CINECA IRIS Institutional Research Information System

PAVINATO, LISA
 Distribuzione geografica
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Continente #
EU - Europa 707
NA - Nord America 537
AS - Asia 235
SA - Sud America 20
OC - Oceania 18
AF - Africa 7
Totale 1.524
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Nazione #
US - Stati Uniti d'America 514
IT - Italia 301
CN - Cina 114
GB - Regno Unito 63
IE - Irlanda 57
SG - Singapore 52
FR - Francia 51
SE - Svezia 50
DE - Germania 41
CA - Canada 22
NL - Olanda 22
ES - Italia 21
BR - Brasile 18
AU - Australia 16
CH - Svizzera 14
FI - Finlandia 14
ID - Indonesia 14
BE - Belgio 12
HK - Hong Kong 10
RU - Federazione Russa 9
TR - Turchia 9
IN - India 8
AT - Austria 7
CZ - Repubblica Ceca 7
JP - Giappone 7
KR - Corea 7
UA - Ucraina 7
IL - Israele 6
BA - Bosnia-Erzegovina 5
GR - Grecia 4
MK - Macedonia 4
NO - Norvegia 4
PL - Polonia 4
ZA - Sudafrica 4
DK - Danimarca 3
PT - Portogallo 3
VN - Vietnam 3
CO - Colombia 2
MY - Malesia 2
NZ - Nuova Zelanda 2
RO - Romania 2
SN - Senegal 2
TW - Taiwan 2
BD - Bangladesh 1
CR - Costa Rica 1
HU - Ungheria 1
SI - Slovenia 1
TG - Togo 1
Totale 1.524
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Città #
Chandler 81
Turin 68
Dublin 56
Ashburn 40
Singapore 39
Milan 27
Rome 26
Nyköping 22
New York 18
Torino 16
Beijing 15
Fairfield 14
Jakarta 14
Genoa 11
Helsinki 11
Houston 11
Hangzhou 10
Paris 10
Princeton 10
Wilmington 10
Hebei 9
Medford 9
Redwood City 9
Los Angeles 8
San Mauro Torinese 8
Antwerp 7
Edinburgh 7
Guangzhou 7
Leiden 7
London 7
Sydney 7
Zevio 7
Boardman 6
Boston 6
Brno 6
Marratxí 6
Santa Clara 6
Seattle 6
Toronto 6
Vienna 6
Chengdu 5
Cleveland 5
Curitiba 5
Dundee 5
Falmouth 5
Nanjing 5
New Milton 5
Treviso 5
Washington 5
Acireale 4
Alessandria 4
Amsterdam 4
Ankara 4
Bern 4
Coventry 4
Grand Rapids 4
Guiyang 4
Inverness 4
Munich 4
Oslo 4
Oxford 4
Palermo 4
Philadelphia 4
San Diego 4
Seoul 4
Shanghai 4
Vancouver 4
Bebedouro 3
Bodegraven 3
Brescia 3
Cambridge 3
Chicago 3
Christchurch 3
Dijon 3
Dong Ket 3
Esslingen am Neckar 3
Eybens 3
Falls Church 3
Hackney 3
Herzogenrath 3
Johannesburg 3
Marília 3
Monza 3
Ossé 3
Pinerolo 3
Porto 3
Qionghai 3
Regensburg 3
Richmond Hill 3
San Francisco 3
Shenzhen 3
Tokyo 3
Uppsala 3
Wenden 3
Aachen 2
Andrychow 2
Badalona 2
Barcelona 2
Basel 2
Besançon 2
Totale 859
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Nome #
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review 429
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 226
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes 149
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance 113
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review 78
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder 65
SETBP1 gene variants: from Schinzel-Giedion syndrome to mild neurodevelopmental disorder, a challenge for the clinician 58
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy 51
The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders 49
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases 48
p140Cap regulates the composition and localization of the NMDAR complex in synaptic lipid rafts 45
Two de novo and one familiar cases of TLK2-associated intellectual disability confirm disease variable expressivity 43
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 42
Kcnk18 biallelic variants associated with intellectual disability and neurodevelopmental disorders alter tresk channel activity 39
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 39
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 24
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder 19
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity 18
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot 17
Identification of the DNA methylation signature of Mowat-Wilson syndrome 12
Totale 1.564
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Categoria #
all - tutte 5.943
article - articoli 0
book - libri 0
conference - conferenze 1.277
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 7.220
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202151 0 0 0 0 8 2 3 5 2 2 10 19
2021/2022323 11 23 24 42 37 33 19 16 12 18 52 36
2022/2023548 40 43 35 27 38 70 93 49 53 27 37 36
2023/2024463 37 57 30 47 21 44 12 18 10 31 59 97
2024/2025179 42 72 65 0 0 0 0 0 0 0 0 0
Totale 1.564