| Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document M Biegstraaten, R Arngrímsson, F Barbey, L Boks, F Cecchi, PB Deegan, ... Orphanet journal of rare diseases 10, 1-10, 2015 | 367 | 2015 |
| Ethiopian mitochondrial DNA heritage: tracking gene flow across and around the gate of tears T Kivisild, M Reidla, E Metspalu, A Rosa, A Brehm, E Pennarun, J Parik, ... The American Journal of Human Genetics 75 (5), 752-770, 2004 | 354 | 2004 |
| Consensus clinical management guidelines for Niemann-Pick disease type C T Geberhiwot, A Moro, A Dardis, U Ramaswami, S Sirrs, MP Marfa, ... Orphanet journal of rare diseases 13, 1-19, 2018 | 277 | 2018 |
| Origin and diffusion of mtDNA haplogroup X M Reidla, T Kivisild, E Metspalu, K Kaldma, K Tambets, HV Tolk, J Parik, ... The American Journal of Human Genetics 73 (5), 1178-1190, 2003 | 253 | 2003 |
| Ventricular arrhythmia and sudden cardiac death in Fabry disease: a systematic review of risk factors in clinical practice S Baig, NC Edward, D Kotecha, B Liu, S Nordin, R Kozor, JC Moon, ... EP Europace 20 (FI2), f153-f161, 2018 | 116 | 2018 |
| The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: Effects across tasks and developmental stages. C Romani, L Palermo, A MacDonald, E Limback, SK Hall, T Geberhiwot Neuropsychology 31 (3), 242, 2017 | 107 | 2017 |
| Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature B Schoser, E Fong, T Geberhiwot, D Hughes, JT Kissel, SC Madathil, ... Orphanet journal of rare diseases 12, 1-12, 2017 | 104 | 2017 |
| Cognitive outcomes in early-treated adults with phenylketonuria (PKU): A comprehensive picture across domains. L Palermo, T Geberhiwot, A MacDonald, E Limback, SK Hall, C Romani Neuropsychology 31 (3), 255, 2017 | 92 | 2017 |
| SMPD1 mutation update: database and comprehensive analysis of published and novel variants S Zampieri, M Filocamo, A Pianta, S Lualdi, L Gort, MJ Coll, R Sinnott, ... Human mutation 37 (2), 139-147, 2016 | 90 | 2016 |
| An endothelial laminin isoform, laminin 8 (α4β1γ1), is secreted by blood neutrophils, promotes neutrophil migration and extravasation, and protects neutrophils from apoptosis Z Wondimu, T Geberhiwot, S Ingerpuu, E Juronen, X Xie, L Lindbom, ... Blood 104 (6), 1859-1866, 2004 | 85 | 2004 |
| Laminin-8 (α4β1γ1) is synthesized by lymphoid cells, promotes lymphocyte migration and costimulates T cell proliferation T Geberhiwot, D Assefa, J Kortesmaa, S Ingerpuu, C Pedraza, Z Wondimu, ... Journal of cell science 114 (2), 423-433, 2001 | 85 | 2001 |
| Blood platelets contain and secrete laminin-8 (α4β1γ1) and adhere to laminin-8 via α6β1 integrin T Geberhiwot, S Ingerpuu, C Pedraza, M Neira, U Lehto, I Virtanen, ... Experimental cell research 253 (2), 723-732, 1999 | 79 | 1999 |
| Consensus clinical management guidelines for Alström syndrome N Tahani, P Maffei, H Dollfus, R Paisey, D Valverde, G Milan, JC Han, ... Orphanet journal of rare diseases 15, 1-22, 2020 | 75 | 2020 |
| Cardiac phenotype of prehypertrophic Fabry disease S Nordin, R Kozor, S Baig, A Abdel-Gadir, K Medina-Menacho, S Rosmini, ... Circulation: Cardiovascular Imaging 11 (6), e007168, 2018 | 74 | 2018 |
| Monocytic cells synthesize, adhere to, and migrate on laminin-8 (α4β1γ1) C Pedraza, T Geberhiwot, S Ingerpuu, D Assefa, Z Wondimu, J Kortesmaa, ... The Journal of Immunology 165 (10), 5831-5838, 2000 | 74 | 2000 |
| The topology of the maternal lineages of the Anatolian and Trans-Caucasus populations and the peopling of Europe: some preliminary considerations H Demirtas, T Geberhiwot, SS Papiha | 64 | 2000 |
| Myocardial storage, inflammation, and cardiac phenotype in Fabry disease after one year of enzyme replacement therapy S Nordin, R Kozor, R Vijapurapu, JB Augusto, KD Knott, G Captur, ... Circulation: Cardiovascular Imaging 12 (12), e009430, 2019 | 62 | 2019 |
| Myocardial edema, myocyte injury, and disease severity in Fabry disease JB Augusto, S Nordin, R Vijapurapu, S Baig, H Bulluck, S Castelletti, ... Circulation: Cardiovascular Imaging 13 (3), e010171, 2020 | 58 | 2020 |
| The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage JB Augusto, N Johner, D Shah, S Nordin, KD Knott, S Rosmini, C Lau, ... European Heart Journal-Cardiovascular Imaging 22 (7), 790-799, 2021 | 57 | 2021 |
| Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease R Vijapurapu, S Nordin, S Baig, B Liu, S Rosmini, J Augusto, M Tchan, ... Heart 105 (6), 470-476, 2019 | 57 | 2019 |
