CRIS Current Research Information System

BACCHELLI, ELENA
 Distribuzione geografica
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Continente #
NA - Nord America 3.177
EU - Europa 2.469
AS - Asia 2.389
AF - Africa 209
SA - Sud America 123
OC - Oceania 4
Totale 8.371
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Nazione #
US - Stati Uniti d'America 3.145
IT - Italia 782
CN - Cina 769
SG - Singapore 706
GB - Regno Unito 453
VN - Vietnam 364
SE - Svezia 283
DE - Germania 262
HK - Hong Kong 179
IN - India 126
FR - Francia 100
RU - Federazione Russa 95
CI - Costa d'Avorio 89
BR - Brasile 88
UA - Ucraina 83
KR - Corea 82
IE - Irlanda 77
NL - Olanda 69
FI - Finlandia 64
TG - Togo 61
BG - Bulgaria 50
JO - Giordania 39
ZA - Sudafrica 39
JP - Giappone 32
EE - Estonia 30
AT - Austria 22
ID - Indonesia 21
AR - Argentina 20
CA - Canada 19
CH - Svizzera 19
PK - Pakistan 18
PL - Polonia 16
TR - Turchia 15
ES - Italia 14
BE - Belgio 12
SC - Seychelles 12
LT - Lituania 9
CZ - Repubblica Ceca 8
MX - Messico 8
IR - Iran 7
LB - Libano 6
EC - Ecuador 5
HR - Croazia 5
AE - Emirati Arabi Uniti 4
AU - Australia 4
BD - Bangladesh 4
CO - Colombia 4
DK - Danimarca 4
AL - Albania 3
HU - Ungheria 3
IQ - Iraq 3
UZ - Uzbekistan 3
CL - Cile 2
EG - Egitto 2
PA - Panama 2
PE - Perù 2
BT - Bhutan 1
BY - Bielorussia 1
CM - Camerun 1
GE - Georgia 1
GR - Grecia 1
HN - Honduras 1
KE - Kenya 1
KH - Cambogia 1
KW - Kuwait 1
LC - Santa Lucia 1
MD - Moldavia 1
MU - Mauritius 1
MY - Malesia 1
NG - Nigeria 1
NP - Nepal 1
PH - Filippine 1
PS - Palestinian Territory 1
PY - Paraguay 1
QA - Qatar 1
RS - Serbia 1
SA - Arabia Saudita 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
TH - Thailandia 1
TN - Tunisia 1
TT - Trinidad e Tobago 1
UY - Uruguay 1
Totale 8.371
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Città #
Singapore 449
Ashburn 410
Southend 387
Fairfield 272
Bologna 239
Santa Clara 202
Chandler 185
Hong Kong 172
Hefei 168
Dong Ket 166
Seattle 151
Woodbridge 146
Houston 117
Wilmington 114
Dallas 111
Cambridge 105
Ann Arbor 90
Abidjan 89
Beijing 89
Princeton 83
Seoul 82
Dublin 77
New York 73
Boardman 63
Lomé 61
Redmond 50
Sofia 50
Milan 47
Helsinki 44
Turin 44
Berlin 43
Tappahannock 40
Amman 39
Los Angeles 38
Jacksonville 36
Westminster 36
Hanoi 34
Ho Chi Minh City 34
Padova 33
Nanjing 32
Tokyo 30
Munich 24
Rome 24
Guangzhou 22
Jinan 21
Redondo Beach 21
Buffalo 20
Bengaluru 19
Boydton 19
Shenyang 19
Jakarta 18
San Diego 17
São Paulo 17
Lappeenranta 16
Nuremberg 16
Phoenix 16
Modena 15
Falkenstein 14
Florence 14
Bern 13
Brooklyn 13
Saint Petersburg 13
Stockholm 13
Warsaw 13
Brussels 12
Parma 12
Shanghai 12
Council Bluffs 11
Hebei 11
Nanchang 11
Vienna 11
Des Moines 10
Zhengzhou 10
Bremen 9
Chicago 9
Frankfurt am Main 9
Haiphong 9
Norwalk 9
Reggio Emilia 9
Verona 9
Washington 9
Brno 8
Cesena 8
Changsha 8
Mülheim 8
Shekhupura 8
Tianjin 8
Wuhan 8
Boston 7
Falls Church 7
Haikou 7
Hyderabad 7
Redwood City 7
Chengdu 6
Dearborn 6
Izmir 6
Lahore 6
London 6
Ningbo 6
Palermo 6
Totale 5.433
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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. 310
Brain magnetic resonance findings in 117 children with autism spectrum disorder under 5 years old. 260
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype 249
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates 239
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility 227
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 224
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder. 216
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 212
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray 210
Analysis of shared heritability in common disorders of the brain 200
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. 194
Absence of coding mutations in the X-linked genes Neuroligin 3 and Neuroligin 4 in individuals with autism from the IMGSAC collection 192
Analysis of X chromosome inactivation in autism spectrum disorders. 191
A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants 189
Contribution of compound heterozygous CACNA1H mutations in autism spectrum disorder susceptibility 187
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 185
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. 182
Autism spectrum disorders: molecular genetic advances 179
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 174
A genome-wide scan for common alleles affecting risk for autism. 172
SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. 168
Linkage and candidate gene studies of autism spectrum disorders in European populations. 158
Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations. 156
Common and rare variants of microRNA genes in autism spectrum disorders 156
Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor 154
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes 154
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 154
Contribution of CACNA1H variants in Autism Spectrum Disorder Susceptibility 152
Integrated DNA methylation analysis identifies topographical and tumoral biomarkers in pilocytic astrocytomas 150
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 146
Investigating the role of rare missense variants in RAB11B in Autism Spectrum Disorder 143
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. 141
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders 139
DNA variants in the human RAB3A gene are not associated with autism. 137
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. 137
Individual common variants exert weak effects on the risk for autism spectrum disorders. 134
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. 134
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. 134
ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario 133
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder 133
Mapping autism risk loci using genetic linkage and chromosomal rearrangements 132
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. 129
Functional impact of global rare copy number variation in autism spectrum disorders. 129
Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment 123
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. 121
The role of rare compound heterozygous events in autism spectrum disorder 120
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 114
null 104
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility 96
Lack of replication of previous autism spectrum disorder GWAS hits in European populations 90
null 81
null 63
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis' 57
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) 42
Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene 39
Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region 39
Totale 8.584
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Categoria #
all - tutte 22.714
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 22.714
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021600 0 0 0 0 0 37 17 65 120 71 44 246
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
2025/20261.921 332 392 350 404 347 96 0 0 0 0 0 0
Totale 8.584