s13023-020-01376-x","article-title":"A scoping review and proposed workflow for multi-omic rare disease research","volume":"15","author":"Kerr","year":"2020","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"5","key":"10.1016\/bs.mcb.2025.03.018_bib53","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1097\/MNM.0000000000001822","article-title":"Machine learning diagnosis of active Juvenile Idiopathic Arthritis on blood pool [99M Tc] Tc-MDP scintigraphy images","volume":"45","author":"Kian Ara","year":"2024","journal-title":"Nuclear Medicine Communications"},{"issue":"3","key":"10.1016\/bs.mcb.2025.03.018_bib54","article-title":"Acute intermittent Porphyria\u2019s symptoms and management: A narrative review","volume":"15","author":"Kizilaslan","year":"2023","journal-title":"Cureus"},{"key":"10.1016\/bs.mcb.2025.03.018_bib55","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/B978-0-12-820140-4.00007-7","article-title":"Transcriptomics in rare diseases","volume":"11","author":"Kousi","year":"2021","journal-title":"Genomics of Rare Diseases"},{"key":"10.1016\/bs.mcb.2025.03.018_bib56","series-title":"StatPearls","article-title":"Alzheimer disease","author":"Kumar","year":"2024"},{"key":"10.1016\/bs.mcb.2025.03.018_bib57","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1007\/s00439-024-02678-x","article-title":"Advances in long-read single-cell transcriptomics","volume":"143","author":"Kumari","year":"2024","journal-title":"Human Genetics"},{"issue":"10419","key":"10.1016\/bs.mcb.2025.03.018_bib58","doi-asserted-by":"crossref","first-page":"2265","DOI":"10.1016\/S0140-6736(23)02797-6","article-title":"The promise of genetic therapies in sickle cell disease","volume":"402","author":"Lancet","year":"2023","journal-title":"Lancet (London, England)"},{"issue":"10419","key":"10.1016\/bs.mcb.2025.03.018_bib59","doi-asserted-by":"crossref","first-page":"2265","DOI":"10.1016\/S0140-6736(23)02797-6","article-title":"The promise of genetic therapies in sickle cell disease","volume":"402","author":"Lancet","year":"2023","journal-title":"Lancet (London, England)"},{"issue":"5","key":"10.1016\/bs.mcb.2025.03.018_bib60","doi-asserted-by":"crossref","DOI":"10.1016\/j.isci.2020.101123","article-title":"Rare genetic diseases: Nature\u2019s experiments on human development","volume":"23","author":"Lee","year":"2020","journal-title":"iScience"},{"key":"10.1016\/bs.mcb.2025.03.018_bib61","series-title":"Gene therapy for sickle cell disease","first-page":"542","author":"Leonard","year":"2023"},{"key":"10.1016\/bs.mcb.2025.03.018_bib62","doi-asserted-by":"crossref","first-page":"7431","DOI":"10.12659\/MSM.911295","article-title":"Gene mutation analysis and prenatal diagnosis of the ornithine transcarbamylase (OTC) gene in two families with ornithine transcarbamylase deficiency","volume":"24","author":"Li","year":"2018","journal-title":"Medical Science Monitor: International Medical Journal of Experimental and Clinical Research"},{"key":"10.1016\/bs.mcb.2025.03.018_bib63","series-title":"GeneReviews\u00ae","article-title":"Ornithine transcarbamylase deficiency","author":"Lichter-Konecki","year":"2013"},{"issue":"22","key":"10.1016\/bs.mcb.2025.03.018_bib64","doi-asserted-by":"crossref","first-page":"15174","DOI":"10.3390\/ijerph192215174","article-title":"Health policies for rare disease patients: A scoping review","volume":"19","author":"Lopes-J\u00fanior","year":"2022","journal-title":"International Journal of Environmental Research and Public Health"},{"key":"10.1016\/bs.mcb.2025.03.018_bib65","doi-asserted-by":"crossref","DOI":"10.1016\/j.scr.2021.102435","article-title":"Human iPSC lines from a Christianson syndrome patient with NHE6 W523X mutation, a biologically-related control, and CRISPR\/Cas9 gene-corrected isogenic controls","volume":"54","author":"Ma","year":"2021","journal-title":"Stem Cell Research"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib66","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/s43556-020-00009-w","article-title":"Profiling chromatin regulatory landscape: Insights into the development of ChIP-seq and ATAC-seq","volume":"1","author":"Ma","year":"2020","journal-title":"Molecular Biomedicine"},{"key":"10.1016\/bs.mcb.2025.03.018_bib67","series-title":"StatPearls","article-title":"Sickle cell anemia","author":"Mangla","year":"2023"},{"key":"10.1016\/bs.mcb.2025.03.018_bib68","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2021.814174","article-title":"Adeno-associated virus (AAV)-mediated gene therapy for duchenne muscular dystrophy: The issue of transgene persistence","volume":"12","author":"Manini","year":"2022","journal-title":"Frontiers in Neurology"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib69","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s13073-022-01026-w","article-title":"A guide for the diagnosis of rare and undiagnosed disease: Beyond the exome","volume":"14","author":"Marwaha","year":"2022","journal-title":"Genome Medicine"},{"key":"10.1016\/bs.mcb.2025.03.018_bib70","series-title":"GeneReviews\u00ae","article-title":"Fabry disease","author":"Mehta","year":"2002"},{"key":"10.1016\/bs.mcb.2025.03.018_bib71","doi-asserted-by":"crossref","DOI":"10.1016\/j.cca.2023.117329","article-title":"Predicting thalassemia using deep neural networks based on red blood cell indices","volume":"543","author":"Mo","year":"2023","journal-title":"Clinica Chimica Acta; International Journal of Clinical Chemistry"},{"issue":"2","key":"10.1016\/bs.mcb.2025.03.018_bib72","article-title":"Toward transcriptomics as a primary tool for rare disease investigation","volume":"8","author":"Montgomery","year":"2022","journal-title":"Cold Spring Harbor Molecular Case Studies"},{"issue":"7","key":"10.1016\/bs.mcb.2025.03.018_bib73","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1038\/s41436-021-01144-7","article-title":"Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample","volume":"23","author":"Movaghar","year":"2021","journal-title":"Genetics in Medicine: Official Journal of the American College of Medical Genetics"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib74","doi-asserted-by":"crossref","DOI":"10.1093\/biomethods\/bpae040","article-title":"IntelliGenes: Interactive and user-friendly multimodal AI\/ML application for biomarker discovery and predictive medicine","volume":"9","author":"Narayanan","year":"2024","journal-title":"Biology Methods & Protocols"},{"issue":"4","key":"10.1016\/bs.mcb.2025.03.018_bib75","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s40259-017-0234-5","article-title":"Adeno-associated virus (AAV) as a vector for gene therapy","volume":"31","author":"Naso","year":"2017","journal-title":"BioDrugs: Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy"},{"issue":"9","key":"10.1016\/bs.mcb.2025.03.018_bib76","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1016\/j.nmd.2017.06.009","article-title":"Exome sequencing identifies targets in the treatment-resistant ophthalmoplegic subphenotype of myasthenia gravis","volume":"27","author":"Nel","year":"2017","journal-title":"Neuromuscular Disorders: NMD"},{"key":"10.1016\/bs.mcb.2025.03.018_bib77","doi-asserted-by":"crossref","first-page":"136","DOI":"10.3389\/fgene.2019.00136","article-title":"Using whole genome sequencing in an African Subphenotype of myasthenia gravis to generate a pathogenetic hypothesis","volume":"10","author":"Nel","year":"2019","journal-title":"Frontiers in Genetics"},{"issue":"4","key":"10.1016\/bs.mcb.2025.03.018_bib78","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1007\/s13311-022-01239-2","article-title":"Improving gene therapy for angelman syndrome with secreted human UBE3A","volume":"19","author":"Nenninger","year":"2022","journal-title":"Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics"},{"issue":"2","key":"10.1016\/bs.mcb.2025.03.018_bib79","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/s41431-019-0508-0","article-title":"Estimating cumulative point prevalence of rare diseases: Analysis of the Orphanet database","volume":"28","author":"Nguengang Wakap","year":"2020","journal-title":"European Journal of Human Genetics: EJHG"},{"issue":"4","key":"10.1016\/bs.mcb.2025.03.018_bib80","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1111\/j.1582-4934.2010.01038.x","article-title":"Gene therapy in Alzheimer\u2019s disease - potential for disease modification","volume":"14","author":"Nilsson","year":"2010","journal-title":"Journal of Cellular and Molecular Medicine"},{"key":"10.1016\/bs.mcb.2025.03.018_bib81","series-title":"GeneReviews\u00ae","article-title":"Genetic atypical hemolytic-uremic syndrome","author":"Noris","year":"2007"},{"key":"10.1016\/bs.mcb.2025.03.018_bib82","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2021.795258","article-title":"Automatic classification and severity estimation of ataxia from finger tapping videos","volume":"12","author":"Nunes","year":"2022","journal-title":"Frontiers in Neurology"},{"issue":"3","key":"10.1016\/bs.mcb.2025.03.018_bib83","article-title":"Gene therapy for spinal muscular atrophy (SMA): A review of current challenges and safety considerations for onasemnogene abeparvovec (Zolgensma)","volume":"15","author":"Ogbonmide","year":"2023","journal-title":"Cureus"},{"issue":"3","key":"10.1016\/bs.mcb.2025.03.018_bib84","doi-asserted-by":"crossref","first-page":"440","DOI":"10.2174\/1570159X20666220601124117","article-title":"Fabry disease: Current and novel therapeutic strategies. A narrative review","volume":"21","author":"Palaiodimou","year":"2023","journal-title":"Current Neuropharmacology"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib85","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1101\/gr.252601.119","article-title":"Identification of pathogenic variant enriched regions across genes and gene families","volume":"30","author":"P\u00e9rez-Palma","year":"2020","journal-title":"Genome Research"},{"key":"10.1016\/bs.mcb.2025.03.018_bib86","series-title":"StatPearls","article-title":"Common variable immunodeficiency","author":"Pescador Ruschel","year":"2023"},{"issue":"9","key":"10.1016\/bs.mcb.2025.03.018_bib87","doi-asserted-by":"crossref","first-page":"4433","DOI":"10.1097\/MS9.0000000000000930","article-title":"Juvenile multiple sclerosis: Addressing epidemiology, diagnosis, therapeutic, and prognostic updates along with cognitive dysfunction and quality of life","volume":"85","author":"Prajjwal","year":"2023","journal-title":"Annals of Medicine and Surgery (2012)"},{"key":"10.1016\/bs.mcb.2025.03.018_bib88","first-page":"1509","article-title":"Whole-genome sequencing reveals new Alzheimer\u2019s disease-associated rare variants in loci related to synaptic function and neuronal development","volume":"17","author":"Prokopenko","year":"2021"},{"issue":"12","key":"10.1016\/bs.mcb.2025.03.018_bib89","doi-asserted-by":"crossref","first-page":"3515","DOI":"10.1016\/j.ymthe.2022.09.015","article-title":"AAV vectors: The Rubik\u2019s cube of human gene therapy","volume":"30","author":"Pupo","year":"2022","journal-title":"Molecular Therapy: the Journal of the American Society of Gene Therapy"},{"issue":"2","key":"10.1016\/bs.mcb.2025.03.018_bib90","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1097\/JS9.0000000000000164","article-title":"Myasthenia gravis in current status: Epidemiology, types, etiology, pathophysiology, symptoms, diagnostic tests, prevention, treatment, and complications - correspondence","volume":"109","author":"Rahman","year":"2023","journal-title":"International Journal of Surgery (London, England)"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib91","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1038\/s41591-022-02045-1","article-title":"Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy","volume":"29","author":"Ricotti","year":"2023","journal-title":"Nature Medicine"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib92","doi-asserted-by":"crossref","first-page":"6408","DOI":"10.1038\/s41598-021-85354-8","article-title":"Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma","volume":"11","author":"Roberts","year":"2021","journal-title":"Scientific Reports"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib93","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/s13023-019-1040-6","article-title":"Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study","volume":"14","author":"Ronicke","year":"2019","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"10.1016\/bs.mcb.2025.03.018_bib94","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1016\/j.csbj.2024.02.018","article-title":"Differential gene expression analysis pipelines and bioinformatic tools for the identification of specific biomarkers: A review","volume":"23","author":"Rosati","year":"2024","journal-title":"Computational and Structural Biotechnology Journal"},{"key":"10.1016\/bs.mcb.2025.03.018_bib95","series-title":"StatPearls","article-title":"Hurler syndrome","author":"Sakuru","year":"2023"},{"issue":"8","key":"10.1016\/bs.mcb.2025.03.018_bib96","doi-asserted-by":"crossref","first-page":"2227","DOI":"10.3390\/biomedicines11082227","article-title":"Genetic therapy approaches for ornithine transcarbamylase deficiency","volume":"11","author":"Seker Yilmaz","year":"2023","journal-title":"Biomedicines"},{"issue":"3","key":"10.1016\/bs.mcb.2025.03.018_bib97","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1007\/s00277-023-05086-9","article-title":"Whole-exome sequencing identifies FANC heterozygous germline mutation as an adverse factor for immunosuppressive therapy in Chinese aplastic anemia patients aged 40 or younger: A single-center retrospective study","volume":"102","author":"Shen","year":"2023","journal-title":"Annals of Hematology"},{"key":"10.1016\/bs.mcb.2025.03.018_bib98","series-title":"GeneReviews\u00ae","article-title":"Amyotrophic lateral sclerosis overview","author":"Siddique","year":"2001"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib99","doi-asserted-by":"crossref","first-page":"52","DOI":"10.2991\/chi.d.190321.002","article-title":"Idiopathic aplastic anemia: An update","volume":"1","author":"Solomou","year":"2019","journal-title":"Clinical Hematology International"},{"issue":"4","key":"10.1016\/bs.mcb.2025.03.018_bib100","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1212\/WNL.0b013e3182604395","article-title":"Machine learning algorithms to classify spinal muscular atrophy subtypes","volume":"79","author":"Srivastava","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/bs.mcb.2025.03.018_bib101","series-title":"StatPearls","article-title":"Gaucher disease","author":"Stone","year":"2023"},{"key":"10.1016\/bs.mcb.2025.03.018_bib102","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1186\/s13039-019-0462-0","article-title":"Prenatal diagnosis of cri-du-chat syndrome by SNP array: Report of twelve cases and review of the literature","volume":"12","author":"Su","year":"2019","journal-title":"Molecular Cytogenetics"},{"key":"10.1016\/bs.mcb.2025.03.018_bib103","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1038\/s41576-019-0127-1","article-title":"Benefits and limitations of genome-wide association studies","volume":"20","author":"Tam","year":"2019","journal-title":"Nature Reviews. Genetics"},{"issue":"3","key":"10.1016\/bs.mcb.2025.03.018_bib104","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/s43587-024-00573-8","article-title":"Leveraging electronic health records and knowledge networks for Alzheimer\u2019s disease prediction and sex-specific biological insights","volume":"4","author":"Tang","year":"2024","journal-title":"Nature Aging"},{"key":"10.1016\/bs.mcb.2025.03.018_bib105","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/j.omtm.2019.12.014","article-title":"Long-term metabolic correction of phenylketonuria by AAV-delivered phenylalanine amino lyase","volume":"19","author":"Tao","year":"2020","journal-title":"Molecular Therapy. Methods & Clinical Development"},{"issue":"4","key":"10.1016\/bs.mcb.2025.03.018_bib106","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1111\/joim.13655","article-title":"Precision medicine in rare diseases: What is next?","volume":"294","author":"Tesi","year":"2023","journal-title":"Journal of Internal Medicine"},{"key":"10.1016\/bs.mcb.2025.03.018_bib107","series-title":"StatPearls","article-title":"Juvenile idiopathic arthritis","author":"Thatayatikom","year":"2023"},{"issue":"10","key":"10.1016\/bs.mcb.2025.03.018_bib108","article-title":"An artificial intelligence approach to the assessment of abnormal lid position. Plastic and reconstructive surgery","volume":"8","author":"Thomas","year":"2020","journal-title":"Global Open"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib109","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1186\/s13023-021-02061-3","article-title":"The IDeaS initiative: Pilot study to assess the impact of rare diseases on patients and healthcare systems","volume":"16","author":"Tisdale","year":"2021","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"10.1016\/bs.mcb.2025.03.018_bib110","article-title":"The role of whole exome sequencing in the UBE3A point mutation of angelman syndrome: A case report","volume":"73","author":"Triono","year":"2021","journal-title":"Annals of Medicine and Surgery (2012)"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib111","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/s13024-022-00593-1","article-title":"Advances in sequencing technologies for amyotrophic lateral sclerosis research","volume":"18","author":"Udine","year":"2023","journal-title":"Molecular Neurodegeneration"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib112","doi-asserted-by":"crossref","DOI":"10.1038\/s43586-021-00056-9","article-title":"Genome-wide association studies","volume":"59","author":"Uffelmann","year":"2021","journal-title":"Nature Reviews Methods Primers"},{"issue":"23","key":"10.1016\/bs.mcb.2025.03.018_bib113","doi-asserted-by":"crossref","first-page":"1996","DOI":"10.1212\/01.wnl.0000436934.40034eb","article-title":"Risk genes associated with pediatric-onset MS but not with monophasic acquired CNS demyelination","volume":"81","author":"van Pelt","year":"2013","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib114","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1038\/s41572-021-00267-0","article-title":"Phenylketonuria. Nature reviews","volume":"7","author":"van Spronsen","year":"2021","journal-title":"Disease Primers"},{"key":"10.1016\/bs.mcb.2025.03.018_bib115","series-title":"StatPearls","article-title":"Duchenne muscular dystrophy","author":"Venugopal","year":"2023"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib116","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.ajhg.2011.11.029","article-title":"Five years of GWAS discovery","volume":"90","author":"Visscher","year":"2012","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/bs.mcb.2025.03.018_bib117","article-title":"A deep learning model for the automatic recognition of aplastic anemia, myelodysplastic syndromes, and acute myeloid leukemia based on bone marrow smear","volume":"12","author":"Wang","year":"2022","journal-title":"Frontiers in Oncology"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib118","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1038\/s41392-024-01780-w","article-title":"Adeno-associated virus as a delivery vector for gene therapy of human diseases","volume":"9","author":"Wang","year":"2024","journal-title":"Signal Transduction and Targeted Therapy"},{"issue":"6","key":"10.1016\/bs.mcb.2025.03.018_bib119","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1016\/j.fmre.2022.09.002","article-title":"Rare and undiagnosed diseases: From disease-causing gene identification to mechanism elucidation","volume":"2","author":"Wang","year":"2022","journal-title":"Fundamental Research"},{"key":"10.1016\/bs.mcb.2025.03.018_bib120","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1146\/annurev-genom-101722-103045","article-title":"Long-read DNA sequencing: Recent advances and remaining challenges","volume":"24","author":"Warburton","year":"2023","journal-title":"Annual Review of Genomics and Human Genetics"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib121","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1186\/s13023-023-02868-2","article-title":"Development of a rare disease algorithm to identify persons at risk of Gaucher disease using electronic health records in the United States","volume":"18","author":"Wilson","year":"2023","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"11","key":"10.1016\/bs.mcb.2025.03.018_bib122","doi-asserted-by":"crossref","first-page":"2106","DOI":"10.1111\/cts.13619","article-title":"Artificial intelligence in rare disease diagnosis and treatment","volume":"16","author":"Wojtara","year":"2023","journal-title":"Clinical and Translational Science"},{"issue":"7833","key":"10.1016\/bs.mcb.2025.03.018_bib123","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1038\/s41586-020-2835-2","article-title":"Cas9 gene therapy for angelman syndrome traps Ube3a-ATS long non-coding RNA","volume":"587","author":"Wolter","year":"2020","journal-title":"Nature"},{"key":"10.1016\/bs.mcb.2025.03.018_bib124","doi-asserted-by":"crossref","DOI":"10.3389\/fmolb.2022.965089","article-title":"Delivering gene therapy for mucopolysaccharide diseases","volume":"9","author":"Wood","year":"2022","journal-title":"Frontiers in Molecular Biosciences"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib125","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1186\/s40246-023-00520-5","article-title":"Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China","volume":"17","author":"Yang","year":"2023","journal-title":"Human Genomics"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib126","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/mt.2009.250","article-title":"AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function","volume":"18","author":"Yasuda","year":"2010","journal-title":"Molecular Therapy: the Journal of the American Society of Gene Therapy"},{"issue":"11","key":"10.1016\/bs.mcb.2025.03.018_bib127","doi-asserted-by":"crossref","first-page":"5538","DOI":"10.3390\/ijms22115538","article-title":"Accurate molecular diagnosis of gaucher disease using clinical exome sequencing as a first-tier test","volume":"22","author":"Zampieri","year":"2021","journal-title":"International Journal of Molecular Sciences"},{"key":"10.1016\/bs.mcb.2025.03.018_bib128","doi-asserted-by":"crossref","DOI":"10.1016\/j.jpba.2020.113509","article-title":"Integration of GC-MS and LC-MS for untargeted metabolomics profiling","volume":"190","author":"Zeki","year":"2020","journal-title":"Journal of Pharmaceutical and Biomedical Analysis"},{"issue":"13","key":"10.1016\/bs.mcb.2025.03.018_bib129","doi-asserted-by":"crossref","first-page":"10619","DOI":"10.3390\/ijms241310619","article-title":"Immune cell-related genes in juvenile idiopathic arthritis identified using transcriptomic and single-cell sequencing data","volume":"24","author":"Zhang","year":"2023","journal-title":"International Journal of Molecular Sciences"},{"issue":"9","key":"10.1016\/bs.mcb.2025.03.018_bib130","doi-asserted-by":"crossref","first-page":"R137","DOI":"10.1186\/gb-2008-9-9-r137","article-title":"Model-based analysis of ChIP-Seq (MACS)","volume":"9","author":"Zhang","year":"2008","journal-title":"Genome Biology"},{"issue":"1","key":"10.1016\/bs.mcb.2025.03.018_bib131","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1058","article-title":"Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree","volume":"8","author":"Zhou","year":"2020","journal-title":"Molecular Genetics & Genomic Medicine"}],"container-title":["Methods in Cell Biology","2D and 3D cellular screening models and AI guided analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091679X25000998?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091679X25000998?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T09:02:31Z","timestamp":1774688551000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091679X25000998"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"ISBN":["9780443428517"],"references-count":131,"URL":"https:\/\/doi.org\/10.1016\/bs.mcb.2025.03.018","relation":{},"ISSN":["0091-679X"],"issn-type":[{"value":"0091-679X","type":"print"}],"subject":[],"published":{"date-parts":[[2026]]}}}