CRIS Current Research Information System

BACCHELLI, ELENA
 Distribuzione geografica
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Continente #
NA - Nord America 3.424
AS - Asia 3.115
EU - Europa 2.605
AF - Africa 225
SA - Sud America 156
OC - Oceania 4
Totale 9.529
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Nazione #
US - Stati Uniti d'America 3.377
CN - Cina 850
IT - Italia 816
SG - Singapore 789
VN - Vietnam 749
GB - Regno Unito 449
SE - Svezia 279
DE - Germania 276
HK - Hong Kong 192
FR - Francia 158
IN - India 145
BR - Brasile 107
RU - Federazione Russa 93
CI - Costa d'Avorio 87
KR - Corea 86
IE - Irlanda 84
UA - Ucraina 80
FI - Finlandia 76
NL - Olanda 76
TG - Togo 60
BG - Bulgaria 49
JP - Giappone 49
ZA - Sudafrica 44
JO - Giordania 43
PK - Pakistan 35
EE - Estonia 30
AR - Argentina 27
CA - Canada 27
PH - Filippine 26
TR - Turchia 25
ID - Indonesia 24
AT - Austria 22
CH - Svizzera 21
PL - Polonia 18
ES - Italia 16
BE - Belgio 14
BD - Bangladesh 12
IQ - Iraq 12
LT - Lituania 12
SC - Seychelles 12
TH - Thailandia 12
SA - Arabia Saudita 11
MX - Messico 10
CZ - Repubblica Ceca 8
IR - Iran 7
LB - Libano 7
UZ - Uzbekistan 7
EC - Ecuador 6
HR - Croazia 6
TW - Taiwan 6
AE - Emirati Arabi Uniti 5
AL - Albania 5
CO - Colombia 5
AU - Australia 4
DK - Danimarca 4
NG - Nigeria 4
TN - Tunisia 4
EG - Egitto 3
HU - Ungheria 3
KE - Kenya 3
LV - Lettonia 3
MA - Marocco 3
NP - Nepal 3
CL - Cile 2
CR - Costa Rica 2
IL - Israele 2
JM - Giamaica 2
KW - Kuwait 2
MY - Malesia 2
PA - Panama 2
PE - Perù 2
PS - Palestinian Territory 2
PY - Paraguay 2
SN - Senegal 2
SY - Repubblica araba siriana 2
UY - Uruguay 2
VE - Venezuela 2
BH - Bahrain 1
BO - Bolivia 1
BT - Bhutan 1
BY - Bielorussia 1
CM - Camerun 1
CY - Cipro 1
ET - Etiopia 1
GE - Georgia 1
GR - Grecia 1
HN - Honduras 1
KG - Kirghizistan 1
KH - Cambogia 1
KZ - Kazakistan 1
LC - Santa Lucia 1
MD - Moldavia 1
MN - Mongolia 1
MU - Mauritius 1
OM - Oman 1
PT - Portogallo 1
QA - Qatar 1
RS - Serbia 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 9.527
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Città #
Singapore 530
Ashburn 429
Southend 377
Fairfield 267
Bologna 243
Santa Clara 201
Chandler 185
Hong Kong 175
Hefei 169
Dong Ket 166
San Jose 155
Seattle 147
Woodbridge 139
Ho Chi Minh City 136
Hanoi 129
Houston 115
Wilmington 113
Dallas 111
Cambridge 100
Beijing 92
Ann Arbor 88
Abidjan 87
Seoul 82
Princeton 80
Dublin 79
New York 77
Boardman 63
Lomé 60
Helsinki 54
Milan 53
Redmond 50
Council Bluffs 49
Sofia 49
Lauterbourg 48
Amman 43
Tokyo 43
Turin 43
Berlin 42
Los Angeles 41
Tappahannock 40
Jacksonville 36
Westminster 35
Padova 32
Nanjing 31
Guangzhou 28
Rome 28
Haiphong 25
Munich 24
Bengaluru 23
Buffalo 23
Frankfurt am Main 21
Jinan 21
Redondo Beach 20
Boydton 19
São Paulo 19
Jakarta 18
Lappeenranta 18
Shanghai 18
Phoenix 17
Shenyang 17
Nuremberg 16
Modena 15
San Diego 15
Stockholm 15
Warsaw 15
Falkenstein 14
Florence 14
Parma 14
Bern 13
Brooklyn 13
Brussels 13
Chicago 13
Saint Petersburg 13
Da Nang 12
Montreal 12
Bremen 11
Hebei 11
Islamabad 11
Nanchang 11
Paris 11
Vienna 11
Wuhan 11
Zhengzhou 11
Changsha 10
Des Moines 10
London 10
Hải Dương 9
Johannesburg 9
Lahore 9
Norwalk 9
Reggio Emilia 9
Tianjin 9
Verona 9
Washington 9
Xi'an 9
Amsterdam 8
Boston 8
Brno 8
Can Tho 8
Cesena 8
Totale 6.069
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Nome #
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. 344
Brain magnetic resonance findings in 117 children with autism spectrum disorder under 5 years old. 293
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype 284
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates 284
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility 264
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray 248
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 241
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene 239
Analysis of shared heritability in common disorders of the brain 235
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder. 230
Contribution of compound heterozygous CACNA1H mutations in autism spectrum disorder susceptibility 219
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. 212
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 211
Analysis of X chromosome inactivation in autism spectrum disorders. 211
A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants 211
Absence of coding mutations in the X-linked genes Neuroligin 3 and Neuroligin 4 in individuals with autism from the IMGSAC collection 206
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. 205
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 202
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes 198
Investigating the role of rare missense variants in RAB11B in Autism Spectrum Disorder 188
SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. 188
Autism spectrum disorders: molecular genetic advances 186
Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor 183
Contribution of CACNA1H variants in Autism Spectrum Disorder Susceptibility 182
A genome-wide scan for common alleles affecting risk for autism. 182
ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario 180
DNA variants in the human RAB3A gene are not associated with autism. 176
Common and rare variants of microRNA genes in autism spectrum disorders 176
Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations. 174
Integrated DNA methylation analysis identifies topographical and tumoral biomarkers in pilocytic astrocytomas 170
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia 168
Linkage and candidate gene studies of autism spectrum disorders in European populations. 167
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder 165
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. 163
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 160
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders 160
Mapping autism risk loci using genetic linkage and chromosomal rearrangements 158
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. 153
High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. 151
Genomic analysis of 116 families with Autism Spectrum Disorder: rare de novo and inherited variants further delineate the role of risk genes and highlight new candidates 150
Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment 150
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. 148
The role of rare compound heterozygous events in autism spectrum disorder 146
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. 145
Functional impact of global rare copy number variation in autism spectrum disorders. 141
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. 140
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility 120
Lack of replication of previous autism spectrum disorder GWAS hits in European populations 112
null 104
null 81
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis' 81
Corrigendum: Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients(EMBO Mol Med, (2014), 6, (795–809), 10.1002/emmm.201303235) 69
null 63
Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene 56
Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region 55
Uncovering drug targets for cluster headache through proteome-wide Mendelian randomization analysis 20
Totale 9.748
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Categoria #
all - tutte 24.545
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 24.545
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021360 0 0 0 0 0 0 0 0 0 71 44 245
2021/2022980 86 19 60 41 112 89 28 73 57 72 230 113
2022/20231.119 82 127 56 90 83 173 72 64 198 25 96 53
2023/2024521 26 53 34 25 34 162 29 36 24 37 34 27
2024/20251.602 58 123 146 116 298 98 192 54 55 109 107 246
2025/20263.200 331 387 347 400 343 173 301 105 601 212 0 0
Totale 9.748