| Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance SA Tishkoff, R Varkonyi, N Cahinhinan, S Abbes, G Argyropoulos, ... Science 293 (5529), 455-462, 2001 | 734 | 2001 |
| Evidence for balancing selection from nucleotide sequence analyses of human G6PD BC Verrelli, JH McDonald, G Argyropoulos, G Destro-Bisol, A Froment, ... The American Journal of Human Genetics 71 (5), 1112-1128, 2002 | 171 | 2002 |
| Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy KA Kleopa, A Drousiotou, E Mavrikiou, A Ormiston, T Kyriakides Human molecular genetics 15 (10), 1623-1628, 2006 | 109 | 2006 |
| Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus A Drousiotou, P Ioannou, T Georgiou, E Mavrikiou, G Christopoulos, ... Genetic testing 2 (1), 55-60, 1998 | 85 | 1998 |
| Identifying non–Duchenne muscular dystrophy–positive and false negative results in prior Duchenne muscular dystrophy newborn screening programs: a review MA Gatheridge, JM Kwon, JM Mendell, G Scheuerbrandt, SJ Moat, ... JAMA neurology 73 (1), 111-116, 2016 | 67 | 2016 |
| Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches A Drousiotou, I DiMeo, R Mineri, T Georgiou, G Stylianidou, V Tiranti Clinical genetics 79 (4), 385-390, 2011 | 46 | 2011 |
| Molecular characterization of G6PD deficiency in Cyprus A Drousiotou, EH Touma, N Andreou, J Loiselet, M Angastiniotis, ... Blood Cells, Molecules, and Diseases 33 (1), 25-30, 2004 | 42 | 2004 |
| Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis A Gururaj, L Sztriha, J Hertecant, JG Johansen, T Georgiou, Y Campos, ... Journal of child neurology 20 (1), 57-60, 2005 | 34 | 2005 |
| Mouse Stbd1 is N-myristoylated and affects ER–mitochondria association and mitochondrial morphology A Demetriadou, J Morales-Sanfrutos, M Nearchou, O Baba, K Kyriacou, ... Journal of cell science 130 (5), 903-915, 2017 | 32 | 2017 |
| Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community A Drousiotou, G Stylianidou, V Anastasiadou, G Christopoulos, ... Human genetics 107, 12-17, 2000 | 30 | 2000 |
| The Arg482His mutation in the β-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village T Georgiou, G Stylianidou, V Anastasiadou, A Caciotti, Y Campos, ... Genetic Testing 9 (2), 126-132, 2005 | 28 | 2005 |
| Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis. B Clark, C Shooter, F Smith, D Brawand, L Steedman, M Oakley, ... British journal of haematology 180 (1), 2018 | 25 | 2018 |
| The cypriot and Iranian national mutation frequency databases M Kleanthous, PC Patsalis, A Drousiotou, M Motazacker, K Christodoulou, ... Human mutation 27 (6), 598-599, 2006 | 22 | 2006 |
| Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1‐gangliosidosis T Georgiou, A Drousiotou, Y Campos, A Caciotti, L Sztriha, A Gururaj, ... Human mutation 24 (6), 536-537, 2004 | 21 | 2004 |
| Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter S Batzios, G Tal, AT DiStasio, Y Peng, C Charalambous, P Nicolaides, ... Human molecular genetics 31 (24), 4121-4130, 2022 | 18 | 2022 |
| Stbd1 promotes glycogen clustering during endoplasmic reticulum stress and supports survival of mouse myoblasts AA Lytridou, A Demetriadou, M Christou, L Potamiti, ... Journal of cell science 133 (20), jcs244855, 2020 | 18 | 2020 |
| Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus Y Hara, P Ioannou, A Drousiotou, G Stylianidou, V Anastasiadou, ... Human genetics 94, 136-140, 1994 | 17 | 1994 |
| Dystrophinopathy presenting as congenital muscular dystrophy T Kyriakides, G Gabriel, A Drousiotou, M Meznanic-Petrusa, L Middleton Neuromuscular Disorders 4 (4), 387-392, 1994 | 17 | 1994 |
| When the balance tips: dysregulation of mitochondrial dynamics as a culprit in disease S Kyriakoudi, A Drousiotou, PP Petrou International Journal of Molecular Sciences 22 (9), 4617, 2021 | 16 | 2021 |
| A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease A Malekkou, I Sevastou, G Mavrikiou, T Georgiou, L Vilageliu, M Moraitou, ... Molecular Genetics & Genomic Medicine 8 (3), e1090, 2020 | 16 | 2020 |
