Multi‐gene panel testing improves diagnosis and management of patients with hereditary anemias R Russo, I Andolfo, F Manna, A Gambale, R Marra, BE Rosato, P Caforio, ... American journal of hematology 93 (5), 672-682, 2018 | 144 | 2018 |
Common variants at 21q22. 3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 I Andolfo, R Russo, VA Lasorsa, S Cantalupo, BE Rosato, F Bonfiglio, ... Iscience 24 (4), 2021 | 52 | 2021 |
Genotype‐phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients I Andolfo, R Russo, BE Rosato, F Manna, A Gambale, C Brugnara, ... American Journal of Hematology 93 (12), 1509-1517, 2018 | 49 | 2018 |
Gain‐of‐function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway I Andolfo, BE Rosato, F Manna, G De Rosa, R Marra, A Gambale, D Girelli, ... American Journal of Hematology 95 (2), 188-197, 2020 | 42 | 2020 |
Genetics and genomics approaches for diagnosis and research into hereditary anemias R Russo, R Marra, BE Rosato, A Iolascon, I Andolfo Frontiers in Physiology 11, 613559, 2020 | 37 | 2020 |
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells I Andolfo, G De Rosa, E Errichiello, F Manna, BE Rosato, A Gambale, ... Frontiers in physiology 10, 258, 2019 | 32 | 2019 |
Complex modes of inheritance in hereditary red blood cell disorders: a case series study of 155 patients I Andolfo, S Martone, BE Rosato, R Marra, A Gambale, GL Forni, V Pinto, ... Genes 12 (7), 958, 2021 | 29 | 2021 |
Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19 S Cantalupo, VA Lasorsa, R Russo, I Andolfo, G D’Alterio, BE Rosato, ... International journal of molecular sciences 22 (10), 5372, 2021 | 25 | 2021 |
Characterization of two cases of congenital dyserythropoietic anemia type I shed light on the uncharacterized C15orf41 protein R Russo, R Marra, I Andolfo, G De Rosa, BE Rosato, F Manna, ... Frontiers in physiology 10, 621, 2019 | 24 | 2019 |
The BMP‐SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE‐A260S variant I Andolfo, BE Rosato, R Marra, G De Rosa, F Manna, A Gambale, ... American Journal of Hematology 94 (11), 1227-1235, 2019 | 23 | 2019 |
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis I Andolfo, F Manna, G De Rosa, BE Rosato, A Gambale, G Tomaiuolo, ... Haematologica 103 (3), e94, 2018 | 23 | 2018 |
RAP-011 rescues the disease phenotype in a cellular model of congenital dyserythropoietic anemia type II by inhibiting the SMAD2-3 pathway G De Rosa, I Andolfo, R Marra, F Manna, BE Rosato, A Iolascon, R Russo International journal of molecular sciences 21 (15), 5577, 2020 | 11 | 2020 |
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals G D’Alterio, VA Lasorsa, F Bonfiglio, S Cantalupo, BE Rosato, I Andolfo, ... Genetics in Medicine 24 (8), 1653-1663, 2022 | 10 | 2022 |
Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene R Russo, R Marra, I Andolfo, F Manna, G De Rosa, BE Rosato, ... Am J Hematol 95 (11), 1423-6, 2020 | 10 | 2020 |
SEC23B loss-of-function suppresses hepcidin expression by impairing glycosylation pathway in human hepatic cells BE Rosato, R Marra, V D’Onofrio, F Del Giudice, S Della Monica, ... International Journal of Molecular Sciences 23 (3), 1304, 2022 | 9 | 2022 |
Common variants at 21q22. 3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19. iScience. 2021; 24 (4): 102322 I Andolfo, R Russo, VA Lasorsa, S Cantalupo, BE Rosato, F Bonfiglio, ... Epub, 2021 | 8 | 2021 |
Kinome multigenic panel identified novel druggable EPHB4‐V871I somatic variant in high‐risk neuroblastoma I Andolfo, VA Lasorsa, F Manna, BE Rosato, D Formicola, A Iolascon, ... Journal of Cellular and Molecular Medicine 24 (11), 6459-6471, 2020 | 7 | 2020 |
Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency A Zaninoni, R Marra, E Fermo, D Consonni, I Andolfo, AP Marcello, ... Scientific Reports 13 (1), 4395, 2023 | 6 | 2023 |
Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations I Andolfo, V Monaco, F Cozzolino, BE Rosato, R Marra, V Cerbone, ... Blood Advances 7 (12), 2681-2693, 2023 | 5 | 2023 |
Common variants at 21q223 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19. iScience. 2021 I Andolfo, R Russo, VA Lasorsa, S Cantalupo, BE Rosato, F Bonfiglio, ... | 5 | |