| A comparison of non-integrating reprogramming methods TM Schlaeger, L Daheron, TR Brickler, S Entwisle, K Chan, A Cianci, ... Nature biotechnology 33 (1), 58-63, 2015 | 595 | 2015 |
| Hereditary galactosemia D Demirbas, AI Coelho, ME Rubio-Gozalbo, GT Berry Metabolism 83, 188-196, 2018 | 154 | 2018 |
| The natural history of classic galactosemia: lessons from the GalNet registry ME Rubio-Gozalbo, M Haskovic, AM Bosch, B Burnyte, AI Coelho, ... Orphanet journal of rare diseases 14, 1-11, 2019 | 146 | 2019 |
| KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability GW Abbott, KK Tai, DL Neverisky, A Hansler, Z Hu, TK Roepke, DJ Lerner, ... Science signaling 7 (315), ra22-ra22, 2014 | 75 | 2014 |
| Antioxidant responses of lentil to cold and drought stress HA Öktem, F Eyidoðan, D Demirba, AT Bayraç, MT Öz, E Özgür, F Selçuk, ... Journal of Plant Biochemistry and Biotechnology 17, 15-21, 2008 | 58 | 2008 |
| Development of a fission yeast-based high-throughput screen to identify chemical regulators of cAMP phosphodiesterases FD Ivey, L Wang, D Demirbas, C Allain, CS Hoffman Journal of biomolecular screening 13 (1), 62-71, 2008 | 42 | 2008 |
| New classes of PDE7 inhibitors identified by a fission yeast-based HTS MA Alaamery, AR Wyman, FD Ivey, C Allain, D Demirbas, L Wang, ... Journal of biomolecular screening 15 (4), 359-367, 2010 | 39 | 2010 |
| Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine. D Demirbas, WJ Brucker, GT Berry Pediatric Clinics of North America 65 (2), 337-352, 2018 | 36 | 2018 |
| Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts B Balakrishnan, W Chen, M Tang, X Huang, DD Cakici, A Siddiqi, G Berry, ... Biochemical and biophysical research communications 470 (1), 205-212, 2016 | 35 | 2016 |
| A yeast-based chemical screen identifies a PDE inhibitor that elevates steroidogenesis in mouse Leydig cells via PDE8 and PDE4 inhibition D Demirbas, AR Wyman, M Shimizu-Albergine, O Cakici, JA Beavo, ... PLoS One 8 (8), e71279, 2013 | 35 | 2013 |
| Galactokinase deficiency: lessons from the GalNet registry ME Rubio-Gozalbo, B Derks, AM Das, U Meyer, D Möslinger, ML Couce, ... Genetics in medicine 23 (1), 202-210, 2021 | 32 | 2021 |
| Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion X Huang, JK Bedoyan, D Demirbas, DJ Harris, A Miron, S Edelheit, ... Molecular genetics and metabolism 120 (3), 213-222, 2017 | 31 | 2017 |
| 5, 10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination LH Rodan, W Qi, GS Ducker, D Demirbas, R Laine, E Yang, MA Walker, ... Molecular genetics and metabolism 125 (1-2), 118-126, 2018 | 28 | 2018 |
| The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency D Demirbas, X Huang, V Daesety, S Feenstra, M Haskovic, W Qi, ... Molecular Genetics and Metabolism 126 (4), 368-376, 2019 | 22 | 2019 |
| A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency JK Bedoyan, L Hecht, S Zhang, S Tarrant, A Bergin, D Demirbas, E Yang, ... JIMD reports 48 (1), 26-35, 2019 | 21 | 2019 |
| Use of a Schizosaccharomyces pombe PKA-repressible reporter to study cGMP metabolising phosphodiesterases D Demirbas, O Ceyhan, AR Wyman, FD Ivey, C Allain, L Wang, ... Cellular signalling 23 (3), 594-601, 2011 | 21 | 2011 |
| The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation GT Berry, ED Blume, A Wessel, T Singh, L Hecht, D Marsden, I Sahai, ... JIMD reports 54 (1), 3-8, 2020 | 18 | 2020 |
| A fission yeast-based platform for phosphodiesterase inhibitor HTSs and analyses of phosphodiesterase activity D Demirbas, O Ceyhan, AR Wyman, CS Hoffman Phosphodiesterases as Drug Targets, 135-149, 2011 | 18 | 2011 |
| Arginine does not rescue p. Q188R mutation deleterious effect in classic galactosemia M Haskovic, B Derks, L van der Ploeg, J Trommelen, J Nyakayiru, ... Orphanet Journal of Rare Diseases 13, 1-8, 2018 | 17 | 2018 |
| Transient developmental delays in infants with Duarte-2 variant galactosemia SE Waisbren, C Tran, D Demirbas, CS Gubbels, M Hsiao, V Daesety, ... Molecular Genetics and Metabolism 134 (1-2), 132-138, 2021 | 12 | 2021 |
