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Jonathan Edward LoTempio

Title(s)Assistant Professor, Pediatrics
SchoolSchool of Medicine
Address1001 Health Sciences Road
Irvine CA 92697-3950
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Genome sequencing reveals the impact of pseudoexons in rare genetic disease. Genet Med. 2025 Nov; 27(11):101574. Pitsava G, Hawley M, Auriga L, de Dios I, Ko A, Marmolejos S, Almalvez M, Chen I, Scozzaro K, Zhao J, Barrick R, Ah Mew N, Fusaro VA, LoTempio J, Taylor M, Mestroni L, Graw S, Milewicz D, Guo D, Murdock DR, Bujakowska KM, UCI-GREGoR Consortium, Xiao C, Délot EC, Berger SI, Vilain E. PMID: 40927908; PMCID: PMC12501780.
      View in: PubMed   Mentions:    Fields:    
    2. Genome sequencing reveals the impact of pseudoexons in rare genetic disease. medRxiv. 2025 Jun 18. Pitsava G, Hawley M, Auriga L, de Dios I, Ko A, Marmolejos S, Almalvez M, Chen I, Scozzaro K, Zhao J, Barrick R, Mew NA, Fusaro VA, LoTempio J, Taylor M, Mestroni L, Graw S, Milewicz D, Guo D, Murdock DR, Bujakowska KM, UCI-GREGoR Consortium, Xiao C, Délot EC, Berger SI, Vilain E. PMID: 39763557; PMCID: PMC11703292.
      View in: PubMed   Mentions:
    3. Ethics choices during the Human Genome Project reflected their policy world, not ours. Cell Genom. 2025 May 14; 5(5):100841. LoTempio JE, Donohue CR, Moreno JD, Cook-Deegan R. PMID: 40373741; PMCID: PMC12143320.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Identification of de novo variants from parent-proband duos via long-read sequencing. medRxiv. 2025 Feb 26. Boukas L, Délot EC, Pitsava G, Lambert C, Fanslow C, Baybayan P, Belhadj S, Losic B, Harting J, Bluske K, LoTempio J, Al-Kouatly H, Karam R, Rowell W, Xiao C, Vilain E, Berger SI. PMID: 40061346; PMCID: PMC11888490.
      View in: PubMed   Mentions:
    5. Overcoming challenges associated with broad sharing of human genomic data. Nat Genet. 2025 Feb; 57(2):287-294. LoTempio JE, Moreno JD. PMID: 39843657; PMCID: PMC11849138.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    6. GREGoR: Accelerating Genomics for Rare Diseases. ArXiv. 2024 Dec 18. Dawood M, Heavner B, Wheeler MM, Ungar RA, LoTempio J, Wiel L, Berger S, Bernstein JA, Chong JX, Délot EC, Eichler EE, Gibbs RA, Lupski JR, Shojaie A, Talkowski ME, Wagner AH, Wei CL, Wellington C, Wheeler MT, GREGoR Partner Members, Carvalho CMB, Gifford CA, May S, Miller DE, Rehm HL, Sedlazeck FJ, Vilain E, O'Donnell-Luria A, Posey JE, Chadwick LH, Bamshad MJ, Montgomery SB, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium. PMID: 39764392; PMCID: PMC11702807.
      View in: PubMed   Mentions:
    7. Using a chat-based informed consent tool in large-scale genomic research. J Am Med Inform Assoc. 2024 01 18; 31(2):472-478. Savage SK, LoTempio J, Smith ED, Andrew EH, Mas G, Kahn-Kirby AH, Délot E, Cohen AJ, Pitsava G, Nussbaum R, Fusaro VA, Berger S, Vilain E. PMID: 37665746; PMCID: PMC10797258.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    8. Benchmarking long-read genome sequence alignment tools for human genomics applications. PeerJ. 2023; 11:e16515. LoTempio J, Delot E, Vilain E. PMID: 38130927; PMCID: PMC10734412.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    9. Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis. Clin Genet. 2023 09; 104(3):377-383. Berger SI, Pitsava G, Cohen AJ, Délot EC, LoTempio J, Andrew EH, Martin GM, Marmolejos S, Albert J, Meltzer B, Fraser J, Regier DS, Kahn-Kirby AH, Smith E, Knoblach S, Ko A, Fusaro VA, Vilain E. PMID: 37194472; PMCID: PMC10524710.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    10. "Development and Implementation of Novel Chatbot-based Genomic Research Consent". bioRxiv. 2023 Jan 24. Smith ED, Savage SK, Andrew EH, Martin GM, Kahn-Kirby AH, LoTempio J, Délot E, Cohen AJ, Pitsava G, Berger S, Fusaro VA, Vilain E. PMID: 36747692; PMCID: PMC9900780.
      View in: PubMed   Mentions:
    11. Multisystem Inflammatory Syndrome of Children: Subphenotypes, Risk Factors, Biomarkers, Cytokine Profiles, and Viral Sequencing. J Pediatr. 2021 Oct; 237:125-135.e18. DeBiasi RL, Harahsheh AS, Srinivasalu H, Krishnan A, Sharron MP, Parikh K, Smith K, Bell M, Michael D, Delaney M, Campos J, Vilain E, LoTempio J, Kline JN, Ronis T, Majumdar S, Sadler E, Conway SR, Berul CI, Sule S, Lahoz R, Ansusinha E, Pershad J, Bundy V, Wells E, Bost JE, Wessel D, Children's National Hospital MIS-C Taskforce. PMID: 34181987.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansCellsPHPublic Health
    12. Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane. Front Physiol. 2020; 11:542950. Haskins N, Bhuvanendran S, Anselmi C, Gams A, Kanholm T, Kocher KM, LoTempio J, Krohmaly KI, Sohai D, Stearrett N, Bonner E, Tuchman M, Morizono H, Jaiswal JK, Caldovic L. PMID: 33551825; PMCID: PMC7860981.
      View in: PubMed   Mentions: 13  
    13. Paucity and Disparity of Publicly Available Sex-Disaggregated Data for the COVID-19 Epidemic Hamper Evidence-Based Decision-Making. Arch Sex Behav. 2021 02; 50(2):407-426. Kocher K, Delot-Vilain A, Spencer D, LoTempio J, Délot EC. PMID: 33398705; PMCID: PMC7781558.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCellsPHPublic Health
    14. Baseline human gut microbiota profile in healthy people and standard reporting template. PLoS One. 2019; 14(9):e0206484. King CH, Desai H, Sylvetsky AC, LoTempio J, Ayanyan S, Carrie J, Crandall KA, Fochtman BC, Gasparyan L, Gulzar N, Howell P, Issa N, Krampis K, Mishra L, Morizono H, Pisegna JR, Rao S, Ren Y, Simonyan V, Smith K, VedBrat S, Yao MD, Mazumder R. PMID: 31509535; PMCID: PMC6738582.
      View in: PubMed   Mentions: 111     Fields:    Translation:Humans
    15. An assessment of US microbiome research. Nat Microbiol. 2016 Jan 11; 1:15015. Stulberg E, Fravel D, Proctor LM, Murray DM, LoTempio J, Chrisey L, Garland J, Goodwin K, Graber J, Harris MC, Jackson S, Mishkind M, Porterfield DM, Records A. PMID: 27571759.
      View in: PubMed   Mentions: 57     Fields:    Translation:Humans
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