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achille iolascon
achille iolascon
Affiliazione Dept of Molecular Medicine and Medical Biotechnology
Verified email at unina.it
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Cited by
Cited by
Year
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
9852012
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
7902021
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
4892012
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
4122003
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
4012000
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
3882007
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
3882004
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
3782017
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
3502005
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
3382013
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
3332009
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
3212015
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
3212011
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
3162009
Inherited thrombocytopenias: from genes to therapy
CL Balduini, A Iolascon, A Savoia
haematologica 87 (8), 860-880, 2002
2892002
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
2852012
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
2672022
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
2252010
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
2242008
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
2212016
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