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Page 1
Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.
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. Haskins N, et al. Among authors: lotempio j. Front Physiol. 2021 Jan 21;11:542950. doi: 10.3389/fphys.2020.542950. eCollection 2020. Front Physiol. 2021. PMID: 33551825 Free PMC article.
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
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. Berger SI, et al. Among authors: lotempio j. Clin Genet. 2023 Sep;104(3):377-383. doi: 10.1111/cge.14360. Epub 2023 May 17. Clin Genet. 2023. PMID: 37194472 Free PMC article.
Using a chat-based informed consent tool in large-scale genomic research.
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. Savage SK, et al. Among authors: lotempio j. J Am Med Inform Assoc. 2024 Jan 18;31(2):472-478. doi: 10.1093/jamia/ocad181. J Am Med Inform Assoc. 2024. PMID: 37665746 Free PMC article.
Multisystem Inflammatory Syndrome of Children: Subphenotypes, Risk Factors, Biomarkers, Cytokine Profiles, and Viral Sequencing.
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. DeBiasi RL, et al. Among authors: lotempio j. J Pediatr. 2021 Oct;237:125-135.e18. doi: 10.1016/j.jpeds.2021.06.002. Epub 2021 Jun 25. J Pediatr. 2021. PMID: 34181987
Baseline human gut microbiota profile in healthy people and standard reporting template.
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. King CH, et al. Among authors: lotempio j. PLoS One. 2019 Sep 11;14(9):e0206484. doi: 10.1371/journal.pone.0206484. eCollection 2019. PLoS One. 2019. PMID: 31509535 Free PMC article.
An assessment of US microbiome research.
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. Stulberg E, et al. Among authors: lotempio j. Nat Microbiol. 2016 Jan 11;1:15015. doi: 10.1038/nmicrobiol.2015.15. Nat Microbiol. 2016. PMID: 27571759
GREGoR: Accelerating Genomics for Rare Diseases.
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, Members GP, 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, Diseases GRTETGOR, Consortium. Dawood M, et al. Among authors: lotempio j. ArXiv [Preprint]. 2024 Dec 18:arXiv:2412.14338v1. ArXiv. 2024. PMID: 39764392 Free PMC article. Preprint.
Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease.
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. Pitsava G, et al. Among authors: lotempio j. medRxiv [Preprint]. 2024 Dec 26:2024.12.21.24318325. doi: 10.1101/2024.12.21.24318325. medRxiv. 2024. PMID: 39763557 Free PMC article. Preprint.
14 results