IRIS
RUSSO, ROBERTA
 Distribuzione geografica
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Continente #
AS - Asia 5.544
NA - Nord America 4.452
EU - Europa 3.715
SA - Sud America 695
AF - Africa 188
OC - Oceania 24
Continente sconosciuto - Info sul continente non disponibili 4
Totale 14.622
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Nazione #
US - Stati Uniti d'America 4.229
SG - Singapore 2.275
RU - Federazione Russa 1.673
CN - Cina 1.083
VN - Vietnam 1.013
IT - Italia 859
BR - Brasile 548
HK - Hong Kong 413
DE - Germania 242
FR - Francia 198
BD - Bangladesh 155
NL - Olanda 152
GB - Regno Unito 150
CA - Canada 118
IN - India 118
FI - Finlandia 106
JP - Giappone 94
IE - Irlanda 85
KR - Corea 67
AR - Argentina 66
CI - Costa d'Avorio 62
MX - Messico 50
PH - Filippine 50
PL - Polonia 40
ZA - Sudafrica 36
TH - Thailandia 34
ES - Italia 33
AT - Austria 31
PK - Pakistan 29
IQ - Iraq 26
SE - Svezia 25
IL - Israele 23
ID - Indonesia 22
TR - Turchia 22
TW - Taiwan 22
AU - Australia 20
MA - Marocco 20
EC - Ecuador 19
LT - Lituania 18
UA - Ucraina 18
VE - Venezuela 16
EG - Egitto 14
AE - Emirati Arabi Uniti 13
BE - Belgio 13
CL - Cile 13
CO - Colombia 13
SA - Arabia Saudita 12
CH - Svizzera 11
CZ - Repubblica Ceca 10
JM - Giamaica 10
TN - Tunisia 10
UZ - Uzbekistan 10
MY - Malesia 9
DZ - Algeria 8
KE - Kenya 7
OM - Oman 7
BG - Bulgaria 6
JO - Giordania 6
KZ - Kazakistan 6
NP - Nepal 6
PR - Porto Rico 6
TT - Trinidad e Tobago 6
UY - Uruguay 6
HR - Croazia 5
MK - Macedonia 5
NI - Nicaragua 5
PE - Perù 5
SC - Seychelles 5
AL - Albania 4
AZ - Azerbaigian 4
CY - Cipro 4
HN - Honduras 4
IR - Iran 4
NO - Norvegia 4
NZ - Nuova Zelanda 4
PA - Panama 4
RO - Romania 4
SO - Somalia 4
AM - Armenia 3
BB - Barbados 3
BO - Bolivia 3
BZ - Belize 3
CR - Costa Rica 3
ET - Etiopia 3
HU - Ungheria 3
KG - Kirghizistan 3
LB - Libano 3
PT - Portogallo 3
PY - Paraguay 3
RS - Serbia 3
AO - Angola 2
BS - Bahamas 2
CD - Congo 2
DK - Danimarca 2
DO - Repubblica Dominicana 2
EU - Europa 2
GT - Guatemala 2
GY - Guiana 2
LU - Lussemburgo 2
LY - Libia 2
Totale 14.583
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Città #
Singapore 1.095
San Jose 711
Ashburn 426
Moscow 409
Hong Kong 399
Ho Chi Minh City 311
Beijing 280
Hefei 267
Hanoi 243
Chandler 213
Naples 213
Santa Clara 188
Los Angeles 133
Lauterbourg 115
The Dalles 89
Tokyo 88
Amsterdam 86
Munich 86
Millbury 81
Napoli 80
New York 80
Boston 69
São Paulo 65
Council Bluffs 61
Buffalo 58
Frankfurt am Main 53
Seoul 51
Redondo Beach 47
Nanjing 46
Dallas 45
Des Moines 44
Lawrence 44
Princeton 44
Haiphong 43
Turku 42
Rome 41
Atlanta 40
Da Nang 40
Milan 39
Chicago 31
Redwood City 31
Warsaw 31
Orem 30
Brooklyn 29
Montreal 29
Houston 28
Wilmington 28
Rio de Janeiro 27
Dublin 26
Toronto 25
London 23
Johannesburg 22
Nuremberg 21
Tianjin 21
Belo Horizonte 19
Mexico City 19
Ottawa 19
Seattle 19
Boardman 18
Chennai 18
Biên Hòa 17
Helsinki 17
Fairfield 16
Vienna 15
Columbus 14
Falkenstein 14
Phoenix 14
Poplar 14
San Francisco 14
Baghdad 13
Hebei 13
Kochi 13
Manchester 13
Stockholm 13
Thái Nguyên 13
Dong Ket 12
Nanchang 12
Ninh Bình 12
Shanghai 12
Curitiba 11
Denver 11
Bangkok 10
Brasília 10
Can Tho 10
Guangzhou 10
Hải Dương 10
Jacksonville 10
Jerusalem 10
Memphis 10
San Giorgio A Cremano 10
Shenyang 10
Tashkent 10
Casablanca 9
Islamabad 9
Mumbai 9
New Delhi 9
Newark 9
Brussels 8
Campinas 8
City of London 8
Totale 7.441
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Nome #
Whole-genome sequencing reveals host factors underlying critical COVID-19 605
A first update on mapping the human genetic architecture of COVID-19 326
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II 286
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 222
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 194
Targeting ATP2B1 impairs PI3K/Akt/FOXO signaling and reduces SARS-COV-2 infection and replication 184
Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia 183
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 177
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 176
RAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis 174
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 172
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 167
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 166
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 163
Dysregulation of lipid metabolism and pathological inflammation in patients with COVID-19. 162
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 162
An explainable model of host genetic interactions linked to COVID-19 severity 159
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 155
Mapping the human genetic architecture of COVID-19 151
One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene 148
Complex modes of inheritance in hereditary red blood cell disorders: A case series study of 155 patients 147
Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation 146
Diagnosis and management of congenital dyserythropoietic anemias 145
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis) 143
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus 143
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 140
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis 139
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia 138
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway 138
Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women 137
Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility 136
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias 134
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency 133
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population. 133
Characterization of two cases of congenital dyserythropoietic anemia type I shed light on the uncharacterized C15orf41 protein 133
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 133
Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients 132
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants 132
Recommendations regarding splenectomy in hereditary hemolytic anemias 131
Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19 131
New insights on hereditary erythrocyte membrane defects 127
Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias 127
Differential diagnosis of hereditary anemias from a fraction of blood drop by digital holography and hierarchical machine learning 126
Corrigendum: Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein (Frontiers in Physiology, (2019), 10, 10.3389/fphys.2019.00621) 125
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1 124
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of Congenital Dyserythropoietic Anemia type II 124
Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d inerythroid cells. 122
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant 122
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 121
Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene 121
Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias 120
Rap-011 rescues the disease phenotype in a cellular model of congenital dyserythropoietic anemia type ii by inhibiting the smad2-3 pathway 120
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 119
Comparative proteomic expression profile in all-trans retinoic acid differentiated neuroblastoma cellline. 119
Congenital dyserythropoietic anemias. 117
Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach. 117
Hereditary stomatocytosis: An underdiagnosed condition 117
Mitapivat, a pyruvate kinase activator, improves transfusion burden and reduces iron overload in β-thalassemic mice 115
Suppressor of cytokine signaling 3 (SOCS3) expression and hepatitis C virus-related chronic hepatitis:Insulin resistance and response to antiviral therapy 115
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: Definition of clinical and molecular spectrum and identification of new diagnostic scores 115
Relevance of the E756del common variant in the PIEZO1 gene for haemolytic anaemia and hepatic iron overload 113
Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations 113
Integration of Pharmacogenetics and Pharmacogenomics in Drug Development: Implications for Regulatory and Medical Decision Making in Pediatric Diseases. 112
Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia 112
Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report 111
PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes 110
Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias 109
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review 109
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients 109
Genetic Analysis of the Coronavirus SARS-CoV-2 Host Protease TMPRSS2 in Different Populations 109
The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model 109
Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge 107
A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity 105
Congenital dyserythropoietic anaemias: new acquisitions. 105
SEC23B Loss-of-Function Suppresses Hepcidin Expression by Imparing Glycosylation Pathway in Human Hepatic Cells 105
Inherited hematological disorders due to defects in coat protein (COP)II complex. 103
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II 102
A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: A case report and a brief review of literature 102
Inherited microcytic anemias 99
The Serum Metabolome of Moderate and Severe COVID-19 Patients Reflects Possible Liver Alterations Involving Carbon and Nitrogen Metabolism 99
Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene. 98
Summary of Joint European Hematology Association (EHA) and EuroBloodNet Recommendations on Diagnosis and Treatment of Methemoglobinemia 98
Hereditary Hemolytic Anemia Due to PIEZO1 Red Blood Cell Membrane Defect 96
Next generation research and therapy in red blood cell diseases 96
CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia 96
Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II 95
Recommendations for Pregnancy in Rare Inherited Anemias 95
The frameshift Leu220Phefs*2 variant in KRIT1 accounts for early acute bleeding in patients affected by cerebral cavernous malformation 95
Pediatric pharmacogenetic and pharmacogenomic studies: the current state and future perspectives. 93
A novel pathogenic variant causing POU3F3-related neurodevelopmental disorder in a child presenting with infantile epileptic spasms syndrome: Expanding the epileptic phenotype 92
SOCS3 and IRS-1 gene expression differs between genotype 1 and genotype 2 hepatitis C virus-infected HepG2 cells. 91
Congenital dyserythropoietic anemias 83
Recommendations for diagnosis and treatment of methemoglobinemia 81
Genetic mechanisms of critical illness in COVID-19 81
Targeted Next Generation Sequencing Identifies a Novel ß-spectrin gene mutation A2059P in two Omani children with Hereditary Pyropoikilocytosis 79
Mitapivat reprograms the RBC metabolome and improves anemia in a mouse model of hereditary spherocytosis 76
Anaemias diagnosis by label-free quantitative phase imaging 74
The european hematology association roadmap for european hematology research: A consensus document. 74
Advances in understanding the pathogenesis of red cell membrane disorders 73
Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship. 71
Totale 13.169
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Categoria #
all - tutte 46.403
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 46.403
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022628 25 15 34 35 12 18 33 46 60 26 120 204
2022/2023600 90 64 32 13 55 54 9 46 109 72 42 14
2023/2024592 29 89 113 39 24 26 27 89 6 15 106 29
2024/20253.933 144 185 28 76 133 176 389 267 307 392 1.431 405
2025/20267.991 914 603 808 735 1.192 296 832 448 1.008 582 243 330
2026/2027397 397 0 0 0 0 0 0 0 0 0 0 0
Totale 14.879