CINECA IRIS Institutional Research Information System

PAVINATO, LISA
 Distribuzione geografica
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Continente #
EU - Europa 559
NA - Nord America 470
AS - Asia 135
OC - Oceania 18
SA - Sud America 8
AF - Africa 1
Totale 1.191
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Nazione #
US - Stati Uniti d'America 448
IT - Italia 231
CN - Cina 80
IE - Irlanda 54
SE - Svezia 50
GB - Regno Unito 43
FR - Francia 35
DE - Germania 32
CA - Canada 22
ES - Italia 18
NL - Olanda 18
AU - Australia 16
BE - Belgio 12
RU - Federazione Russa 9
BR - Brasile 8
CH - Svizzera 8
FI - Finlandia 8
IN - India 8
AT - Austria 7
JP - Giappone 7
KR - Corea 7
TR - Turchia 7
UA - Ucraina 7
HK - Hong Kong 6
IL - Israele 6
SG - Singapore 6
BA - Bosnia-Erzegovina 5
MK - Macedonia 4
PL - Polonia 4
DK - Danimarca 3
GR - Grecia 3
PT - Portogallo 3
VN - Vietnam 3
MY - Malesia 2
NO - Norvegia 2
NZ - Nuova Zelanda 2
TW - Taiwan 2
BD - Bangladesh 1
CZ - Repubblica Ceca 1
HU - Ungheria 1
SI - Slovenia 1
ZA - Sudafrica 1
Totale 1.191
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Città #
Chandler 81
Turin 54
Dublin 53
Ashburn 34
Rome 25
Nyköping 22
Torino 16
Beijing 14
Fairfield 14
Milan 12
Genoa 11
New York 11
Hangzhou 10
Houston 10
Paris 10
Princeton 10
Wilmington 10
Hebei 9
Medford 9
Redwood City 9
San Mauro Torinese 8
Antwerp 7
Leiden 7
London 7
Sydney 7
Zevio 7
Helsinki 6
Los Angeles 6
Marratxí 6
Toronto 6
Vienna 6
Cleveland 5
Dundee 5
Edinburgh 5
Falmouth 5
Guangzhou 5
New Milton 5
Singapore 5
Acireale 4
Alessandria 4
Boston 4
Grand Rapids 4
Guiyang 4
Inverness 4
Nanjing 4
Oxford 4
Palermo 4
San Diego 4
Seattle 4
Seoul 4
Shanghai 4
Vancouver 4
Bodegraven 3
Brescia 3
Cambridge 3
Dong Ket 3
Esslingen am Neckar 3
Falls Church 3
Herzogenrath 3
Marília 3
Monza 3
Ossé 3
Pinerolo 3
Porto 3
Regensburg 3
Richmond Hill 3
San Francisco 3
Tokyo 3
Uppsala 3
Wenden 3
Aachen 2
Andrychow 2
Ankara 2
Badalona 2
Basel 2
Bern 2
Brierley Hill 2
Brookline 2
Cassano d'Adda 2
Chelmsford 2
Chengdu 2
Cherry Hill 2
Chongqing 2
Cincinnati 2
Concorezzo 2
Conthey 2
Deurne 2
Dijon 2
Everett 2
Florence 2
Flushing 2
Galatsi 2
Grenoble 2
Göttingen 2
Harbin 2
Heidelberg 2
Jung-gu 2
Lille 2
Lissone 2
Marseille 2
Totale 702
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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 372
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 213
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance 106
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder 63
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review 60
SETBP1 gene variants: from Schinzel-Giedion syndrome to mild neurodevelopmental disorder, a challenge for the clinician 49
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy 45
The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders 43
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes 40
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases 39
Two de novo and one familiar cases of TLK2-associated intellectual disability confirm disease variable expressivity 37
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 36
p140Cap regulates the composition and localization of the NMDAR complex in synaptic lipid rafts 34
Kcnk18 biallelic variants associated with intellectual disability and neurodevelopmental disorders alter tresk channel activity 33
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 28
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 11
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot 10
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder 8
Totale 1.227
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Categoria #
all - tutte 4.536
article - articoli 0
book - libri 0
conference - conferenze 1.096
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 5.632
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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
2023/2024305 37 57 30 47 21 44 12 18 10 29 0 0
Totale 1.227