CINECA IRIS Institutional Research Information System

CARLI, Diana
 Distribuzione geografica
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Continente #
NA - Nord America 3.198
AS - Asia 2.888
EU - Europa 2.575
SA - Sud America 543
AF - Africa 69
OC - Oceania 50
Continente sconosciuto - Info sul continente non disponibili 1
Totale 9.324
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Nazione #
US - Stati Uniti d'America 3.085
SG - Singapore 1.196
IT - Italia 1.122
CN - Cina 747
BR - Brasile 425
DE - Germania 252
VN - Vietnam 228
IE - Irlanda 225
SE - Svezia 188
KR - Corea 168
GB - Regno Unito 136
HK - Hong Kong 131
FR - Francia 124
IN - India 114
FI - Finlandia 109
NL - Olanda 97
ES - Italia 75
CA - Canada 66
JP - Giappone 61
AR - Argentina 56
TR - Turchia 53
ID - Indonesia 40
AU - Australia 39
RU - Federazione Russa 38
AT - Austria 36
MX - Messico 28
PL - Polonia 27
BD - Bangladesh 26
UA - Ucraina 25
ZA - Sudafrica 24
CH - Svizzera 20
DK - Danimarca 20
IL - Israele 19
CO - Colombia 18
AE - Emirati Arabi Uniti 16
EC - Ecuador 15
IQ - Iraq 13
RO - Romania 13
BE - Belgio 12
NZ - Nuova Zelanda 11
CZ - Repubblica Ceca 8
MY - Malesia 8
PK - Pakistan 8
VE - Venezuela 8
CL - Cile 7
MA - Marocco 7
NO - Norvegia 7
PY - Paraguay 7
EG - Egitto 6
GR - Grecia 6
NG - Nigeria 6
PH - Filippine 6
PT - Portogallo 6
SA - Arabia Saudita 6
UZ - Uzbekistan 6
BA - Bosnia-Erzegovina 5
BG - Bulgaria 5
TH - Thailandia 5
AZ - Azerbaigian 4
CR - Costa Rica 4
JO - Giordania 4
KZ - Kazakistan 4
LV - Lettonia 4
NP - Nepal 4
SI - Slovenia 4
TN - Tunisia 4
UY - Uruguay 4
AM - Armenia 3
CI - Costa d'Avorio 3
DO - Repubblica Dominicana 3
ET - Etiopia 3
HU - Ungheria 3
NI - Nicaragua 3
PA - Panama 3
PE - Perù 3
PS - Palestinian Territory 3
RS - Serbia 3
SN - Senegal 3
DZ - Algeria 2
IR - Iran 2
JM - Giamaica 2
KE - Kenya 2
KW - Kuwait 2
LT - Lituania 2
OM - Oman 2
SY - Repubblica araba siriana 2
TG - Togo 2
BB - Barbados 1
BN - Brunei Darussalam 1
BW - Botswana 1
CD - Congo 1
CG - Congo 1
CU - Cuba 1
EE - Estonia 1
HN - Honduras 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LK - Sri Lanka 1
ME - Montenegro 1
MG - Madagascar 1
Totale 9.315
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Città #
Singapore 702
Chandler 350
Santa Clara 313
Ashburn 297
Turin 226
Beijing 213
Dublin 197
Seoul 154
Hefei 131
Torino 121
Munich 119
Hong Kong 110
San Jose 98
Rome 77
Ho Chi Minh City 75
Fairfield 70
Columbus 69
Los Angeles 69
Nyköping 63
Milan 60
Ann Arbor 59
Houston 57
Bengaluru 52
Hanoi 50
The Dalles 47
Princeton 46
Buffalo 43
Dallas 43
Medford 41
New York 41
São Paulo 41
Helsinki 40
Turku 39
Naples 35
Seattle 34
Wilmington 32
Jakarta 29
Redwood City 29
Redondo Beach 27
Hangzhou 26
Istanbul 26
Tokyo 26
Boston 23
Cambridge 23
Dong Ket 23
London 23
Frankfurt am Main 22
Boardman 21
Lappeenranta 20
Nuremberg 20
Hebei 19
Montreal 19
Shanghai 19
Woodbridge 19
Genoa 17
Guangzhou 17
Lauterbourg 17
San Diego 17
Jacksonville 16
Fremont 15
Nanjing 15
Sydney 15
Vienna 15
Brooklyn 14
Paris 14
Ankara 13
Barcelona 13
Dearborn 13
Denver 13
Edinburgh 13
Mexico City 13
Brisbane 12
Chengdu 12
Madrid 12
Orem 12
Porto Alegre 12
Amsterdam 11
Council Bluffs 11
Curitiba 11
Florence 11
Juiz de Fora 11
Toronto 11
Buenos Aires 10
Dhaka 10
Norwalk 10
Philadelphia 10
Phoenix 10
Rio de Janeiro 10
Washington 10
Auckland 9
Brescia 9
Catania 9
Johannesburg 9
Palermo 9
Piemonte 9
Poplar 9
San Francisco 9
Atlanta 8
Calgary 8
Campinas 8
Totale 5.170
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Nome #
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5) 579
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations 524
Mapping the human genetic architecture of COVID-19 361
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 327
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes 315
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 288
Onset of treatment-resistant schizophrenia in an adolescent with undiagnosed autism 236
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion 211
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease 171
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance 158
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review 150
Longitudinal monitoring of alpha-fetoprotein by dried blood spot for hepatoblastoma screening in beckwith-wiedemann syndrome 149
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder 130
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus 126
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity 125
Esophageal duplication cyst in newborn 124
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 118
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot 117
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 114
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome 114
Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele 110
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 110
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)” 107
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients 105
SETBP1 gene variants: from Schinzel-Giedion syndrome to mild neurodevelopmental disorder, a challenge for the clinician 104
Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome. 103
Constitutional bone impairment in Noonan syndrome 103
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum 97
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 94
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome 94
Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome 91
Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated with in Vitro Fertilization 90
Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth 90
Adult phenotype of Beckwith-Wiedemann syndrome 89
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth 89
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure 87
Phenotype evolution and health issues of adult patients affected by Beckwith-Wiedemann Syndrome 87
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome 86
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant 84
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene 84
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros) 81
Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome 80
Two de novo and one familiar cases of TLK2-associated intellectual disability confirm disease variable expressivity 79
Epilepsy in a cohort of children with Noonan syndrome and related disorders 78
Overexpression of INSM1, NOTCH1, NEUROD1, and YAP1 genes is associated with adverse clinical outcome in pediatric neuroblastoma 78
Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib 77
Syndromic Disorders Caused by Disturbed Human Imprinting 77
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants 77
Cerebral Metastases from Adrenocortical Carcinoma in Children: a Case Report and Literature Review 75
Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies 75
Patterns of novel alleles and genotype/phenotype correlations resulting from the analysis of 108 previously undetected mutations in patients affected by neurofibromatosis type I 75
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al 74
Lateralized and segmental overgrowth in children 74
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies 73
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development 73
A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy Datasets 73
Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome 73
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing 71
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis 70
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype 69
BULLOUS PILOMATRIXOMA 69
Holoprosencephaly: Report of four cases and genotype-phenotype correlations 68
Prenatal phenotype in Beckwith-Wiedemann spectrum 68
Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians 67
Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood 67
Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann Spectrum 66
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families 66
Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia 65
Mulibrey nanism and immunological complications: a comprehensive case report and literature review 63
BENTA disease or CARD11 gain-of-function? A novel variant with atypical features and a literature review 63
Matching clinical and genetic data in pediatric patients at risk of developing cystic kidney disease 62
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors 60
Contribution of autosomal rare and de novo variants to sex differences in autism 59
Bowel loop sign in a newborn 59
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management 58
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome 55
The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment 54
Novel PDGFRB Gene Fusions in Two Cases of Infantile Myofibromatosis 54
A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome 54
Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review 53
The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum 52
Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth 43
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome 39
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway 38
Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study 37
Genetic Basis of Congenital Upper Limb Anomalies: Analysis of 487 Cases of a Specialized Clinic 37
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I 36
VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: Disease spectrum in 25 patients ascertained for their upper limb involvement 36
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 33
Genomic Approach among Children with Medical Complexity: from Diagnosis to Therapy 32
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth 31
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities 11
Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome 8
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder 7
PIGC-related encephalopathy: Lessons learned from 18 new probands 4
Totale 9.517
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Categoria #
all - tutte 34.501
article - articoli 0
book - libri 0
conference - conferenze 3.648
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 38.149
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021224 0 0 0 0 0 0 25 27 22 36 30 84
2021/2022826 21 57 43 118 51 37 13 45 60 62 158 161
2022/20231.428 95 122 46 135 104 231 179 114 140 68 97 97
2023/2024947 123 140 46 100 61 58 22 38 14 75 81 189
2024/20252.612 76 149 142 242 440 186 89 168 244 185 268 423
2025/20262.966 553 392 347 604 600 224 246 0 0 0 0 0
Totale 9.517