CRIS Current Research Information System

BACCHELLI, ELENA
 Distribuzione geografica
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Continente #
NA - Nord America 3.661
AS - Asia 3.213
EU - Europa 2.738
AF - Africa 230
SA - Sud America 162
OC - Oceania 4
Totale 10.008
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Nazione #
US - Stati Uniti d'America 3.603
IT - Italia 903
CN - Cina 871
SG - Singapore 814
VN - Vietnam 752
GB - Regno Unito 459
SE - Svezia 287
DE - Germania 282
HK - Hong Kong 203
FR - Francia 160
IN - India 147
BR - Brasile 112
RU - Federazione Russa 95
CI - Costa d'Avorio 89
KR - Corea 86
IE - Irlanda 84
UA - Ucraina 83
NL - Olanda 81
FI - Finlandia 78
TG - Togo 61
JP - Giappone 51
BG - Bulgaria 50
ZA - Sudafrica 45
JO - Giordania 43
PK - Pakistan 40
BD - Bangladesh 38
CA - Canada 35
EE - Estonia 30
AR - Argentina 27
PH - Filippine 26
TR - Turchia 25
AT - Austria 24
CH - Svizzera 24
ID - Indonesia 24
PL - Polonia 18
ES - Italia 17
BE - Belgio 14
LT - Lituania 13
IQ - Iraq 12
SC - Seychelles 12
TH - Thailandia 12
SA - Arabia Saudita 11
MX - Messico 10
CZ - Repubblica Ceca 8
IR - Iran 8
LB - Libano 8
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
EG - Egitto 4
NG - Nigeria 4
TN - Tunisia 4
HU - Ungheria 3
JM - Giamaica 3
KE - Kenya 3
LV - Lettonia 3
MA - Marocco 3
NP - Nepal 3
PY - Paraguay 3
CL - Cile 2
CR - Costa Rica 2
IL - Israele 2
KW - Kuwait 2
KZ - Kazakistan 2
MY - Malesia 2
PA - Panama 2
PE - Perù 2
PS - Palestinian Territory 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
GT - Guatemala 1
HN - Honduras 1
KG - Kirghizistan 1
KH - Cambogia 1
LC - Santa Lucia 1
MD - Moldavia 1
MN - Mongolia 1
MQ - Martinica 1
MU - Mauritius 1
OM - Oman 1
PT - Portogallo 1
QA - Qatar 1
RS - Serbia 1
Totale 10.004
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Città #
Singapore 547
Ashburn 453
Southend 387
Fairfield 272
Bologna 257
Santa Clara 207
Hong Kong 186
Chandler 185
San Jose 185
Hefei 169
Dong Ket 166
Seattle 151
Woodbridge 146
Ho Chi Minh City 136
Hanoi 129
Houston 119
Wilmington 114
Dallas 112
Cambridge 105
Beijing 94
Ann Arbor 90
Abidjan 89
New York 86
Princeton 83
Seoul 82
Dublin 79
Milan 78
Council Bluffs 66
Boardman 64
Lomé 61
Helsinki 55
Los Angeles 51
Redmond 50
Sofia 50
Lauterbourg 49
Tokyo 45
Turin 45
Amman 43
Berlin 43
Tappahannock 40
Jacksonville 38
Westminster 36
Nanjing 33
Padova 33
Rome 30
Guangzhou 28
Buffalo 27
Haiphong 25
Munich 24
Bengaluru 23
Phoenix 22
Frankfurt am Main 21
Jinan 21
Redondo Beach 21
São Paulo 21
San Diego 20
Boydton 19
Lappeenranta 19
Modena 19
Shanghai 19
Shenyang 19
Jakarta 18
Nuremberg 17
Brooklyn 15
Montreal 15
Stockholm 15
Warsaw 15
Falkenstein 14
Florence 14
Parma 14
Bern 13
Brussels 13
Chicago 13
Saint Petersburg 13
Vienna 13
Da Nang 12
Bremen 11
Hebei 11
Islamabad 11
Nanchang 11
Paris 11
Washington 11
Wuhan 11
Zhengzhou 11
Changsha 10
Des Moines 10
London 10
Xi'an 10
Amsterdam 9
Cesena 9
Hải Dương 9
Johannesburg 9
Lahore 9
Norwalk 9
Orem 9
Reggio Emilia 9
Tianjin 9
Verona 9
Boston 8
Brno 8
Totale 6.335
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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. 353
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates 306
Brain magnetic resonance findings in 117 children with autism spectrum disorder under 5 years old. 298
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype 291
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility 270
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray 255
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes 246
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 245
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 243
Analysis of shared heritability in common disorders of the brain 238
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder. 232
Contribution of compound heterozygous CACNA1H mutations in autism spectrum disorder susceptibility 224
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 217
A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants 217
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. 214
Analysis of X chromosome inactivation in autism spectrum disorders. 213
Absence of coding mutations in the X-linked genes Neuroligin 3 and Neuroligin 4 in individuals with autism from the IMGSAC collection 210
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. 206
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 204
Investigating the role of rare missense variants in RAB11B in Autism Spectrum Disorder 201
Autism spectrum disorders: molecular genetic advances 189
SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. 188
Contribution of CACNA1H variants in Autism Spectrum Disorder Susceptibility 186
Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor 186
A genome-wide scan for common alleles affecting risk for autism. 186
ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario 182
DNA variants in the human RAB3A gene are not associated with autism. 181
Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations. 178
Common and rare variants of microRNA genes in autism spectrum disorders 178
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder 176
Integrated DNA methylation analysis identifies topographical and tumoral biomarkers in pilocytic astrocytomas 174
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 173
Linkage and candidate gene studies of autism spectrum disorders in European populations. 169
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 166
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. 165
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 162
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders 162
Mapping autism risk loci using genetic linkage and chromosomal rearrangements 161
Individual common variants exert weak effects on the risk for autism spectrum disorders. 154
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. 154
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. 153
Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment 152
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. 149
The role of rare compound heterozygous events in autism spectrum disorder 149
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. 148
Functional impact of global rare copy number variation in autism spectrum disorders. 142
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 121
Lack of replication of previous autism spectrum disorder GWAS hits in European populations 119
null 104
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis' 85
null 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) 74
Uncovering drug targets for cluster headache through proteome-wide Mendelian randomization analysis 74
null 63
Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene 58
Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region 58
So Fragile, So Human: Noncoding DNA Regions Orchestrating Gene Expression Involved in Neurodevelopmental Disorders and in Human Brain Evolution 9
Totale 10.232
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Categoria #
all - tutte 26.387
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 26.387
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021246 0 0 0 0 0 0 0 0 0 0 0 246
2021/2022996 87 20 61 41 114 92 30 73 59 72 232 115
2022/20231.137 84 129 57 91 83 174 73 70 198 25 100 53
2023/2024527 26 53 34 25 34 165 29 37 24 39 34 27
2024/20251.624 59 123 149 117 305 102 194 54 56 109 107 249
2025/20263.569 332 392 350 404 347 178 306 106 609 255 179 111
Totale 10.232