IRIS
RENIERI, ALESSANDRA
 Distribuzione geografica
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Continente #
NA - Nord America 37.043
EU - Europa 30.480
AS - Asia 17.204
SA - Sud America 2.976
Continente sconosciuto - Info sul continente non disponibili 1.290
AF - Africa 1.020
OC - Oceania 118
AN - Antartide 1
Totale 90.132
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Nazione #
US - Stati Uniti d'America 36.382
IT - Italia 6.666
RU - Federazione Russa 5.868
CN - Cina 5.529
GB - Regno Unito 5.297
SG - Singapore 4.983
IE - Irlanda 3.313
BR - Brasile 2.442
VN - Vietnam 2.112
DE - Germania 1.956
UA - Ucraina 1.654
SE - Svezia 1.645
FR - Francia 1.591
HK - Hong Kong 1.495
FI - Finlandia 997
KR - Corea 871
ZA - Sudafrica 565
BD - Bangladesh 517
IN - India 493
NL - Olanda 370
CA - Canada 350
TR - Turchia 221
ES - Italia 218
AR - Argentina 172
MX - Messico 164
JP - Giappone 159
BE - Belgio 157
PL - Polonia 156
IQ - Iraq 135
AT - Austria 128
NG - Nigeria 115
CZ - Repubblica Ceca 111
AU - Australia 102
EC - Ecuador 93
PK - Pakistan 86
ID - Indonesia 70
SA - Arabia Saudita 70
CI - Costa d'Avorio 68
KE - Kenya 65
CL - Cile 59
CO - Colombia 59
IR - Iran 57
MA - Marocco 56
UZ - Uzbekistan 56
CH - Svizzera 54
VE - Venezuela 49
EG - Egitto 43
AE - Emirati Arabi Uniti 41
LT - Lituania 39
PY - Paraguay 38
AZ - Azerbaigian 32
PH - Filippine 31
GR - Grecia 27
PE - Perù 27
RO - Romania 26
TN - Tunisia 26
MY - Malesia 24
BG - Bulgaria 23
IL - Israele 23
JO - Giordania 23
KZ - Kazakistan 22
NP - Nepal 22
CR - Costa Rica 20
DK - Danimarca 20
UY - Uruguay 20
DZ - Algeria 19
EU - Europa 19
AL - Albania 18
HU - Ungheria 18
PA - Panama 18
PT - Portogallo 17
TT - Trinidad e Tobago 17
DO - Repubblica Dominicana 16
HN - Honduras 15
JM - Giamaica 15
OM - Oman 15
BO - Bolivia 13
SN - Senegal 13
ET - Etiopia 12
HR - Croazia 12
KG - Kirghizistan 12
LB - Libano 12
NO - Norvegia 12
SK - Slovacchia (Repubblica Slovacca) 12
RS - Serbia 11
LV - Lettonia 10
NZ - Nuova Zelanda 10
TW - Taiwan 10
GT - Guatemala 9
LK - Sri Lanka 9
LU - Lussemburgo 9
CY - Cipro 8
EE - Estonia 8
PR - Porto Rico 8
AO - Angola 7
BY - Bielorussia 7
LA - Repubblica Popolare Democratica del Laos 7
MD - Moldavia 7
MK - Macedonia 7
PS - Palestinian Territory 7
Totale 88.722
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Città #
Dallas 4.964
Southend 4.456
Fairfield 3.270
Dublin 3.264
Singapore 2.918
Ashburn 2.874
Chandler 1.987
Santa Clara 1.769
Milan 1.622
Moscow 1.612
Woodbridge 1.562
Hong Kong 1.419
San Jose 1.353
Seattle 1.347
Jacksonville 1.295
Houston 1.278
Beijing 1.268
Wilmington 1.221
Hefei 1.180
Cambridge 1.086
Ann Arbor 1.046
Council Bluffs 879
Seoul 858
Siena 814
Los Angeles 654
Ho Chi Minh City 647
The Dalles 581
Rome 580
Princeton 557
Munich 545
Helsinki 536
New York 514
Johannesburg 512
Menlo Park 489
Hanoi 475
Lauterbourg 450
Nanjing 446
Boardman 247
Buffalo 239
Florence 228
Columbus 226
San Mateo 223
São Paulo 223
San Diego 206
Dong Ket 200
Shanghai 189
Chicago 153
Nanchang 150
Bengaluru 148
London 148
Orem 145
Dearborn 129
Tokyo 123
Figino 113
Redondo Beach 113
Shenyang 113
Nuremberg 110
Warsaw 110
Abuja 109
Naples 109
Tianjin 108
Toronto 105
Brussels 103
Frankfurt am Main 103
Turku 100
Da Nang 98
Phoenix 98
Turin 95
Málaga 90
Izmir 89
Montreal 88
Düsseldorf 87
Lancaster 87
Chennai 86
Washington 85
Lappeenranta 84
Boston 83
Haiphong 81
Rio de Janeiro 81
Brooklyn 80
Hebei 78
Norwalk 77
Bologna 75
Denver 75
Changsha 73
San Francisco 72
Brno 70
Guangzhou 70
Abidjan 68
Brescia 67
Jiaxing 67
Stockholm 67
Atlanta 64
Amsterdam 62
Zhengzhou 61
Jinan 58
Kunming 57
Vienna 57
Manchester 52
Mexico City 52
Totale 59.235
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Nome #
VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases 912
A first update on mapping the human genetic architecture of COVID-19 598
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 590
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 530
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 508
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder 477
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype 472
Genetic mechanisms of critical illness in COVID-19 449
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 435
13q Deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins 412
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 410
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome 397
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 393
Evidence of predisposing epimutation in retinoblastoma 387
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 382
An explainable model of host genetic interactions linked to COVID-19 severity 382
Pathogen-sugar interactions revealed by universal saturation transfer analysis 370
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 355
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine 355
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 355
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears 344
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 343
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 343
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA. 341
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 340
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 335
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 334
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses 328
Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder 327
Alport syndrome: impact of digenic inheritance in patients management 326
A new mutation in DNM2 gene in a large Italian family 326
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 322
Clonality analysis of immunoglobulin gene rearrangement by next-generation sequencing in endemic burkitt lymphoma suggests antigen drive activation of bcr as opposed to sporadic burkitt lymphoma 322
null 320
Genomic differences between retinoma and retinoblastoma 318
A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb 318
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing 318
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 318
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome? 316
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 315
Epilepsy in Rett syndrome - Lessons from the Rett networked database 313
2q24-q31 deletion: report of a case and review of the literature 313
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 311
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues 308
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders 308
Evidence of digenic inheritance in Alport syndrome 307
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 302
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 301
Visual impairment in FOXG1-mutated individuals and mice 300
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 298
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 297
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 296
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 296
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy 296
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 295
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 295
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene 293
Analysis of the Phenotypes in the Rett Networked Database 293
First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy 291
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study 291
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 290
Multiple endocrine neoplasia type 2 syndromes may be associated with renal malformations 285
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 284
Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: Prevalence of a novel mutation 282
X-Linked Alport Syndrome: Natural History and Genotype-Phenotype Correlations in Girls and Women Belonging to 195 Families: A "European Community Alport Syndrome Concerted Action" study 280
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability. 280
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/- patients and in foxg1+/- mice 280
Private inherited microdeletion/microduplications: implications in clinical practice 278
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 278
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 277
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 277
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome 277
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care 276
Advances in Alport syndrome diagnosis using next-generation sequencing 271
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 270
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 268
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis 265
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. 264
Analysis of the hypoxia-response element of the vascular endothelial growth factor promoter in sporadic als patients 263
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 261
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor 259
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 258
Commentary: Potential links between hepadnavirus and bornavirus sequences in the host genome and cancer 257
Expert consensus guidelines for the genetic diagnosis of Alport syndrome 257
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 256
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy 256
AAV-mediated FOXG1 gene editing in human Rett primary cells 256
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks 252
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 252
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells 251
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 250
The role of surgical lung biopsy in the management of interstitial lung disease: experience from a single institution in the UK 250
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases 249
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes 249
A novel OPA1 mutation resulting in atypical dominant optic atrophy with NTG “Like” phenotype. 249
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 248
Non-collagen genes role in digenic Alport syndrome 248
Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants 248
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality 246
Dropped-head in recessive oculopharyngeal muscular dystrophy 245
Totale 32.269
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Categoria #
all - tutte 278.286
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 278.286
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20224.472 0 573 362 388 220 151 227 198 225 542 501 1.085
2022/20237.094 433 610 822 895 683 1.387 298 614 698 170 292 192
2023/20245.618 240 172 579 333 260 1.410 1.689 175 70 160 141 389
2024/202513.407 397 591 1.206 828 1.757 807 605 825 1.017 628 1.358 3.388
2025/202633.513 2.427 4.773 3.919 3.728 5.695 1.226 3.860 1.203 1.252 1.778 1.041 2.611
2026/20271.951 1.612 339 0 0 0 0 0 0 0 0 0 0
Totale 90.132