IRIS
MERLA, Giuseppe
 Distribuzione geografica
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Continente #
NA - Nord America 1.041
EU - Europa 603
AS - Asia 395
AF - Africa 35
OC - Oceania 3
SA - Sud America 3
Totale 2.080
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Nazione #
US - Stati Uniti d'America 1.027
SG - Singapore 318
IT - Italia 315
NL - Olanda 75
CN - Cina 54
DE - Germania 36
UA - Ucraina 36
IE - Irlanda 34
CI - Costa d'Avorio 31
RU - Federazione Russa 29
FI - Finlandia 27
FR - Francia 23
CA - Canada 14
VN - Vietnam 14
GB - Regno Unito 11
IN - India 4
AT - Austria 3
AU - Australia 3
BE - Belgio 3
CH - Svizzera 3
ES - Italia 3
AE - Emirati Arabi Uniti 2
BR - Brasile 2
CZ - Repubblica Ceca 2
KR - Corea 2
MA - Marocco 2
CL - Cile 1
GR - Grecia 1
NG - Nigeria 1
PK - Pakistan 1
PL - Polonia 1
RS - Serbia 1
SO - Somalia 1
Totale 2.080
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Città #
Singapore 269
Chandler 130
Santa Clara 82
Naples 73
Amsterdam 68
Ashburn 58
Millbury 56
Lawrence 54
Boston 53
Napoli 45
Jacksonville 36
Wilmington 27
Dublin 24
Beijing 16
Princeton 15
Moscow 13
Dong Ket 12
Rome 12
Los Angeles 10
Nanjing 10
Ottawa 10
Seattle 10
Munich 9
Fairfield 8
Helsinki 7
Zola Predosa 7
Norwalk 6
Selargius 6
Boardman 5
Catania 5
Council Bluffs 5
Des Moines 5
Formia 5
Turin 5
Grumo Appula 4
Lappeenranta 4
Nanchang 4
Nuremberg 4
Padova 4
Paris 4
Prineville 4
Washington 4
Basel 3
Chicago 3
Dallas 3
Kronberg 3
Melbourne 3
New York 3
Phoenix 3
Sandston 3
Sunnyvale 3
Acerra 2
Americana 2
Bergamo 2
Cancellara 2
Caserta 2
Casoria 2
Changsha 2
Dearborn 2
Dubai 2
Ercolano 2
Errachidia 2
Foggia 2
Houston 2
Jenera 2
Jiaxing 2
London 2
Marsicovetere 2
Merano 2
Milan 2
Modena 2
Oxford 2
Pompei 2
Portici 2
Redwood City 2
Retamar 2
Richmond 2
Salerno 2
Sezze 2
Shijiazhuang 2
Verona 2
Waanrode 2
Abbiategrasso 1
Athens 1
Aversa 1
Aviano 1
Belgrade 1
Bosaso 1
Brussels 1
Cambridge 1
Canegrate 1
Cassano Magnago 1
Changchun 1
Chengdu 1
Crispano 1
Downsview 1
Florence 1
Forio 1
Groningen 1
Guangzhou 1
Totale 1.295
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Nome #
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) 120
A first update on mapping the human genetic architecture of COVID-19 86
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 79
The E3-Ubiquitin Ligase TRIM50 Interacts with HDAC6 and p62, and Promotes the Sequestration and Clearance of Ubiquitinated Proteins into the Aggresome. 68
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 57
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 49
TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways 48
HDAC6 mediates the acetylation of TRIM50 47
Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas – a possible mechanism for altering the nm23-H1 activity. 43
Detection of TRIM50 interacting proteins through proteomic approaches 42
Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains 42
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 40
TRIM8 interacts with KIF11 and KIFC1 and controls bipolar spindle formation and chromosomal stability 40
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 36
Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women 35
Evidence for interaction between human PRUNE and nm23-H1 NDPKinase. 34
The tripartite motif family identifies cell compartments. 34
Copy number variants at Williams-Beuren syndrome 7q11.23 region. 34
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 32
Absence of apolipoprotein B3500 mutation in type 2a hyperlipoproteinemia patients and in the general population from southern Italy. 31
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 31
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 31
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness 30
WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. 30
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 30
Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway? 29
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene 28
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation 28
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene 28
The tripartite motif family identifies cell compartments 27
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies 27
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 25
Prevalence of apolipoprotein E alleles in healthy subjects and survivors of ischemic stroke: an Italian Case-Control Study 23
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 23
Genetic mechanisms of critical illness in COVID-19 23
Novel biallelic variants expand the phenotype of NAA20-related syndrome 22
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) 21
A rare case of brachyolmia with amelogenesis imperfecta caused by a new pathogenic splicing variant in ltbp3 21
AQP4 Aggregation State Is a Determinant for Glioma Cell Fate 20
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 19
Deregulated expression of cryptochrome genes in human colorectal cancer 19
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome 18
Clock-genes and mitochondrial respiratory activity: Evidence of a reciprocal interplay 18
Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1 18
Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors 17
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 17
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum 17
Ubiquitination, biotech startups, and the future of trim family proteins: A trim-endous opportunity 17
Identification of a dna methylation episignature in the 22q11.2 deletion syndrome 16
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks 15
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus 15
Clock genes-dependent acetylation of complex I sets rhythmic activity of mitochondrial OxPhos 15
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development 15
The ubiquitin ligase TRIM32 promotes the autophagic response to Mycobacterium tuberculosis infection in macrophages 14
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes 14
DNA methylation in the diagnosis of monogenic diseases 14
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature 14
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism 13
Identification of a possible somatic BRCA1 mutation affecting translation efficiency in an early-onset sporadic breast cancer patient 13
Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration 13
MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences 13
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes 12
DNA damage response defect in Williams-Beuren syndrome 12
Rise of TRIM8: A Molecule of Duality 12
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case 12
FOXI3 pathogenic variants cause one form of craniofacial microsomia 11
An explainable model of host genetic interactions linked to COVID-19 severity 11
Prevalence of apolipoprotein E alleles in healthy subjects and survivors of ischemic stroke: an Italian Case-Control Study. 11
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion 11
TRIM50 regulates Beclin 1 proautophagic activity 11
Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication 11
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome 11
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 11
DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of Cancers 10
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants 10
Kabuki syndrome: international consensus diagnostic criteria 10
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. 10
MOLECULAR APPROACHES TO STUDY GENOTYPE-PHENOTYPE IN CONTIGUOUS GENE DISORDERS, THE EXAMPLE OF WILLIAMS BEUREN SYNDROME 10
The epileptology of GNB5 encephalopathy 10
Effect of diazoxide on Friedreich ataxia models 10
The genetic landscape of dystrophin mutations in Italy: a nationwide study 10
Dissecting KMT2D missense mutations in Kabuki syndrome patients 10
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 9
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene 9
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case 9
A Novel MED12 Mutation: Evidence for a Fourth Phenotype 9
E3 Ubiquitin Ligase TRIM Proteins, Cell Cycle and Mitosis 9
Molecular genetics of Kabuki Syndrome 9
Identification of p53-target genes in Danio rerio 9
The emerging role of Gβ subunits in human genetic diseases. 9
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients 8
GNBS Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability 8
Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants 8
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. 8
Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature 7
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes 6
Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder 6
DPP6 gene disruption in a family with Gilles de la Tourette syndrome 6
In Vitro Effects of Low-energy Ultrasound Treatment on Healthy CD3/CD8+ Lymphocytes, Red blood cells, Acute Myeloid leukemia cells, and Jurkat cell line 5
Molecular genetics of Williams-Beuren Syndrome 5
Totale 2.203
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Categoria #
all - tutte 13.664
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 13.664
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202045 0 0 0 0 0 0 5 1 6 12 11 10
2020/2021117 0 7 14 7 9 11 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
2024/2025594 149 196 23 35 78 103 10 0 0 0 0 0
Totale 2.208