IRIS
MERLA, Giuseppe
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
AS - Asia 2.879
EU - Europa 2.209
NA - Nord America 1.834
SA - Sud America 536
AF - Africa 93
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 1
Totale 7.563
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 1.733
SG - Singapore 1.694
RU - Federazione Russa 1.021
IT - Italia 528
CN - Cina 520
BR - Brasile 439
VN - Vietnam 256
HK - Hong Kong 169
DE - Germania 152
NL - Olanda 114
GB - Regno Unito 67
FI - Finlandia 62
CA - Canada 54
KR - Corea 53
FR - Francia 52
UA - Ucraina 49
IN - India 45
AR - Argentina 42
IE - Irlanda 41
AT - Austria 38
MX - Messico 34
CI - Costa d'Avorio 32
PL - Polonia 25
ZA - Sudafrica 24
BD - Bangladesh 21
ID - Indonesia 21
EC - Ecuador 16
TR - Turchia 16
ES - Italia 14
JP - Giappone 12
CO - Colombia 11
PK - Pakistan 10
AU - Australia 9
BE - Belgio 8
IQ - Iraq 8
MA - Marocco 8
SE - Svezia 8
NP - Nepal 7
AE - Emirati Arabi Uniti 6
PY - Paraguay 6
SA - Arabia Saudita 6
CL - Cile 5
CZ - Repubblica Ceca 5
EG - Egitto 5
LT - Lituania 5
MY - Malesia 5
PE - Perù 5
UY - Uruguay 5
BO - Bolivia 4
CH - Svizzera 4
IR - Iran 4
SO - Somalia 4
DO - Repubblica Dominicana 3
UZ - Uzbekistan 3
AM - Armenia 2
AZ - Azerbaigian 2
BF - Burkina Faso 2
BY - Bielorussia 2
DK - Danimarca 2
HN - Honduras 2
IL - Israele 2
JM - Giamaica 2
JO - Giordania 2
KE - Kenya 2
KZ - Kazakistan 2
NG - Nigeria 2
NZ - Nuova Zelanda 2
SI - Slovenia 2
TH - Thailandia 2
TN - Tunisia 2
TW - Taiwan 2
VE - Venezuela 2
AF - Afghanistan, Repubblica islamica di 1
AL - Albania 1
BB - Barbados 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BW - Botswana 1
CD - Congo 1
CR - Costa Rica 1
CY - Cipro 1
GE - Georgia 1
GH - Ghana 1
GM - Gambi 1
GN - Guinea 1
GR - Grecia 1
HR - Croazia 1
HT - Haiti 1
HU - Ungheria 1
IS - Islanda 1
KG - Kirghizistan 1
KH - Cambogia 1
KW - Kuwait 1
KY - Cayman, isole 1
LV - Lettonia 1
LY - Libia 1
MG - Madagascar 1
MK - Macedonia 1
ML - Mali 1
MM - Myanmar 1
Totale 7.552
Salva come PNG Salva come JPEG
Città #
Singapore 810
Moscow 229
Hefei 195
Ashburn 176
Hong Kong 165
Chandler 130
Naples 124
Beijing 119
Santa Clara 91
Los Angeles 77
Amsterdam 72
Ho Chi Minh City 70
Boston 64
Munich 57
Millbury 56
Hanoi 54
Lawrence 54
Napoli 45
Redondo Beach 45
Jacksonville 37
Seoul 34
Buffalo 31
New York 29
Nuremberg 29
Wilmington 28
Dublin 27
São Paulo 27
Rome 25
Dallas 22
Turku 22
Vienna 19
Helsinki 18
Warsaw 18
Chicago 17
Frankfurt am Main 17
London 16
San Jose 16
Columbus 15
Mexico City 15
Princeton 15
The Dalles 15
Belo Horizonte 14
Orem 14
Rio de Janeiro 14
Seattle 14
Montreal 13
Brooklyn 12
Dong Ket 12
Haiphong 12
Poplar 12
Brasília 11
Falkenstein 11
Ottawa 11
Tokyo 11
Houston 10
Milan 10
Nanjing 10
Phoenix 10
Chennai 9
Da Nang 9
Denver 9
Guayaquil 9
Turin 9
Atlanta 8
Calgary 8
Fairfield 8
Johannesburg 8
Thái Nguyên 8
Biên Hòa 7
Council Bluffs 7
Ninh Bình 7
Seo-gu 7
Tianjin 7
Toronto 7
Zola Predosa 7
Des Moines 6
Hải Dương 6
Kochi 6
Lappeenranta 6
Norwalk 6
Pescara 6
Selargius 6
Washington 6
Bexley 5
Boardman 5
Catania 5
Caxias do Sul 5
Curitiba 5
Formia 5
Guarulhos 5
Jakarta 5
Manchester 5
Melbourne 5
Osasco 5
Paris 5
Richmond 5
Sorocaba 5
Stockholm 5
Asunción 4
Brussels 4
Totale 3.591
Salva come PNG Salva come JPEG
Nome #
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 404
A first update on mapping the human genetic architecture of COVID-19 254
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 235
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 160
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 158
The E3-Ubiquitin Ligase TRIM50 Interacts with HDAC6 and p62, and Promotes the Sequestration and Clearance of Ubiquitinated Proteins into the Aggresome. 152
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 136
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 130
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 127
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 121
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 120
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 120
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 119
Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas – a possible mechanism for altering the nm23-H1 activity. 114
HDAC6 mediates the acetylation of TRIM50 114
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness 113
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 112
Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors 109
Novel biallelic variants expand the phenotype of NAA20-related syndrome 108
Detection of TRIM50 interacting proteins through proteomic approaches 108
An explainable model of host genetic interactions linked to COVID-19 severity 106
TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways 105
Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women 104
WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. 97
Evidence for interaction between human PRUNE and nm23-H1 NDPKinase. 93
TRIM8 interacts with KIF11 and KIFC1 and controls bipolar spindle formation and chromosomal stability 93
A rare case of brachyolmia with amelogenesis imperfecta caused by a new pathogenic splicing variant in ltbp3 93
The tripartite motif family identifies cell compartments. 92
Absence of apolipoprotein B3500 mutation in type 2a hyperlipoproteinemia patients and in the general population from southern Italy. 92
Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains 88
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism 87
Copy number variants at Williams-Beuren syndrome 7q11.23 region. 87
DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of Cancers 85
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients 84
Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway? 84
Prevalence of apolipoprotein E alleles in healthy subjects and survivors of ischemic stroke: an Italian Case-Control Study 84
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene 83
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene 81
The tripartite motif family identifies cell compartments 79
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation 78
Identification of a dna methylation episignature in the 22q11.2 deletion syndrome 75
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies 73
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 70
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 69
Prevalence of apolipoprotein E alleles in healthy subjects and survivors of ischemic stroke: an Italian Case-Control Study. 68
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome 67
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants 64
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes 62
Hormonally upregulated neu tumor-associated kinase (HUNK) modulates gastric cancer progression through the regulation of cell homeostasis 61
Genetic mechanisms of critical illness in COVID-19 58
The ubiquitin ligase TRIM32 promotes the autophagic response to Mycobacterium tuberculosis infection in macrophages 57
AQP4 Aggregation State Is a Determinant for Glioma Cell Fate 57
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case 57
FOXI3 pathogenic variants cause one form of craniofacial microsomia 56
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus 54
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome 54
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes 52
The E3-Ubiquitin Ligase TRIM50 Interacts with HDAC6 and p62, and Promotes the Sequestration and Clearance of Ubiquitinated Proteins into the Aggresome 51
Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration 47
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome (Genetics in Medicine, (2020), 22, 5, (867-877), 10.1038/s41436-019-0743-3) 46
Deregulated expression of cryptochrome genes in human colorectal cancer 44
GNBS Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability 44
In Vitro Effects of Low-energy Ultrasound Treatment on Healthy CD3/CD8+ Lymphocytes, Red blood cells, Acute Myeloid leukemia cells, and Jurkat cell line 43
A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome 42
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 42
TRIM50 regulates Beclin 1 proautophagic activity 42
Identification of p53-target genes in Danio rerio 42
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 42
HDAC6 mediates the acetylation of TRIM50 42
Kabuki syndrome: international consensus diagnostic criteria 41
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development 41
Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1 41
DNA damage response defect in Williams-Beuren syndrome 40
Molecular genetics of Kabuki Syndrome 38
Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication 38
Dissecting KMT2D missense mutations in Kabuki syndrome patients 38
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks 37
Rise of TRIM8: A Molecule of Duality 37
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature 37
BH3 mimetic drugs overcome the microenvironment-induced resistance to crizotinib in ALK+ anaplastic large cell lymphoma 37
Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line. 36
Identification of a possible somatic BRCA1 mutation affecting translation efficiency in an early-onset sporadic breast cancer patient 36
Clock genes-dependent acetylation of complex I sets rhythmic activity of mitochondrial OxPhos 36
Clock-genes and mitochondrial respiratory activity: Evidence of a reciprocal interplay 36
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes 36
Ubiquitination, biotech startups, and the future of trim family proteins: A trim-endous opportunity 36
The genetic landscape of dystrophin mutations in Italy: a nationwide study 36
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case 35
MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences 35
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. 35
Molecular genetics of Williams-Beuren Syndrome 33
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum 33
The emerging role of Gβ subunits in human genetic diseases. 33
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene 32
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion 32
A Novel MED12 Mutation: Evidence for a Fourth Phenotype 32
Effect of diazoxide on Friedreich ataxia models 32
E3 Ubiquitin Ligase TRIM Proteins, Cell Cycle and Mitosis 31
Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature 31
DNA methylation in the diagnosis of monogenic diseases 31
Totale 7.492
Salva come PNG Salva come JPEG
Categoria #
all - tutte 26.973
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 26.973
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202169 0 0 0 0 0 0 12 1 28 1 13 14
2021/2022349 7 4 2 0 4 2 4 77 16 14 99 120
2022/2023444 70 27 13 11 42 39 6 40 70 70 40 16
2023/2024517 30 60 62 24 27 28 21 50 12 43 108 52
2024/20252.525 149 196 23 35 78 103 169 174 184 316 850 248
2025/20263.562 577 509 547 649 906 345 29 0 0 0 0 0
Totale 7.701