| A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing EA Koppes, BK Redel, MA Johnson, KJ Skvorak, L Ghaloul-Gonzalez, ... Jci Insight 5 (20), 2020 | 34 | 2020 |
| Mitochondrial dysfunction associated with TANGO2 deficiency P Heiman, AW Mohsen, A Karunanidhi, C St Croix, S Watkins, E Koppes, ... Scientific Reports 12 (1), 3045, 2022 | 29 | 2022 |
| Loss of inherited genomic imprints in mice leads to severe disruption in placental lipid metabolism KP Himes, A Young, E Koppes, D Stolz, Y Barak, Y Sadovsky, JR Chaillet Placenta 36 (4), 389-396, 2015 | 22 | 2015 |
| Generalized disruption of inherited genomic imprints leads to wide-ranging placental defects and dysregulated fetal growth KP Himes, E Koppes, JR Chaillet Developmental biology 373 (1), 72-82, 2013 | 22 | 2013 |
| Partial loss of genomic imprinting reveals important roles for Kcnq1 and Peg10 imprinted domains in placental development E Koppes, KP Himes, JR Chaillet PloS one 10 (8), e0135202, 2015 | 19 | 2015 |
| Conditional depletion of Fus in oligodendrocytes leads to motor hyperactivity and increased myelin deposition associated with Akt and cholesterol activation KM Guzman, LE Brink, G Rodriguez‐Bey, RJ Bodnar, L Kuang, B Xing, ... Glia 68 (10), 2040-2056, 2020 | 15 | 2020 |
| Klf14 is an imprinted transcription factor that regulates placental growth E Koppes, B Shaffer, E Sadovsky, K Himes, Y Barak, Y Sadovsky, ... Placenta 88, 61-67, 2019 | 12 | 2019 |
| Differential methylation of syncytin-1 and 2 distinguishes fetal growth restriction from physiologic small for gestational age SP Makaroun, KP Himes American Journal of Perinatology Reports 8 (01), e18-e24, 2018 | 12 | 2018 |
| Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening OM D'Annibale, EA Koppes, M Sethuraman, K Bloom, AW Mohsen, ... Journal of inherited metabolic disease 45 (3), 529-540, 2022 | 9 | 2022 |
| Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis OM D'Annibale, EA Koppes, AN Alodaib, C Kochersperger, A Karunanidhi, ... Molecular genetics and metabolism 134 (1-2), 29-36, 2021 | 7 | 2021 |
| A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing. JCI Insight 5 (20) EA Koppes, BK Redel, MA Johnson, KJ Skvorak, L Ghaloul-Gonzalez, ... | 5 | 2020 |
| The role of genomic imprints in placental biology EA Koppes University of Pittsburgh, 2016 | 3 | 2016 |
| Insulin secretion deficits in a Prader-Willi syndrome β-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones EA Koppes, MA Johnson, JJ Moresco, P Luppi, DW Lewis, DB Stolz, ... PLoS genetics 19 (4), e1010710, 2023 | 1 | 2023 |
| Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency EV Neto, M Wang, AJ Szuminsky, L Ferraro, E Koppes, Y Wang, ... JCI insight, 2024 | | 2024 |
| O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency M Sethuraman, E Koppes, K Scola, K Bloom, AW Mohsen, J Vockley Genetics in Medicine Open 2, 2024 | | 2024 |
| CHARACTERIZATION OF VARIANTS OF UNCERTAIN SIGNIFICANCE IN VERY LONG-CHAIN ACYL-COA DEHYDROGENASE IDENTIFIED THROUGH NEWBORN SCREENING O Dannibale, M Sethuraman, E Koppes, AW Mohsen, J Vockley Molecular Genetics and Metabolism 135 (4), 253-254, 2022 | | 2022 |
| OP003: Characterization of variants of uncertain significance in very long-chain acyl-CoA dehyrogenase identified through newborn screening O D'Annibale, M Sethuraman, E Koppes, AW Mohsen, J Vockley Genetics in Medicine 24 (3), S334-S335, 2022 | | 2022 |
| Altered Lipid Accumulation in Mouse Placentas Following Generalized Disruption of Genomic Imprints KP Himes, M Campbell, E Koppes, R Chaillet REPRODUCTIVE SCIENCES 20 (S 3), 288A-288A, 2013 | | 2013 |
Yoel SadovskyProfessor of Obstetrics and Gynecology, Microbiology and Molecular Genetics在 mwri.magee.edu 的电子邮件经过验证
Yoel SadovskyProfessor of Obstetrics and Gynecology, Microbiology and Molecular Genetics在 mwri.magee.edu 的电子邮件经过验证