IRIS
BANFI, Sandro
 Distribuzione geografica
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Continente #
EU - Europa 12.637
NA - Nord America 5.933
AS - Asia 4.797
SA - Sud America 801
Continente sconosciuto - Info sul continente non disponibili 385
AF - Africa 50
OC - Oceania 19
AN - Antartide 1
Totale 24.623
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Nazione #
RU - Federazione Russa 8.100
US - Stati Uniti d'America 5.822
SG - Singapore 1.615
IE - Irlanda 1.235
CN - Cina 1.091
IT - Italia 868
HK - Hong Kong 731
VN - Vietnam 647
BR - Brasile 642
UA - Ucraina 596
GB - Regno Unito 562
DE - Germania 457
SE - Svezia 192
KR - Corea 178
FI - Finlandia 176
FR - Francia 165
IN - India 157
GR - Grecia 99
TR - Turchia 92
JP - Giappone 86
AR - Argentina 58
CA - Canada 37
AT - Austria 33
EC - Ecuador 29
MX - Messico 29
NL - Olanda 29
BD - Bangladesh 28
PK - Pakistan 27
ID - Indonesia 26
CH - Svizzera 23
IQ - Iraq 22
BE - Belgio 20
PY - Paraguay 20
PL - Polonia 18
AU - Australia 17
ES - Italia 16
VE - Venezuela 16
ZA - Sudafrica 14
CO - Colombia 13
AE - Emirati Arabi Uniti 12
RO - Romania 12
UZ - Uzbekistan 12
GT - Guatemala 10
CZ - Repubblica Ceca 9
PE - Perù 9
SA - Arabia Saudita 9
CL - Cile 8
JM - Giamaica 8
MA - Marocco 8
AZ - Azerbaigian 6
DZ - Algeria 6
KZ - Kazakistan 6
LT - Lituania 6
TN - Tunisia 6
TW - Taiwan 6
DO - Repubblica Dominicana 5
EG - Egitto 5
JO - Giordania 5
KG - Kirghizistan 5
OM - Oman 5
PH - Filippine 5
AL - Albania 4
CR - Costa Rica 4
LB - Libano 4
NP - Nepal 4
PS - Palestinian Territory 4
TH - Thailandia 4
BG - Bulgaria 3
IR - Iran 3
KE - Kenya 3
LV - Lettonia 3
MY - Malesia 3
PA - Panama 3
PT - Portogallo 3
TT - Trinidad e Tobago 3
UY - Uruguay 3
BN - Brunei Darussalam 2
BO - Bolivia 2
CU - Cuba 2
DK - Danimarca 2
ET - Etiopia 2
NG - Nigeria 2
NI - Nicaragua 2
NZ - Nuova Zelanda 2
PR - Porto Rico 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
SV - El Salvador 2
AQ - Antartide 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BW - Botswana 1
BZ - Belize 1
EU - Europa 1
GF - Guiana Francese 1
GP - Guadalupe 1
HN - Honduras 1
HR - Croazia 1
IL - Israele 1
LU - Lussemburgo 1
Totale 24.236
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Città #
Moscow 2.956
Dublin 1.224
Jacksonville 897
Santa Clara 756
Hong Kong 725
Singapore 648
Chandler 641
San Jose 625
Ashburn 253
Ho Chi Minh City 235
Princeton 182
Seoul 177
Hefei 158
Boardman 149
Hanoi 149
Medford 144
Beijing 125
Bremen 124
Roxbury 118
Dallas 110
Bengaluru 109
Caserta 105
Ann Arbor 104
San Mateo 83
Wilmington 79
Naples 70
Woodbridge 70
Los Angeles 62
Cambridge 56
São Paulo 54
Munich 53
The Dalles 46
Aversa 43
Jinan 41
New York 39
Da Nang 34
Des Moines 33
Mountain View 30
Rome 29
Haiphong 27
Nanjing 27
Guangzhou 26
Nuremberg 26
Memphis 22
Milan 21
Brussels 20
Düsseldorf 19
Biên Hòa 18
Houston 18
Rio de Janeiro 18
London 17
Istanbul 16
Vienna 16
Norwalk 15
Orem 15
Turku 15
Atlanta 14
Frankfurt am Main 14
Helsinki 14
Amsterdam 13
Atella 13
Auburn Hills 13
Castelfranco Emilia 13
Chicago 13
Council Bluffs 13
Hải Dương 13
San Francisco 13
Zhengzhou 13
Bologna 12
Brasília 12
Florence 12
Manchester 12
Napoli 12
Perth 12
Shenyang 12
Warsaw 12
Brooklyn 11
Chennai 11
Falkenstein 11
Hangzhou 11
Nanchang 11
Ningbo 11
Tianjin 11
Torre del Greco 11
Karachi 10
Mumbai 10
Belo Horizonte 9
Casoria 9
Changsha 9
Curitiba 9
Fortaleza 9
Guatemala City 9
Porto Alegre 9
Taiyuan 9
Taizhou 9
Tashkent 9
Asunción 8
Buenos Aires 8
Campinas 8
Falls Church 8
Totale 12.357
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Nome #
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 243
Analisi di correlazione genotipo fenotipo in una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8 241
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 225
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 196
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial 184
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 176
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 175
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 175
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 175
AAV-miR-204 Protects from Retinal Degeneration by Attenuation of Microglia Activation and Photoreceptor Cell Death 165
A Phase I Safety Study in Subjects with Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver The Gene For Human Rpe65 Into The Retinal Pigment Epithelium (Rpe) [AAV.RPE65-101]: Treatment and Follow up of 3 Italian Patients 164
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes 160
Sicurezza ed efficacia della terapia genica nell'Amaurosi Congenita di Leber: un anno di followup. 159
Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype 157
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications. 156
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. 155
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 153
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with leber congenital amaurosis type 2 151
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants 150
An atlas of gene expression and gene co-regulation in the human retina 149
Intrafamilial heterogeneity of congenital optic disc pit maculopathy 149
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy 148
A double-blind cross-over trial of amantadine hydrochloride in Friedreich's ataxia 148
A novel mutation in SACS gene in a family from southern Italia 148
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 145
Studio clinico genetico di pazienti con amaurosi congenita di Leber 143
A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss 142
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy 142
A high-resolution anatomical atlas of the transcriptome in the mouse embryo 142
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration 141
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility 140
An interconnected data infrastructure to support large-scale rare disease research 139
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (Genetics in Medicine, (2018), 10.1038/s41436-018-0345-5) 139
A gene network regulating lysosomal biogenesis and function 138
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa 137
A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms 137
A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation 137
Clinical and molecular characterization of achromatopsia patients: A longitudinal study 137
Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy 136
Pax6 Regulates Gene Expression in the Vertebrate Lens through miR-204 136
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly 136
Clinical expression of juvenile x-linked retinoschisis in Italian families with mutations in the XLRS1 gene 136
Voretigene neparvovec gene therapy in clinical practice: treatment of the first two italian pediatric patients 136
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients 135
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 135
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. 135
Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8-mediated rat liver transduction 135
Analisi di mutazione del gene XLRS1 in famiglie Italiane affette da retinoschisi X-linked congenita 135
A high-resolution RNA expression atlas of Retinitis Pigmentosa genes in the human and mouse retinas 134
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients 134
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1) 134
miR-181a/b control the assembly of visual circuitry by regulating retinal axon specification and growth 133
A novel zinc finger-containing RNA-binding protein conserved from fruitflies to humans 133
A practical guide to orient yourself in the labyrinth of genome databases 133
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations 133
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 131
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. 130
The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance 130
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families 129
Molecular epidemiology of Usher syndrome in Italy 129
Autosomal recessive retinitis pigmentosa gene analysis in Italian patients 128
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice 127
Identification of microRNA-regulated gene networks by expression analysis of target genes. 127
A novel homeobox gene, vax2, controls the patterning of the eye dorso-ventral axis 127
Studio clinico-genetico di una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8. 127
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Menetrier-like gastropathy 126
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 126
MicroRNA-Restricted transgene expression in the retina 125
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 124
Inherited Retinal Dystrophies: The role of gene expression regulators 124
Toward a novel medical device based on chromatic pupillometry for screening and monitoring of inherited ocular disease: A pilot study 124
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 123
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis 122
Mutations in IMPG1 cause vitelliform macular dystrophies 122
Il mondo degli RNA non codificanti 122
In vitro high-content screening reveals miR-429 as a protective molecule in photoreceptor degeneration 120
Molecular diagnosis of usher syndrome: application of two different next generation sequencing-based procedures. 120
Development of a genotyping Microarray for usher syndrome 120
Retinite pigmentosa autosomica dominante: correlazione genotipo fenotipo in una famiglia italiana con mutazione nel gene NRL 120
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 119
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 119
Studio multicentrico nell’amaurosi congenita di leber: aspetti clinici e genetici 119
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss 118
Human chromosome 21 gene expression atlas in the mouse 118
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 117
MiR-204 targeting of Ankrd13A controls both mesenchymal neural crest and lens cell migration 116
HOCTAR database: a unique resource for microRNA target prediction 116
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 116
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study 116
Aspetti ecografici della retinoschisi X-linked congenita 114
TGF-β controls miR-181/ERK regulatory network during retinal axon specification and growth 114
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study 113
Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration 113
miR-340 inhibits tumor cell proliferation and induces apoptosis by targeting multiple negative regulators of p27 in non-small cell lung cancer 113
Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset 113
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 112
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa 112
Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance 112
Identification and characterization of microRNAs expressed in the mouse eye 112
The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function 111
Totale 13.766
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Categoria #
all - tutte 84.685
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 84.685
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.135 0 7 32 19 391 11 11 116 45 86 73 344
2022/20232.350 199 71 20 200 304 201 1 129 1.123 20 46 36
2023/2024937 75 29 39 76 327 28 30 42 4 21 72 194
2024/20253.085 27 49 25 69 467 441 499 321 337 390 235 225
2025/202613.334 452 688 708 628 1.059 7.505 662 416 492 384 196 144
2026/2027169 107 62 0 0 0 0 0 0 0 0 0 0
Totale 24.623