IRIS
MERLA, Giuseppe
 Distribuzione geografica
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Continente #
AS - Asia 3.891
NA - Nord America 2.752
EU - Europa 2.522
SA - Sud America 578
AF - Africa 117
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 1
Totale 9.876
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Nazione #
US - Stati Uniti d'America 2.624
SG - Singapore 1.808
RU - Federazione Russa 1.023
VN - Vietnam 779
IT - Italia 647
CN - Cina 645
BR - Brasile 463
HK - Hong Kong 204
DE - Germania 180
FR - Francia 153
NL - Olanda 133
GB - Regno Unito 80
IN - India 72
JP - Giappone 70
FI - Finlandia 67
CA - Canada 66
KR - Corea 62
UA - Ucraina 49
AR - Argentina 45
IE - Irlanda 43
AT - Austria 40
MX - Messico 38
BD - Bangladesh 35
CI - Costa d'Avorio 33
ZA - Sudafrica 28
PH - Filippine 27
TH - Thailandia 27
ID - Indonesia 26
PL - Polonia 25
TR - Turchia 20
EC - Ecuador 18
IQ - Iraq 18
ES - Italia 17
PK - Pakistan 15
AU - Australia 13
CO - Colombia 13
EG - Egitto 13
TW - Taiwan 12
SA - Arabia Saudita 11
BE - Belgio 10
SE - Svezia 9
CH - Svizzera 8
LT - Lituania 8
MA - Marocco 8
NP - Nepal 8
PE - Perù 8
AE - Emirati Arabi Uniti 7
PY - Paraguay 7
VE - Venezuela 7
CL - Cile 6
JM - Giamaica 6
CZ - Repubblica Ceca 5
JO - Giordania 5
MY - Malesia 5
UY - Uruguay 5
BO - Bolivia 4
DO - Repubblica Dominicana 4
DZ - Algeria 4
IR - Iran 4
LB - Libano 4
SO - Somalia 4
TN - Tunisia 4
UZ - Uzbekistan 4
AZ - Azerbaigian 3
BY - Bielorussia 3
CR - Costa Rica 3
HN - Honduras 3
KE - Kenya 3
KZ - Kazakistan 3
TT - Trinidad e Tobago 3
AL - Albania 2
AM - Armenia 2
BB - Barbados 2
BF - Burkina Faso 2
BG - Bulgaria 2
DK - Danimarca 2
ET - Etiopia 2
GR - Grecia 2
HU - Ungheria 2
IL - Israele 2
LV - Lettonia 2
LY - Libia 2
NG - Nigeria 2
NZ - Nuova Zelanda 2
PS - Palestinian Territory 2
SI - Slovenia 2
AF - Afghanistan, Repubblica islamica di 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BW - Botswana 1
CD - Congo 1
CY - Cipro 1
GE - Georgia 1
GH - Ghana 1
GM - Gambi 1
GN - Guinea 1
GY - Guiana 1
HR - Croazia 1
HT - Haiti 1
IS - Islanda 1
Totale 9.853
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Città #
Singapore 903
San Jose 408
Ashburn 277
Moscow 229
Ho Chi Minh City 207
Hefei 195
Hong Kong 193
Hanoi 181
Naples 140
Beijing 134
Chandler 130
Santa Clara 98
The Dalles 94
Lauterbourg 93
Los Angeles 91
Amsterdam 78
Boston 65
Tokyo 62
Munich 57
Millbury 56
Lawrence 54
New York 50
Napoli 45
Redondo Beach 45
Council Bluffs 42
Frankfurt am Main 41
Buffalo 39
Jacksonville 37
Haiphong 36
Seoul 34
Dallas 30
São Paulo 30
Dublin 29
Nuremberg 29
Rome 29
Wilmington 28
Da Nang 25
Chicago 23
Orem 22
Turku 22
Vienna 21
Helsinki 20
London 19
Warsaw 18
Biên Hòa 17
Columbus 16
Mexico City 16
Montreal 16
Belo Horizonte 15
Brooklyn 15
Princeton 15
Rio de Janeiro 15
Milan 14
Seattle 14
Atlanta 13
Phoenix 13
Chennai 12
Dong Ket 12
Houston 12
Hải Dương 12
Johannesburg 12
Poplar 12
Brasília 11
Denver 11
Falkenstein 11
Ninh Bình 11
Ottawa 11
Nanjing 10
Toronto 10
Can Tho 9
Guayaquil 9
Thái Nguyên 9
Turin 9
Bangkok 8
Calgary 8
Fairfield 8
Lappeenranta 8
Paris 8
Washington 8
Boardman 7
Des Moines 7
Kochi 7
Manchester 7
Melbourne 7
Pescara 7
Seo-gu 7
Tianjin 7
Zola Predosa 7
Baghdad 6
Cairo 6
Curitiba 6
Guangzhou 6
Jeddah 6
Lahore 6
New Delhi 6
Norwalk 6
Richmond 6
San Francisco 6
Selargius 6
Stockholm 6
Totale 5.004
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Nome #
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 633
A first update on mapping the human genetic architecture of COVID-19 314
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 273
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 194
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 193
The E3-Ubiquitin Ligase TRIM50 Interacts with HDAC6 and p62, and Promotes the Sequestration and Clearance of Ubiquitinated Proteins into the Aggresome. 177
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 172
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 171
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 164
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 162
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 161
An explainable model of host genetic interactions linked to COVID-19 severity 159
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness 142
Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors 139
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 137
Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women 137
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 136
HDAC6 mediates the acetylation of TRIM50 134
Detection of TRIM50 interacting proteins through proteomic approaches 132
Novel biallelic variants expand the phenotype of NAA20-related syndrome 130
Evidence for interaction between human PRUNE and nm23-H1 NDPKinase. 124
Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas – a possible mechanism for altering the nm23-H1 activity. 124
TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways 119
TRIM8 interacts with KIF11 and KIFC1 and controls bipolar spindle formation and chromosomal stability 118
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism 115
A rare case of brachyolmia with amelogenesis imperfecta caused by a new pathogenic splicing variant in ltbp3 114
Absence of apolipoprotein B3500 mutation in type 2a hyperlipoproteinemia patients and in the general population from southern Italy. 111
Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains 110
WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. 108
The tripartite motif family identifies cell compartments. 107
DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of Cancers 104
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients 104
Copy number variants at Williams-Beuren syndrome 7q11.23 region. 104
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene 101
Prevalence of apolipoprotein E alleles in healthy subjects and survivors of ischemic stroke: an Italian Case-Control Study 100
Identification of a dna methylation episignature in the 22q11.2 deletion syndrome 99
The tripartite motif family identifies cell compartments 97
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene 96
Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway? 95
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation 95
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies 91
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome 87
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 86
Hormonally upregulated neu tumor-associated kinase (HUNK) modulates gastric cancer progression through the regulation of cell homeostasis 85
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 83
Prevalence of apolipoprotein E alleles in healthy subjects and survivors of ischemic stroke: an Italian Case-Control Study. 83
Genetic mechanisms of critical illness in COVID-19 78
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes 75
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants 75
A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome 72
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus 72
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case 72
The E3-Ubiquitin Ligase TRIM50 Interacts with HDAC6 and p62, and Promotes the Sequestration and Clearance of Ubiquitinated Proteins into the Aggresome 69
FOXI3 pathogenic variants cause one form of craniofacial microsomia 69
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes 68
AQP4 Aggregation State Is a Determinant for Glioma Cell Fate 68
BH3 mimetic drugs overcome the microenvironment-induced resistance to crizotinib in ALK+ anaplastic large cell lymphoma 68
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome 66
The ubiquitin ligase TRIM32 promotes the autophagic response to Mycobacterium tuberculosis infection in macrophages 65
A Novel MED12 Mutation: Evidence for a Fourth Phenotype 64
Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration 64
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 61
Deregulated expression of cryptochrome genes in human colorectal cancer 60
HDAC6 mediates the acetylation of TRIM50 60
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) 59
The dynamic role of TRIM8, a novel ciliary protein, during various stages of mitosis 57
E3 Ubiquitin Ligase TRIM Proteins, Cell Cycle and Mitosis 57
GNBS Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability 57
TRIM50 regulates Beclin 1 proautophagic activity 57
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development 56
Kabuki syndrome: international consensus diagnostic criteria 55
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case 55
Identification of p53-target genes in Danio rerio 55
DNA damage response defect in Williams-Beuren syndrome 54
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 54
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene 53
In Vitro Effects of Low-energy Ultrasound Treatment on Healthy CD3/CD8+ Lymphocytes, Red blood cells, Acute Myeloid leukemia cells, and Jurkat cell line 52
Clock genes-dependent acetylation of complex I sets rhythmic activity of mitochondrial OxPhos 52
Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature 52
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes 52
Molecular genetics of Kabuki Syndrome 51
MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences 51
Ubiquitination, biotech startups, and the future of trim family proteins: A trim-endous opportunity 51
The epileptology of GNB5 encephalopathy 50
Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication 50
Identification of a possible somatic BRCA1 mutation affecting translation efficiency in an early-onset sporadic breast cancer patient 49
Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1 49
Dissecting KMT2D missense mutations in Kabuki syndrome patients 49
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. 48
Clock-genes and mitochondrial respiratory activity: Evidence of a reciprocal interplay 48
Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants 48
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature 47
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks 46
DNA methylation in the diagnosis of monogenic diseases 46
Rise of TRIM8: A Molecule of Duality 45
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. 45
A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient 45
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum 44
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion 43
Totale 9.695
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Categoria #
all - tutte 31.722
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 31.722
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202114 0 0 0 0 0 0 0 0 0 0 0 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
2025/20265.878 577 509 547 649 906 345 649 424 736 329 155 52
Totale 10.017