IRIS
MERLA, Giuseppe
 Distribuzione geografica
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Continente #
AS - Asia 3.958
NA - Nord America 3.343
EU - Europa 2.604
SA - Sud America 596
Continente sconosciuto - Info sul continente non disponibili 142
AF - Africa 117
OC - Oceania 15
Totale 10.775
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Nazione #
US - Stati Uniti d'America 3.175
SG - Singapore 1.811
RU - Federazione Russa 1.023
VN - Vietnam 781
IT - Italia 720
CN - Cina 654
BR - Brasile 476
HK - Hong Kong 207
DE - Germania 180
FR - Francia 153
NL - Olanda 136
CA - Canada 81
GB - Regno Unito 81
JP - Giappone 75
IN - India 74
BD - Bangladesh 71
FI - Finlandia 67
KR - Corea 62
UA - Ucraina 49
AR - Argentina 46
IE - Irlanda 43
AT - Austria 40
MX - Messico 39
CI - Costa d'Avorio 33
ID - Indonesia 28
PH - Filippine 28
ZA - Sudafrica 28
TH - Thailandia 27
PL - Polonia 25
TR - Turchia 20
EC - Ecuador 19
IQ - Iraq 18
ES - Italia 17
PK - Pakistan 15
CO - Colombia 14
AU - Australia 13
EG - Egitto 13
CR - Costa Rica 12
TW - Taiwan 12
BE - Belgio 11
SA - Arabia Saudita 11
JM - Giamaica 10
CH - Svizzera 9
SE - Svezia 9
AE - Emirati Arabi Uniti 8
LT - Lituania 8
MA - Marocco 8
NP - Nepal 8
PE - Perù 8
VE - Venezuela 8
CL - Cile 7
HN - Honduras 7
PY - Paraguay 7
MY - Malesia 6
CZ - Repubblica Ceca 5
JO - Giordania 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
TT - Trinidad e Tobago 4
UZ - Uzbekistan 4
AL - Albania 3
AZ - Azerbaigian 3
BB - Barbados 3
BY - Bielorussia 3
KE - Kenya 3
KZ - Kazakistan 3
AM - Armenia 2
BF - Burkina Faso 2
BG - Bulgaria 2
DK - Danimarca 2
ET - Etiopia 2
GE - Georgia 2
GR - Grecia 2
HR - Croazia 2
HU - Ungheria 2
IL - Israele 2
LV - Lettonia 2
LY - Libia 2
NG - Nigeria 2
NI - Nicaragua 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
BZ - Belize 1
CD - Congo 1
CY - Cipro 1
GH - Ghana 1
GM - Gambi 1
GN - Guinea 1
GT - Guatemala 1
Totale 10.605
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Città #
Singapore 905
San Jose 562
Ashburn 354
Moscow 229
Ho Chi Minh City 208
Hefei 195
Hong Kong 195
Hanoi 181
Naples 145
Beijing 136
Chandler 130
Council Bluffs 113
Santa Clara 109
Los Angeles 98
The Dalles 96
Lauterbourg 93
Amsterdam 78
Boston 66
Tokyo 64
Munich 57
Millbury 56
New York 56
Lawrence 54
Phoenix 54
Buffalo 45
Napoli 45
Redondo Beach 45
Frankfurt am Main 41
São Paulo 40
Rome 38
Jacksonville 37
Haiphong 36
Dallas 35
Seoul 34
Wilmington 30
Dublin 29
Nuremberg 29
Chicago 27
Milan 27
Da Nang 25
Orem 24
Turku 22
Vienna 21
Helsinki 20
London 19
Warsaw 18
Biên Hòa 17
Montreal 17
Atlanta 16
Brooklyn 16
Columbus 16
Mexico City 16
Princeton 16
Seattle 16
Belo Horizonte 15
Rio de Janeiro 15
Denver 13
Houston 13
Chennai 12
Dong Ket 12
Hải Dương 12
Johannesburg 12
Poplar 12
Brasília 11
Falkenstein 11
Ninh Bình 11
Ottawa 11
Toronto 11
Turin 11
Nanjing 10
Can Tho 9
Guayaquil 9
San Francisco 9
San José 9
Thái Nguyên 9
Bangkok 8
Calgary 8
Fairfield 8
Lappeenranta 8
Manchester 8
Paris 8
Pescara 8
Richmond 8
Washington 8
Boardman 7
Des Moines 7
Kochi 7
Melbourne 7
Salt Lake City 7
Seo-gu 7
Tianjin 7
Zola Predosa 7
Baghdad 6
Cairo 6
Curitiba 6
Guangzhou 6
Jeddah 6
Kingston 6
Lahore 6
New Delhi 6
Totale 5.464
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Nome #
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 680
A first update on mapping the human genetic architecture of COVID-19 346
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 295
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 239
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 197
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 181
The E3-Ubiquitin Ligase TRIM50 Interacts with HDAC6 and p62, and Promotes the Sequestration and Clearance of Ubiquitinated Proteins into the Aggresome. 181
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 177
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 175
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 174
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 167
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 166
An explainable model of host genetic interactions linked to COVID-19 severity 164
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness 148
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 146
Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors 142
Novel biallelic variants expand the phenotype of NAA20-related syndrome 142
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 142
Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women 141
Detection of TRIM50 interacting proteins through proteomic approaches 137
HDAC6 mediates the acetylation of TRIM50 137
Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas – a possible mechanism for altering the nm23-H1 activity. 130
TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways 129
Evidence for interaction between human PRUNE and nm23-H1 NDPKinase. 128
TRIM8 interacts with KIF11 and KIFC1 and controls bipolar spindle formation and chromosomal stability 123
Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains 121
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients 120
Absence of apolipoprotein B3500 mutation in type 2a hyperlipoproteinemia patients and in the general population from southern Italy. 120
A rare case of brachyolmia with amelogenesis imperfecta caused by a new pathogenic splicing variant in ltbp3 119
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism 118
WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. 114
The tripartite motif family identifies cell compartments. 112
DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of Cancers 110
Copy number variants at Williams-Beuren syndrome 7q11.23 region. 107
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene 107
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome 106
Prevalence of apolipoprotein E alleles in healthy subjects and survivors of ischemic stroke: an Italian Case-Control Study 104
Identification of a dna methylation episignature in the 22q11.2 deletion syndrome 103
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies 101
The tripartite motif family identifies cell compartments 100
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation 99
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene 97
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 97
Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway? 97
Hormonally upregulated neu tumor-associated kinase (HUNK) modulates gastric cancer progression through the regulation of cell homeostasis 92
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 92
Prevalence of apolipoprotein E alleles in healthy subjects and survivors of ischemic stroke: an Italian Case-Control Study. 91
FOXI3 pathogenic variants cause one form of craniofacial microsomia 86
Genetic mechanisms of critical illness in COVID-19 86
A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome 83
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus 83
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants 80
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes 78
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case 78
BH3 mimetic drugs overcome the microenvironment-induced resistance to crizotinib in ALK+ anaplastic large cell lymphoma 76
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes 75
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome 73
The E3-Ubiquitin Ligase TRIM50 Interacts with HDAC6 and p62, and Promotes the Sequestration and Clearance of Ubiquitinated Proteins into the Aggresome 72
AQP4 Aggregation State Is a Determinant for Glioma Cell Fate 72
In Vitro Effects of Low-energy Ultrasound Treatment on Healthy CD3/CD8+ Lymphocytes, Red blood cells, Acute Myeloid leukemia cells, and Jurkat cell line 70
Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration 69
A Novel MED12 Mutation: Evidence for a Fourth Phenotype 68
The ubiquitin ligase TRIM32 promotes the autophagic response to Mycobacterium tuberculosis infection in macrophages 67
Deregulated expression of cryptochrome genes in human colorectal cancer 66
TRIM50 regulates Beclin 1 proautophagic activity 65
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 65
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) 64
The dynamic role of TRIM8, a novel ciliary protein, during various stages of mitosis 63
HDAC6 mediates the acetylation of TRIM50 63
E3 Ubiquitin Ligase TRIM Proteins, Cell Cycle and Mitosis 62
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 62
GNBS Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability 61
MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences 61
Kabuki syndrome: international consensus diagnostic criteria 60
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case 59
Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature 59
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development 59
Identification of p53-target genes in Danio rerio 59
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene 58
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes 57
Ubiquitination, biotech startups, and the future of trim family proteins: A trim-endous opportunity 57
Clock genes-dependent acetylation of complex I sets rhythmic activity of mitochondrial OxPhos 56
DNA damage response defect in Williams-Beuren syndrome 56
Dissecting KMT2D missense mutations in Kabuki syndrome patients 56
Molecular genetics of Kabuki Syndrome 55
Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication 55
The epileptology of GNB5 encephalopathy 54
Clock-genes and mitochondrial respiratory activity: Evidence of a reciprocal interplay 54
Identification of a possible somatic BRCA1 mutation affecting translation efficiency in an early-onset sporadic breast cancer patient 52
DNA methylation in the diagnosis of monogenic diseases 52
Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1 52
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. 50
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum 50
Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants 50
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. 50
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature 50
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion 49
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks 48
Rise of TRIM8: A Molecule of Duality 48
The emerging role of Gβ subunits in human genetic diseases. 48
Totale 10.415
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Categoria #
all - tutte 36.382
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 36.382
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022338 0 0 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
2025/20266.009 577 509 547 649 906 345 649 424 736 329 155 183
2026/2027627 162 246 219 0 0 0 0 0 0 0 0 0
Totale 10.775