| MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ... The American Journal of Human Genetics 100 (6), 843-853, 2017 | 179 | 2017 |
| The undiagnosed diseases network: accelerating discovery about health and disease RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ... The American Journal of Human Genetics 100 (2), 185-192, 2017 | 159 | 2017 |
| The role of polyamines in the regulation of macrophage polarization and function YL Latour, AP Gobert, KT Wilson Amino Acids 52 (2), 151-160, 2020 | 118 | 2020 |
| A syndromic neurodevelopmental disorder caused by de novo variants in EBF3 HT Chao, M Davids, E Burke, JG Pappas, JA Rosenfeld, AJ McCarty, ... The American Journal of Human Genetics 100 (1), 128-137, 2017 | 115 | 2017 |
| De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype V Shashi, LDM Pena, K Kim, B Burton, M Hempel, K Schoch, ... The American Journal of Human Genetics 99 (4), 991-999, 2016 | 69 | 2016 |
| Human GLB1 knockout cerebral organoids: a model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis YL Latour, R Yoon, SE Thomas, C Grant, C Li, M Sena-Esteves, ... Molecular Genetics and Metabolism Reports 21, 100513, 2019 | 49 | 2019 |
| A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay K Schoch, L Meng, S Szelinger, DR Bearden, A Stray-Pedersen, OL Busk, ... The American Journal of Human Genetics 100 (2), 343-351, 2017 | 48 | 2017 |
| Protective role of spermidine in colitis and colon carcinogenesis AP Gobert, YL Latour, M Asim, DP Barry, MM Allaman, JL Finley, ... Gastroenterology 162 (3), 813-827. e8, 2022 | 46 | 2022 |
| Novel biomarkers of human GM1 gangliosidosis reflect the clinical efficacy of gene therapy in a feline model HL Gray-Edwards, DS Regier, JL Shirley, AN Randle, N Salibi, ... Molecular Therapy 25 (4), 892-903, 2017 | 39 | 2017 |
| MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis DS Regier, HJ Kwon, J Johnston, G Golas, S Yang, E Wiggs, Y Latour, ... American journal of medical genetics Part A 170 (3), 634-644, 2016 | 38 | 2016 |
| Hypusination orchestrates the antimicrobial response of macrophages AP Gobert, JL Finley, YL Latour, M Asim, TM Smith, TG Verriere, DP Barry, ... Cell reports 33 (11), 2020 | 28 | 2020 |
| Bacterial pathogens hijack the innate immune response by activation of the reverse transsulfuration pathway AP Gobert, YL Latour, M Asim, JL Finley, TG Verriere, DP Barry, GL Milne, ... MBio 10 (5), 10.1128/mbio. 02174-19, 2019 | 24 | 2019 |
| Dicarbonyl electrophiles mediate inflammation-induced gastrointestinal carcinogenesis AP Gobert, O Boutaud, M Asim, IA Zagol-Ikapitte, AG Delgado, YL Latour, ... Gastroenterology 160 (4), 1256-1268. e9, 2021 | 23 | 2021 |
| Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms TA Cassini, L Duncan, LC Rives, JH Newman, JA Phillips, ME Koziura, ... Molecular Genetics & Genomic Medicine 7 (6), e00676, 2019 | 19 | 2019 |
| Interleukin-23 receptor signaling impairs the stability and function of colonic regulatory T cells J Jacobse, RE Brown, J Li, JM Pilat, L Pham, SP Short, CT Peek, ... Cell reports 42 (2), 2023 | 14 | 2023 |
| Cystathionine γ-lyase exacerbates Helicobacter pylori immunopathogenesis by promoting macrophage metabolic remodeling and activation YL Latour, JC Sierra, JL Finley, M Asim, DP Barry, MM Allaman, TM Smith, ... JCI insight 7 (12), 2022 | 11 | 2022 |
| Intestinal inflammation promotes MDL-1+ osteoclast precursor expansion to trigger osteoclastogenesis and bone loss CT Peek, CA Ford, KR Eichelberger, J Jacobse, TP Torres, D Maseda, ... Cellular and Molecular Gastroenterology and Hepatology 14 (4), 731-750, 2022 | 6 | 2022 |
| Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased 1H NMR-Linked Metabolomics Strategy BC Percival, YL Latour, CJ Tifft, M Grootveld Cells 10 (3), 572, 2021 | 5 | 2021 |
| Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients ER Nicoli, M Huebecker, ST Han, K Garcia, J Munasinghe, M Lizak, ... Molecular genetics and metabolism 138 (2), 107508, 2023 | 2 | 2023 |
| Ornithine decarboxylase in gastric epithelial cells promotes the immunopathogenesis of Helicobacter pylori infection YL Latour, JC Sierra, KM McNamara, TM Smith, PB Luis, C Schneider, ... The Journal of Immunology 209 (4), 796-805, 2022 | 2 | 2022 |
