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Jonathan LoTempio

university of pennsylvania

9H指数
33论文数
688被引数
收录论文 8
发表时间
Identification of de novo variants from parent-proband duos via long-read sequencing通过长读长测序识别来自父母-先证者二联体的新生变异
err2026-03-05
err0
errOAAI
errLeandros Boukas; Emmanuèle C. Délot; Georgia Pitsava; Christine Lambert; Cairbre Fanslow; Primo Baybayan; Sami Belhadj; Bojan Losic; John Harting; Krista Bluske; Jonathan LoTempio; Huda B. Al-Kouatly; Rachid Karam; William J. Rowell; Changrui Xiao; Eric Vilain; Seth I. Berger
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Impact of the 23andMe bankruptcy on preserving the public benefit of scientific data23andMe破产对保护科学数据公共利益的影响
err2025-12-04
err0
PREAI
errJonathan E. LoTempio; Christopher R. Donohue; Jonathan D. Moreno; Ana Santos Rutschman; Joshua Sarnoff; Michael S. Sinha; Thomas Stoeger; Jorge L. Contreras
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GREGoR: accelerating genomics for rare diseasesGREGoR:加速罕见病基因组学研究
errNature
IF48.5
err2025-11-12
err0
PREAI
errMoez Dawood; Ben Heavner; Marsha M. Wheeler; Rachel A. Ungar; Jonathan LoTempio; Laurens Wiel; Seth Berger; Jonathan A. Bernstein; Jessica X. Chong; Emmanuèle C. Délot; Evan E. Eichler; James R. Lupski; Ali Shojaie; Michael E. Talkowski; Alex H. Wagner; Chia-Lin Wei; Christopher Wellington; Matthew T. Wheeler; Claudia M. B. Carvalho; Richard A. Gibbs; Casey A. Gifford; Susanne May; Danny E. Miller; Heidi L. Rehm; Kaitlin E. Samocha; Fritz J. Sedlazeck; Eric Vilain; Anne O’Donnell-Luria; Jennifer E. Posey; Lisa H. Chadwick; Michael J. Bamshad; Stephen B. Montgomery
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Genome sequencing reveals the impact of pseudoexons in rare genetic disease基因组测序揭示了假外显子对罕见遗传病的影响
err2025-09-06
err0
errOAAI
errGeorgia Pitsava; Megan Hawley; Light Auriga; Ivan de Dios; Arthur Ko; Sofia Marmolejos; Miguel Almalvez; Ingrid Chen; Kaylee Scozzaro; Jianhua Zhao; Rebekah Barrick; Nicholas Ah Mew; Vincent A. Fusaro; Jonathan LoTempio; Matthew Taylor; Luisa Mestroni; Sharon Graw; Dianna Milewicz; Dongchuan Guo; David R. Murdock; Kinga M. Bujakowska; Changrui Xiao; Emmanuèle C. Délot; Seth I. Berger; Eric Vilain
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Multisystem Inflammatory Syndrome of Children: Subphenotypes, Risk Factors, Biomarkers, Cytokine Profiles, and Viral Sequencing
err2021-10-01
err40
PREAI
errDeBiasi, Roberta L.; Harahsheh, Ashraf S.; Srinivasalu, Hemalatha; Krishnan, Anita; Sharron, Matthew P.; Parikh, Kavita; Smith, Karen; Bell, Michael; Michael, Drew; Delaney, Meghan; Campos, Joseph; Vilain, Eric; LoTempio, Jonathan; Kline, Jaclyn N.; Ronis, Tova; Majumdar, Suvankar; Sadler, Eleanor; Conway, Susan R.; Berul, Charles, I; Sule, Sangeeta; Lahoz, Rebeca; Ansusinha, Emily; Pershad, Jay; Bundy, Vanessa; Wells, Elizabeth; Bost, James E.; Wessel, David
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Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane
err2021-01-21
err17
errOAAI
errHaskins, Nantaporn; Bhuvanendran, Shivaprasad; Anselmi, Claudio; Gams, Anna; Kanholm, Tomas; Kocher, Kristen M.; LoTempio, Jonathan; Krohmaly, Kylie I.; Sohai, Danielle; Stearrett, Nathaniel; Bonner, Erin; Tuchman, Mendel; Morizono, Hiroki; Jaiswal, Jyoti K.; Caldovic, Ljubica
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A review of 10 years of human microbiome research activities at the US National Institutes of Health, Fiscal Years 2007-2016
err2019-02-26
err140
errOAAI
errProctor, Lita; LoTempio, Jonathan; Marquitz, Aron; Daschner, Phil; Xi, Dan; Flores, Roberto; Brown, Liliana; Ranallo, Ryan; Maruvada, Padma; Regan, Karen; Lunsford, R. Dwayne; Reddy, Michael; Caler, Lis
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