| Subgroup-specific structural variation across 1,000 medulloblastoma genomes PA Northcott, DJH Shih, J Peacock, L Garzia, A Sorana Morrissy, ... Nature 488 (7409), 49-56, 2012 | 995 | 2012 |
| Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 805 | 2021 |
| Guidelines for the diagnosis and management of hereditary spherocytosis–2011 update PHB Bolton‐Maggs, JC Langer, A Iolascon, P Tittensor, MJ King British journal of haematology 156 (1), 37-49, 2012 | 494 | 2012 |
| MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single … M Seri, A Pecci, F Di Bari, R Cusano, M Savino, E Panza, A Nigro, P Noris, ... Medicine 82 (3), 203-215, 2003 | 415 | 2003 |
| Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. M Seri, R Cusano, S Gangarossa, G Caridi, D Bordo, L Nigro, ... Nature genetics 26 (1), 103-105, 2000 | 403 | 2000 |
| Guidelines for the diagnosis and management of hereditary spherocytosis PHB Bolton‐Maggs, RF Stevens, NJ Dodd, G Lamont, P Tittensor, ... British journal of haematology 126 (4), 455-474, 2004 | 393 | 2004 |
| The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload C Camaschella, A Campanella, L De Falco, L Boschetto, R Merlini, ... Blood, The Journal of the American Society of Hematology 110 (4), 1353-1358, 2007 | 389 | 2007 |
| Tomographic flow cytometry by digital holography F Merola, P Memmolo, L Miccio, R Savoia, M Mugnano, A Fontana, ... Light: Science & Applications 6 (4), e16241-e16241, 2017 | 387 | 2017 |
| Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia … J Donadieu, T Leblanc, BB Meunier, M Barkaoui, O Fenneteau, ... haematologica 90 (1), 45-53, 2005 | 357 | 2005 |
| Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1 I Andolfo, SL Alper, L De Franceschi, C Auriemma, R Russo, L De Falco, ... Blood, The Journal of the American Society of Hematology 121 (19), 3925-3935, 2013 | 342 | 2013 |
| MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma L Garzia, I Andolfo, E Cusanelli, N Marino, G Petrosino, D De Martino, ... PloS one 4 (3), e4998, 2009 | 333 | 2009 |
| Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism DA Oldridge, AC Wood, N Weichert-Leahey, I Crimmins, R Sussman, ... Nature 528 (7582), 418-421, 2015 | 322 | 2015 |
| Integrative genomics identifies LMO1 as a neuroblastoma oncogene K Wang, SJ Diskin, H Zhang, EF Attiyeh, C Winter, C Hou, RW Schnepp, ... Nature 469 (7329), 216-220, 2011 | 322 | 2011 |
| Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II K Schwarz, A Iolascon, F Verissimo, NS Trede, W Horsley, W Chen, ... Nature genetics 41 (8), 936-940, 2009 | 317 | 2009 |
| Inherited thrombocytopenias: from genes to therapy CL Balduini, A Iolascon, A Savoia haematologica 87 (8), 860-880, 2002 | 292 | 2002 |
| Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma SJ Diskin, M Capasso, RW Schnepp, KA Cole, EF Attiyeh, C Hou, ... Nature genetics 44 (10), 1126-1130, 2012 | 287 | 2012 |
| Whole-genome sequencing reveals host factors underlying critical COVID-19 A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ... Nature 607 (7917), 97-103, 2022 | 284 | 2022 |
| A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia L Arnaud, C Saison, V Helias, N Lucien, D Steschenko, MC Giarratana, ... The American Journal of Human Genetics 87 (5), 721-727, 2010 | 226 | 2010 |
| Position of nonmuscle myosin heavy chain IIA (NMMHC‐IIA) mutations predicts the natural history of MYH9‐related disease A Pecci, E Panza, N Pujol‐Moix, C Klersy, F Di Bari, V Bozzi, P Gresele, ... Human mutation 29 (3), 409-417, 2008 | 226 | 2008 |
| NCOA4 deficiency impairs systemic iron homeostasis R Bellelli, G Federico, D Colecchia, A Iolascon, M Chiariello, M Santoro, ... Cell reports 14 (3), 411-421, 2016 | 223 | 2016 |
