CINECA IRIS Institutional Research Information System

CARLI, Diana
 Distribuzione geografica
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Continente #
NA - Nord America 5.536
EU - Europa 3.723
AS - Asia 3.600
SA - Sud America 623
Continente sconosciuto - Info sul continente non disponibili 249
AF - Africa 83
OC - Oceania 60
Totale 13.874
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Nazione #
US - Stati Uniti d'America 5.230
IT - Italia 1.914
SG - Singapore 1.382
CN - Cina 882
BR - Brasile 458
VN - Vietnam 356
DE - Germania 286
IE - Irlanda 235
FR - Francia 208
SE - Svezia 195
GB - Regno Unito 182
HK - Hong Kong 176
CA - Canada 167
KR - Corea 162
IN - India 153
NL - Olanda 142
FI - Finlandia 112
BD - Bangladesh 105
ES - Italia 104
JP - Giappone 94
AR - Argentina 63
TR - Turchia 57
RU - Federazione Russa 49
AU - Australia 47
ID - Indonesia 42
AT - Austria 39
MX - Messico 39
PL - Polonia 36
CH - Svizzera 28
IQ - Iraq 28
UA - Ucraina 28
CO - Colombia 27
ZA - Sudafrica 25
CL - Cile 23
DK - Danimarca 23
JM - Giamaica 22
EC - Ecuador 21
BE - Belgio 20
IL - Israele 20
AE - Emirati Arabi Uniti 18
MY - Malesia 18
CR - Costa Rica 17
RO - Romania 16
GR - Grecia 14
VE - Venezuela 13
PK - Pakistan 12
LV - Lettonia 11
MA - Marocco 11
NI - Nicaragua 11
NO - Norvegia 11
NZ - Nuova Zelanda 11
PH - Filippine 11
PT - Portogallo 11
SA - Arabia Saudita 11
BA - Bosnia-Erzegovina 8
CZ - Repubblica Ceca 8
EG - Egitto 8
JO - Giordania 8
PY - Paraguay 8
TH - Thailandia 8
UZ - Uzbekistan 8
AZ - Azerbaigian 7
NG - Nigeria 7
DO - Repubblica Dominicana 6
DZ - Algeria 6
EE - Estonia 6
GT - Guatemala 6
LT - Lituania 6
NP - Nepal 6
PE - Perù 6
BB - Barbados 5
BG - Bulgaria 5
KZ - Kazakistan 5
PR - Porto Rico 5
RS - Serbia 5
SI - Slovenia 5
SV - El Salvador 5
AM - Armenia 4
HN - Honduras 4
HU - Ungheria 4
MD - Moldavia 4
TN - Tunisia 4
TT - Trinidad e Tobago 4
UY - Uruguay 4
CI - Costa d'Avorio 3
CY - Cipro 3
ET - Etiopia 3
GE - Georgia 3
KE - Kenya 3
PA - Panama 3
PS - Palestinian Territory 3
SN - Senegal 3
SY - Repubblica araba siriana 3
TW - Taiwan 3
AL - Albania 2
HR - Croazia 2
IR - Iran 2
KW - Kuwait 2
OM - Oman 2
TG - Togo 2
Totale 13.593
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Città #
Singapore 839
San Jose 692
Ashburn 552
Santa Clara 386
Chandler 352
Turin 260
Beijing 248
Dublin 205
Milan 202
Hong Kong 149
Seoul 146
Rome 138
Council Bluffs 134
Hefei 121
Torino 121
Munich 118
Los Angeles 106
Ho Chi Minh City 103
New York 102
Hanoi 94
The Dalles 84
Columbus 82
Lauterbourg 81
Fairfield 70
Houston 70
Naples 65
Nyköping 63
Ann Arbor 59
Dallas 58
São Paulo 56
Bengaluru 55
Tokyo 55
Buffalo 50
Princeton 47
Verona 46
Helsinki 44
Frankfurt am Main 43
Medford 41
Turku 38
Seattle 37
Shanghai 35
Toronto 35
Montreal 33
Wilmington 33
Orem 32
Boardman 29
Jakarta 29
Phoenix 29
Redwood City 29
Hangzhou 27
London 27
Boston 26
Florence 26
Madrid 26
Redondo Beach 26
Bologna 25
Genoa 25
Istanbul 25
Cambridge 24
Denver 24
Washington 24
Dong Ket 23
Paris 23
Brooklyn 21
Guangzhou 21
Jacksonville 21
Nuremberg 21
San Diego 21
Chennai 20
Lappeenranta 20
Woodbridge 20
Amsterdam 19
Chicago 19
Hebei 19
Sydney 19
Mexico City 18
Vienna 18
Atlanta 17
Nanjing 17
Palermo 17
Philadelphia 17
San Francisco 17
Catania 16
Fremont 16
Memphis 16
Santiago 16
Barcelona 15
Chengdu 15
Edinburgh 15
Kingston 15
Ankara 14
Brescia 14
Haiphong 14
Tübingen 14
Warsaw 14
Dearborn 13
Porto Alegre 13
St Louis 13
Brisbane 12
Curitiba 12
Totale 7.466
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Nome #
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5) 699
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations 620
Mapping the human genetic architecture of COVID-19 603
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes 393
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 360
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 316
Onset of treatment-resistant schizophrenia in an adolescent with undiagnosed autism 297
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 272
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion 247
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 229
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease 213
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review 202
Longitudinal monitoring of alpha-fetoprotein by dried blood spot for hepatoblastoma screening in beckwith-wiedemann syndrome 188
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity 186
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance 184
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus 169
Esophageal duplication cyst in newborn 169
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients 161
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder 160
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)” 159
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome 158
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot 154
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 154
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant 149
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors 148
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 147
SETBP1 gene variants: from Schinzel-Giedion syndrome to mild neurodevelopmental disorder, a challenge for the clinician 138
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros) 136
Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele 133
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome 132
Adult phenotype of Beckwith-Wiedemann syndrome 131
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum 131
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene 130
Constitutional bone impairment in Noonan syndrome 128
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 127
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure 126
Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood 126
Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib 125
Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated with in Vitro Fertilization 125
Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome. 124
Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann Spectrum 122
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis 121
Patterns of novel alleles and genotype/phenotype correlations resulting from the analysis of 108 previously undetected mutations in patients affected by neurofibromatosis type I 121
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth 121
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome 120
Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome 118
A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy Datasets 116
Lateralized and segmental overgrowth in children 116
Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth 113
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management 111
Mulibrey nanism and immunological complications: a comprehensive case report and literature review 110
Cerebral Metastases from Adrenocortical Carcinoma in Children: a Case Report and Literature Review 109
Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome 109
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome 108
Overexpression of INSM1, NOTCH1, NEUROD1, and YAP1 genes is associated with adverse clinical outcome in pediatric neuroblastoma 108
Syndromic Disorders Caused by Disturbed Human Imprinting 108
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype 107
Phenotype evolution and health issues of adult patients affected by Beckwith-Wiedemann Syndrome 107
Contribution of autosomal rare and de novo variants to sex differences in autism 105
Epilepsy in a cohort of children with Noonan syndrome and related disorders 105
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al 104
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies 102
Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth 102
Two de novo and one familiar cases of TLK2-associated intellectual disability confirm disease variable expressivity 102
BULLOUS PILOMATRIXOMA 101
Holoprosencephaly: Report of four cases and genotype-phenotype correlations 100
Prenatal phenotype in Beckwith-Wiedemann spectrum 99
Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies 98
Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians 96
Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome 96
BENTA disease or CARD11 gain-of-function? A novel variant with atypical features and a literature review 94
Matching clinical and genetic data in pediatric patients at risk of developing cystic kidney disease 93
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing 93
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development 92
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families 92
Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia 91
Bowel loop sign in a newborn 86
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 86
Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study 76
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities 75
Genetic Basis of Congenital Upper Limb Anomalies: Analysis of 487 Cases of a Specialized Clinic 75
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway 74
The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum 70
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 67
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I 64
Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association 64
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth 62
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 61
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome 61
Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome 57
PIGC-related encephalopathy: Lessons learned from 18 new probands 56
Genomic Approach among Children with Medical Complexity: from Diagnosis to Therapy 54
Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review 52
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder 48
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome 47
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing 45
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors 45
Novel PDGFRB Gene Fusions in Two Cases of Infantile Myofibromatosis 43
Data-driven consideration of genetic disorders for global genomic newborn screening programs 41
The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment 40
Totale 13.808
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Categoria #
all - tutte 46.512
article - articoli 0
book - libri 0
conference - conferenze 4.390
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 50.902
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022705 0 0 0 118 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
2024/20252.565 76 149 142 242 440 186 89 160 243 180 254 404
2025/20265.864 534 362 336 583 577 208 639 284 529 658 392 762
2026/20271.506 395 394 489 228 0 0 0 0 0 0 0 0
Totale 13.874