CINECA IRIS Institutional Research Information System

CARLI, Diana
 Distribuzione geografica
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Continente #
NA - Nord America 2.067
EU - Europa 1.696
AS - Asia 880
OC - Oceania 36
SA - Sud America 33
AF - Africa 20
Totale 4.732
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Nazione #
US - Stati Uniti d'America 2.024
IT - Italia 795
CN - Cina 334
SG - Singapore 306
IE - Irlanda 223
SE - Svezia 184
GB - Regno Unito 91
DE - Germania 81
FR - Francia 63
ES - Italia 54
VN - Vietnam 39
NL - Olanda 37
FI - Finlandia 36
JP - Giappone 36
IN - India 34
CA - Canada 32
TR - Turchia 30
AU - Australia 29
ID - Indonesia 24
UA - Ucraina 20
BR - Brasile 19
HK - Hong Kong 19
IL - Israele 17
KR - Corea 15
AT - Austria 13
CH - Svizzera 13
PL - Polonia 13
DK - Danimarca 12
BE - Belgio 10
AR - Argentina 9
RO - Romania 9
RU - Federazione Russa 8
CZ - Repubblica Ceca 7
MX - Messico 7
NO - Norvegia 7
NZ - Nuova Zelanda 7
AE - Emirati Arabi Uniti 6
NG - Nigeria 6
BA - Bosnia-Erzegovina 5
GR - Grecia 5
CO - Colombia 4
EG - Egitto 4
MY - Malesia 4
SI - Slovenia 4
ZA - Sudafrica 4
BG - Bulgaria 3
HU - Ungheria 3
SA - Arabia Saudita 3
SN - Senegal 3
TH - Thailandia 3
CR - Costa Rica 2
IR - Iran 2
KW - Kuwait 2
PA - Panama 2
PH - Filippine 2
TG - Togo 2
BD - Bangladesh 1
CI - Costa d'Avorio 1
CL - Cile 1
MO - Macao, regione amministrativa speciale della Cina 1
PK - Pakistan 1
UZ - Uzbekistan 1
Totale 4.732
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Città #
Chandler 350
Singapore 254
Dublin 196
Santa Clara 154
Turin 137
Torino 121
Beijing 71
Fairfield 70
Columbus 67
Ashburn 63
Nyköping 63
Ann Arbor 59
Houston 51
Princeton 46
Milan 42
Medford 41
Rome 37
Seattle 32
Wilmington 32
New York 25
Hangzhou 24
Jakarta 24
Redwood City 24
Cambridge 23
Dong Ket 23
Helsinki 21
Naples 21
Hebei 19
Boardman 18
Boston 18
Woodbridge 18
San Diego 17
Guangzhou 16
Fremont 15
Istanbul 15
Jacksonville 15
London 15
Shanghai 15
Barcelona 13
Dearborn 13
Nanjing 13
Munich 12
Genoa 11
Chengdu 10
Florence 10
Norwalk 10
Philadelphia 10
Sydney 10
Brescia 9
Piemonte 9
Tokyo 9
Ankara 8
Brisbane 8
Dallas 8
Leiden 8
Madrid 8
Palermo 8
San Mauro Torinese 8
Seoul 8
Toronto 8
Vienna 8
Delhi 7
Los Angeles 7
São Paulo 7
The Dalles 7
Villeurbanne 7
Washington 7
Zevio 7
Abuja 6
Amsterdam 6
Bari 6
Buenos Aires 6
Guiyang 6
Lappeenranta 6
Marratxí 6
Melito Di Napoli 6
Rochester 6
San Francisco 6
Zhengzhou 6
Alessandria 5
Auckland 5
Bosco Chiesanuova 5
Bristol 5
Brno 5
Brussels 5
Dundee 5
Falmouth 5
Jerusalem 5
Kunming 5
New Milton 5
Paris 5
Porto Alegre 5
Riverton 5
Treviso 5
Ulm 5
Acireale 4
Bologna 4
Catania 4
Central District 4
Coventry 4
Totale 2.686
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Nome #
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5) 398
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations 356
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 254
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 232
Mapping the human genetic architecture of COVID-19 212
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes 190
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion 140
Onset of treatment-resistant schizophrenia in an adolescent with undiagnosed autism 134
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance 119
Longitudinal monitoring of alpha-fetoprotein by dried blood spot for hepatoblastoma screening in beckwith-wiedemann syndrome 109
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus 94
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review 90
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease 88
Esophageal duplication cyst in newborn 87
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot 76
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder 76
Constitutional bone impairment in Noonan syndrome 73
Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele 71
Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome. 69
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 69
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients 68
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome 67
SETBP1 gene variants: from Schinzel-Giedion syndrome to mild neurodevelopmental disorder, a challenge for the clinician 65
Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth 64
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)” 62
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome 59
Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome 57
Adult phenotype of Beckwith-Wiedemann syndrome 56
Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated with in Vitro Fertilization 55
Phenotype evolution and health issues of adult patients affected by Beckwith-Wiedemann Syndrome 53
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum 53
Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome 52
Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome 50
Two de novo and one familiar cases of TLK2-associated intellectual disability confirm disease variable expressivity 49
Holoprosencephaly: Report of four cases and genotype-phenotype correlations 48
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 48
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 47
Patterns of novel alleles and genotype/phenotype correlations resulting from the analysis of 108 previously undetected mutations in patients affected by neurofibromatosis type I 45
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing 44
Syndromic Disorders Caused by Disturbed Human Imprinting 43
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome 42
BULLOUS PILOMATRIXOMA 41
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth 40
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 39
The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum 39
Prenatal phenotype in Beckwith-Wiedemann spectrum 38
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity 34
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies 34
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al 33
Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies 32
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 32
Lateralized and segmental overgrowth in children 31
Epilepsy in a cohort of children with Noonan syndrome and related disorders 29
Cerebral Metastases from Adrenocortical Carcinoma in Children: a Case Report and Literature Review 27
Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib 26
Overexpression of INSM1, NOTCH1, NEUROD1, and YAP1 genes is associated with adverse clinical outcome in pediatric neuroblastoma 24
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros) 22
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development 22
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene 22
Genetic Basis of Congenital Upper Limb Anomalies: Analysis of 487 Cases of a Specialized Clinic 22
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure 21
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 20
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 20
Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians 18
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families 17
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome 17
Mulibrey nanism and immunological complications: a comprehensive case report and literature review 16
Bowel loop sign in a newborn 16
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors 15
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway 12
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant 10
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 9
Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood 9
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome 9
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype 9
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis 8
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I 8
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth 5
Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study 5
Genomic Approach among Children with Medical Complexity: from Diagnosis to Therapy 3
Totale 4.898
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Categoria #
all - tutte 19.903
article - articoli 0
book - libri 0
conference - conferenze 2.397
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 22.300
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020188 0 0 0 0 15 18 10 27 19 35 17 47
2020/2021368 10 28 37 8 32 29 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
2024/2025959 76 149 142 242 350 0 0 0 0 0 0 0
Totale 4.898