| Glycolytic enzymes localize to synapses under energy stress to support synaptic function SR Jang, JC Nelson, EG Bend, L Rodríguez-Laureano, FG Tueros, ... Neuron 90 (2), 278-291, 2016 | 258 | 2016 |
| Diagnostic utility of genome-wide DNA methylation testing in genetically unsolved individuals with suspected hereditary conditions E Aref-Eshghi, EG Bend, S Colaiacovo, M Caudle, R Chakrabarti, ... The American Journal of Human Genetics 104 (4), 685-700, 2019 | 162 | 2019 |
| Syntaxin N-terminal peptide motif is an initiation factor for the assembly of the SNARE–Sec1/Munc18 membrane fusion complex SS Rathore, EG Bend, H Yu, M Hammarlund, EM Jorgensen, J Shen Proceedings of the National Academy of Sciences 107 (52), 22399-22406, 2010 | 150 | 2010 |
| Native plant regeneration and introduction of non-natives following post-fire rehabilitation with straw mulch and barley seeding R Kruse, E Bend, P Bierzychudek Forest Ecology and Management 196 (2-3), 299-310, 2004 | 129 | 2004 |
| Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ... Human Genetics and Genomics Advances 3 (1), 2022 | 123 | 2022 |
| BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes E Aref-Eshghi, EG Bend, RL Hood, LC Schenkel, DA Carere, ... Nature communications 9 (1), 4885, 2018 | 114 | 2018 |
| Axons degenerate in the absence of mitochondria in C. elegans RL Rawson, L Yam, RM Weimer, EG Bend, E Hartwieg, HR Horvitz, ... Current Biology 24 (7), 760-765, 2014 | 98 | 2014 |
| Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome EG Bend, E Aref-Eshghi, DB Everman, RC Rogers, SS Cathey, EJ Prijoles, ... Clinical epigenetics 11, 1-17, 2019 | 90 | 2019 |
| Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders MA Levy, R Relator, H McConkey, E Pranckeviciene, J Kerkhof, ... Human mutation 43 (11), 1609-1628, 2022 | 44 | 2022 |
| NALCN channelopathies: distinguishing gain-of-function and loss-of-function mutations EG Bend, Y Si, DA Stevenson, P Bayrak-Toydemir, TM Newcomb, ... Neurology 87 (11), 1131-1139, 2016 | 44 | 2016 |
| MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis CCY Mak, D Doherty, AE Lin, N Vegas, MT Cho, G Viot, C Dimartino, ... Brain 143 (1), 55-68, 2020 | 43 | 2020 |
| Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p. Gly12Val mutation EG Bend, RJ Louie, RE Stevenson Clinical Dysmorphology 28 (2), 71-73, 2019 | 7 | 2019 |
| ARF1-related disorder: phenotypic and molecular spectrum JM de Sainte Agathe, B Pode-Shakked, S Naudion, V Michaud, B Arveiler, ... Journal of Medical Genetics 60 (10), 999-1005, 2023 | 5 | 2023 |
| PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation BT Truong, LC Shull, E Lencer, EG Bend, M Field, EE Blue, MJ Bamshad, ... Disease Models & Mechanisms 16 (4), dmm049977, 2023 | 5 | 2023 |
| Reactions with dye free radicals reveal weak redox properties of drugs BS Marinov, EG Bend, JJ Abramson Photochemistry and photobiology 82 (6), 1566-1571, 2006 | 2 | 2006 |
| P21. 024. D Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders M Levy, R Relator, H McConkey, E Pranckeviciene, J Kerkhof, ... European Journal of Human Genetics 31 (S1), 657-658, 2023 | | 2023 |
| Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders M Levy, R Relator, H McConkey, E Pranckeviciene, J Kerkhof, ... European Journal of Human Genetics 31, 657-658, 2023 | | 2023 |
| ADNP SYNDROME HAS A UNIQUE GENOMIC DNA METHYLATION SIGNATURE THAT SUGGESTS PACSIN1 MAY CONTRIBUTE TO THE DISEASE MECHANISM EG Bend, E Aref-Eshghi, J Norris, DB Everman, RC Rogers, S Cathey, ... AMERICAN JOURNAL OF MEDICAL GENETICS PART A 179 (4), 702-703, 2019 | | 2019 |
| De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features CT Gordon, KC Leung, CCY Mak, D Doherty, A Lin, N Vegas, M Cho, ... European Human Genetics Conference, 2019, 2019 | | 2019 |
| Evaluation of a Single-tube, Long-read, Two-mode PCR Technology that Reports the Categorical Range of DMPK CTG Expansions and Resolves up to 2000 Repeats in Myotonic Dystrophy … B Holl, J Cooley, E Bend, J Wisotsky, J Lee JOURNAL OF MOLECULAR DIAGNOSTICS 20 (6), 912-912, 2018 | | 2018 |
Erik M. JorgensenDepartment of Biology, University of Utah在 biology.utah.edu 的电子邮件经过验证
