IRIS
Novelli, Antonio
 Distribuzione geografica
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Continente #
NA - Nord America 7.356
AS - Asia 6.599
EU - Europa 2.542
SA - Sud America 1.987
Continente sconosciuto - Info sul continente non disponibili 511
AF - Africa 292
OC - Oceania 4
Totale 19.291
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Nazione #
US - Stati Uniti d'America 6.759
SG - Singapore 2.027
IT - Italia 1.987
BR - Brasile 1.475
BD - Bangladesh 1.405
CN - Cina 1.116
HK - Hong Kong 751
VN - Vietnam 334
CA - Canada 219
IN - India 219
MX - Messico 217
AR - Argentina 160
TR - Turchia 100
GB - Regno Unito 95
IQ - Iraq 91
CO - Colombia 84
EC - Ecuador 80
ID - Indonesia 80
ZA - Sudafrica 77
RU - Federazione Russa 70
PK - Pakistan 69
VE - Venezuela 63
DE - Germania 61
SA - Arabia Saudita 57
FR - Francia 53
NL - Olanda 53
PH - Filippine 49
MA - Marocco 48
UA - Ucraina 41
MY - Malesia 40
CL - Cile 39
TN - Tunisia 39
JM - Giamaica 34
ES - Italia 32
UZ - Uzbekistan 28
PY - Paraguay 27
CR - Costa Rica 26
AE - Emirati Arabi Uniti 24
EG - Egitto 24
NP - Nepal 22
JO - Giordania 21
PE - Perù 21
AZ - Azerbaigian 20
KE - Kenya 19
UY - Uruguay 18
HN - Honduras 17
BO - Bolivia 16
ET - Etiopia 15
DZ - Algeria 14
TT - Trinidad e Tobago 14
BE - Belgio 13
IL - Israele 13
TH - Thailandia 13
CZ - Repubblica Ceca 12
GT - Guatemala 12
JP - Giappone 12
KG - Kirghizistan 12
LB - Libano 12
NI - Nicaragua 12
OM - Oman 11
PL - Polonia 11
KZ - Kazakistan 10
RS - Serbia 10
PS - Palestinian Territory 9
AL - Albania 8
EE - Estonia 8
IE - Irlanda 8
KR - Corea 8
PT - Portogallo 8
SV - El Salvador 8
TW - Taiwan 8
CH - Svizzera 7
DO - Repubblica Dominicana 7
PR - Porto Rico 7
SN - Senegal 7
BY - Bielorussia 6
LY - Libia 6
NG - Nigeria 6
PA - Panama 6
SI - Slovenia 6
DK - Danimarca 5
HU - Ungheria 5
KW - Kuwait 5
RO - Romania 5
AT - Austria 4
BA - Bosnia-Erzegovina 4
BH - Bahrain 4
GE - Georgia 4
GR - Grecia 4
KH - Cambogia 4
MU - Mauritius 4
QA - Qatar 4
RE - Reunion 4
SE - Svezia 4
SY - Repubblica araba siriana 4
AM - Armenia 3
AU - Australia 3
BB - Barbados 3
BG - Bulgaria 3
CW - ???statistics.table.value.countryCode.CW??? 3
Totale 18.705
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Città #
San Jose 2.498
Ashburn 1.214
Singapore 1.046
Hong Kong 737
Beijing 568
Council Bluffs 509
Santa Clara 300
Rome 254
Milan 212
New York 180
Mexico City 175
Ho Chi Minh City 130
Naples 121
São Paulo 112
Los Angeles 97
Buffalo 74
Hanoi 74
Dallas 60
Figino 52
Turin 52
Bologna 51
Palermo 49
Toronto 46
Phoenix 44
Dhaka 43
Rio de Janeiro 43
Bari 38
Baghdad 37
Florence 36
Istanbul 36
Chicago 35
Belo Horizonte 33
Brasília 30
Catania 30
Orem 29
Porto Alegre 28
Quito 28
Verona 27
Curitiba 26
Montreal 25
Riyadh 25
Medellín 24
Tashkent 24
Johannesburg 23
Mumbai 23
Campinas 22
Genoa 22
Kingston 22
Amman 20
Salvador 20
Santiago 20
Brooklyn 19
Caracas 19
Las Vegas 19
Queens 19
San José 19
Guayaquil 18
Miami 18
Philadelphia 18
Kuala Lumpur 17
Montevideo 17
Nairobi 17
Seattle 17
Baku 16
Casablanca 16
Chennai 16
Houston 16
Jeddah 16
The Dalles 16
Venice 16
Atlanta 15
Cagliari 15
Cape Town 15
Charlotte 15
Goiânia 15
Haiphong 15
Jakarta 15
Brescia 14
Buenos Aires 14
London 14
Tunis 14
Karachi 13
Lahore 13
Padua 13
Addis Ababa 12
Lima 12
Managua 12
Osasco 12
Shanghai 12
Washington 12
Asunción 11
Bogotá 11
Cairo 11
Delhi 11
Fortaleza 11
Perugia 11
Petaling Jaya 11
Sorocaba 11
São Bernardo do Campo 11
The Bronx 11
Totale 10.135
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Nome #
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders 437
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene 158
Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype-phenotype correlation 124
7q11.23 microduplication syndrome: Clinical and neurobehavioral profiling 114
9q34.3 microduplications lead to Neurodevelopmental Disorders through EHMT1 overexpression 113
Novel Genetic Variant in HUWE1: Prenatal and Postnatal Neuroimaging Phenotype 102
Non-Invasive Prenatal Test Analysis Opens a Pandora’s Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome 92
Diagnostic accuracy of cell-free fetal DNA in maternal blood in detecting chromosomal anomalies in twin pregnancy: systematic review and meta-analysis 91
De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation 90
6p25 Interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder 84
Prenatal CFAP53-related laterality defect: case report and review of the literature 84
Intractable diarrhea in infancy and molecular analysis: We are beyond the tip of the iceberg 82
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe 82
A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients 81
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports 80
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 80
A New Variant in the GATA6 Gene Associated with Tracheoesophageal Fistula, Pulmonary Vein Stenosis, and Neonatal Diabetes 77
Evaluation of relative radiometric correction techniques on Landsat 8 OLI sensor data 77
Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants—differential diagnosis and recommendation for biochemical and genetic screening 75
Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2 75
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias 73
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort 72
A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum 72
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports 71
Exploring the Clinical Spectrum of HUWE1-Related Neurodevelopmental Disorder: Five New Patients and Literature Review 70
3q29 Microdeletion: A mental Retardation Disorder Unassociated With a Recognizable Phenotype in Two Mother-Daughter Pairs 69
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability 68
Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review 68
Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome 67
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation 66
Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports (Frontiers in Psychiatry, (2024), 14, (1327802), 10.3389/fpsyt.2023.1327802) 65
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review 64
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 63
Cantù syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants 62
Microcephalic osteodysplastic primordial dwarfism typeIIand pachygyria: Morphometric analysis in a 2-year-old girl 62
2q31.2q32.3 Deletion Syndrome: Report of an Adult Patient 61
Two Novel Biallelic Variants in the FARSA Gene: The First Italian Case and a Literature Review 61
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology 60
When embryology meets genetics: the definition of developmentally incompetent preimplantation embryos (DIPE)-the consensus of two Italian scientific societies 60
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 60
Gene Set Enrichment Analysis of Interaction Networks Weighted by Node Centrality 59
Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease 57
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome 57
Deciphering Genetic Variants of Warfarin Metabolism in Children With Ventricular Assist Devices 57
Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis 57
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis 57
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome 57
A bottom-up spatially explicit methodology to estimate the space heating demand of the building stock at regional scale 56
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants 56
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization 56
Autoantibodies against type I IFNs in patients with life-threatening COVID-19 55
Congenital heart defects in molecularly confirmed KBG syndrome patients 55
Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report 55
A De Novo CaSR Missense Variant in Combination with Two Inherited Missense Variants in CFTR and SPINK1 Detected in a Patient with Chronic Pancreatitis 55
Object-based greenhouse mapping using very high resolution satellite data and Landsat 8 time series 55
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies 55
TBX2 Gene Duplication Associated With Complex Heart Defect and Skeletal Malformations 54
Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency 54
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1 54
Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases 54
Neonatal diagnosis of ACTA2-related disease: A case report and review of literature 53
A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease 53
Donor Splice-Site Mutation in CUL4B is Likely Cause of X-Linked Intellectual Disability 53
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration 53
A case report on filamin A gene mutation and progressive pulmonary disease in an infant A lung tissued derived mesenchymal stem cell study 52
Androgen insensitivity syndrome (or Morris syndrome) and other associated pathologies 52
16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer 52
The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect 52
Prevalence of copy number variants (CNVs) and rhGH treatment efficacy in an Italian cohort of children born small for gestational age (SGA) with persistent short stature associated with a complex clinical phenotype 52
Homozygous Deletion in TUSC3 Causing Syndromic Intellectual Disability: A New Patient 51
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype 51
Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations 51
A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report 50
Optical Genome Mapping: where molecular techniques give up 50
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients 50
Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an “ultrasound first” approach 50
Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation 50
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy 50
15q11.2 microdeletion and hypoplastic left heart syndrome 49
Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy 49
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism 49
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review 49
Autoantibodies against type I IFNs in patients with critical influenza pneumonia 48
Identification of a robust DNA methylation signature for Fanconi anemia 48
1p36 deletion syndrome and the aorta: A report of three new patients and a literature review 48
Thromboembolism after COVID-19 vaccine in patients with preexisting thrombocytopenia 47
SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease? 47
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region 47
Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Examinations 47
335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features 47
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 46
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 45
Inhibition of HECT E3 ligases as potential therapy for COVID-19 45
A Previously Undescribed De Novo 4p15 Deletion in a Patient With Apparently Isolated Metopic Craniosynostosis 45
Myoclonic Encephalopathy in 9q33-q34 Deletion Encompassing STXBP1 and SPTAN1 45
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders 45
3q27.3 microdeletional syndrome: A recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder 45
Whole exome sequencing in fetuses with isolated increased nuchal translucency: a systematic review and meta-analysis 45
17p13.1 Microdeletion: Genetic and Clinical Findings in a New Patient With Epilepsy and Comparison With Literature 45
Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: Delineation of cerebro-dermato-osseous-dysplasia 45
Totale 6.578
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Categoria #
all - tutte 78.546
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 78.546
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2024/20253.014 0 0 0 8 65 75 144 559 163 242 880 878
2025/202612.384 467 58 629 702 1.013 671 1.106 561 2.396 1.482 1.726 1.573
2026/20273.893 469 767 1.365 1.292 0 0 0 0 0 0 0 0
Totale 19.291