CINECA IRIS Institutional Research Information System

PAVINATO, LISA
 Distribuzione geografica
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Continente #
EU - Europa 765
NA - Nord America 620
AS - Asia 290
SA - Sud America 23
OC - Oceania 19
AF - Africa 7
Totale 1.724
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Nazione #
US - Stati Uniti d'America 592
IT - Italia 340
CN - Cina 124
SG - Singapore 93
GB - Regno Unito 66
IE - Irlanda 57
FR - Francia 54
SE - Svezia 50
DE - Germania 45
CA - Canada 27
ES - Italia 24
NL - Olanda 24
BR - Brasile 21
AU - Australia 17
FI - Finlandia 16
CH - Svizzera 15
ID - Indonesia 14
BE - Belgio 12
HK - Hong Kong 10
JP - Giappone 10
RU - Federazione Russa 10
TR - Turchia 10
IN - India 8
AT - Austria 7
CZ - Repubblica Ceca 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 1.724
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Città #
Chandler 81
Singapore 77
Turin 74
Dublin 56
Santa Clara 43
Ashburn 40
Milan 32
Rome 32
Nyköping 22
Columbus 18
New York 18
Torino 16
Beijing 15
Fairfield 14
Jakarta 14
Helsinki 12
Paris 12
Genoa 11
Houston 11
Hangzhou 10
Princeton 10
Wilmington 10
Hebei 9
London 9
Medford 9
Redwood City 9
Los Angeles 8
Munich 8
San Mauro Torinese 8
Antwerp 7
Edinburgh 7
Guangzhou 7
Leiden 7
Oxford 7
Sydney 7
Zevio 7
Amsterdam 6
Boardman 6
Boston 6
Brno 6
Marratxí 6
Palermo 6
Seattle 6
Toronto 6
Vienna 6
Brescia 5
Chengdu 5
Cleveland 5
Curitiba 5
Dundee 5
Falmouth 5
Nanjing 5
New Milton 5
Shanghai 5
Treviso 5
Washington 5
Acireale 4
Alessandria 4
Ankara 4
Bern 4
Coventry 4
Grand Rapids 4
Guiyang 4
Inverness 4
Oslo 4
Philadelphia 4
San Diego 4
Seoul 4
São Paulo 4
Vancouver 4
Avellino 3
Bebedouro 3
Bodegraven 3
Bologna 3
Cambridge 3
Chicago 3
Christchurch 3
Dijon 3
Dong Ket 3
Esslingen am Neckar 3
Eybens 3
Falls Church 3
Granada 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
Totale 991
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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 456
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 231
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes 189
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
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review 88
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder 76
SETBP1 gene variants: from Schinzel-Giedion syndrome to mild neurodevelopmental disorder, a challenge for the clinician 63
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases 58
The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders 57
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy 56
p140Cap regulates the composition and localization of the NMDAR complex in synaptic lipid rafts 50
Two de novo and one familiar cases of TLK2-associated intellectual disability confirm disease variable expressivity 48
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 46
Kcnk18 biallelic variants associated with intellectual disability and neurodevelopmental disorders alter tresk channel activity 46
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 46
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity 33
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 29
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder 24
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot 23
Identification of the DNA methylation signature of Mowat-Wilson syndrome 16
NEUROWES PROJECT: FROM WHOLE EXOME SEQUENCING DATA ANALYSIS TO FUNCTIONAL CHARACTERIZATION OF NOVEL NDD-ASSOCIATED GENES 11
Totale 1.765
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Categoria #
all - tutte 6.716
article - articoli 0
book - libri 0
conference - conferenze 1.369
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 8.085
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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
2024/2025380 42 72 71 91 104 0 0 0 0 0 0 0
Totale 1.765