CRIS Current Research Information System

BACCHELLI, ELENA
 Distribuzione geografica
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Continente #
NA - Nord America 2.587
EU - Europa 2.094
AS - Asia 1.073
AF - Africa 134
SA - Sud America 9
OC - Oceania 1
Totale 5.898
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Nazione #
US - Stati Uniti d'America 2.581
IT - Italia 655
GB - Regno Unito 431
CN - Cina 374
SE - Svezia 275
SG - Singapore 262
VN - Vietnam 237
DE - Germania 207
IN - India 95
RU - Federazione Russa 89
UA - Ucraina 80
IE - Irlanda 73
FR - Francia 70
TG - Togo 61
BG - Bulgaria 50
FI - Finlandia 44
ZA - Sudafrica 34
JO - Giordania 33
CI - Costa d'Avorio 31
EE - Estonia 30
CH - Svizzera 19
NL - Olanda 19
ID - Indonesia 18
AT - Austria 15
HK - Hong Kong 13
BE - Belgio 11
PK - Pakistan 10
CZ - Repubblica Ceca 8
ES - Italia 7
BR - Brasile 6
HR - Croazia 5
IR - Iran 5
JP - Giappone 5
LB - Libano 5
SC - Seychelles 5
TR - Turchia 5
CA - Canada 4
AE - Emirati Arabi Uniti 3
HU - Ungheria 2
MX - Messico 2
UZ - Uzbekistan 2
AR - Argentina 1
AU - Australia 1
BT - Bhutan 1
CL - Cile 1
CO - Colombia 1
DK - Danimarca 1
EG - Egitto 1
KH - Cambogia 1
KR - Corea 1
MD - Moldavia 1
MU - Mauritius 1
PH - Filippine 1
PL - Polonia 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
TH - Thailandia 1
Totale 5.898
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Città #
Southend 387
Fairfield 272
Ashburn 236
Singapore 214
Bologna 200
Santa Clara 198
Chandler 185
Dong Ket 166
Seattle 150
Woodbridge 146
Wilmington 114
Houston 108
Cambridge 105
Ann Arbor 90
Princeton 83
Dublin 73
Lomé 61
New York 60
Boardman 57
Redmond 50
Sofia 50
Turin 44
Berlin 42
Tappahannock 40
Jacksonville 36
Westminster 36
Amman 33
Padova 33
Nanjing 32
Abidjan 31
Beijing 31
Helsinki 31
Milan 27
Jinan 20
Boydton 19
Rome 19
Shenyang 19
Jakarta 18
San Diego 17
Guangzhou 15
Bern 13
Lappeenranta 13
Saint Petersburg 13
Florence 12
Nuremberg 12
Parma 12
Brussels 11
Hebei 11
Hong Kong 11
Nanchang 11
Des Moines 10
Norwalk 9
Shanghai 9
Verona 9
Washington 9
Brno 8
Mülheim 8
Phoenix 8
Tianjin 8
Vienna 8
Zhengzhou 8
Changsha 7
Falls Church 7
Haikou 7
Hyderabad 7
Modena 7
Redwood City 7
Reggio Emilia 7
Wuhan 7
Cesena 6
Dearborn 6
Falkenstein 6
Lahore 6
Paris 6
Bühl 5
Harbin 5
Jiaxing 5
Macclesfield 5
Mahé 5
Ningbo 5
Stockholm 5
Taizhou 5
Yubileyny 5
Bremen 4
Chengdu 4
Dongguan 4
Hangzhou 4
Imola 4
Lanzhou 4
Lausanne 4
Los Angeles 4
Medford 4
Olalla 4
Sant'Elpidio a Mare 4
Vedelago 4
Xi'an 4
Anguillara Sabazia 3
Aubervilliers 3
Baranello 3
Bari 3
Totale 3.956
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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. 251
Brain magnetic resonance findings in 117 children with autism spectrum disorder under 5 years old. 185
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 183
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder. 182
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 173
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. 168
A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants 162
Analysis of X chromosome inactivation in autism spectrum disorders. 161
Analysis of shared heritability in common disorders of the brain 160
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility 160
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray 158
Absence of coding mutations in the X-linked genes Neuroligin 3 and Neuroligin 4 in individuals with autism from the IMGSAC collection 155
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. 154
A genome-wide scan for common alleles affecting risk for autism. 152
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 148
Autism spectrum disorders: molecular genetic advances 142
Linkage and candidate gene studies of autism spectrum disorders in European populations. 140
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 137
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype 133
Common and rare variants of microRNA genes in autism spectrum disorders 131
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 129
SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. 126
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders 123
Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations. 122
Integrated DNA methylation analysis identifies topographical and tumoral biomarkers in pilocytic astrocytomas 118
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. 115
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. 112
Individual common variants exert weak effects on the risk for autism spectrum disorders. 111
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. 110
DNA variants in the human RAB3A gene are not associated with autism. 109
Functional impact of global rare copy number variation in autism spectrum disorders. 108
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 105
null 104
Mapping autism risk loci using genetic linkage and chromosomal rearrangements 102
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. 101
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. 99
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. 98
ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario 94
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates 89
The role of rare compound heterozygous events in autism spectrum disorder 87
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder 86
Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment 83
null 81
Contribution of compound heterozygous CACNA1H mutations in autism spectrum disorder susceptibility 77
null 63
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility 59
Lack of replication of previous autism spectrum disorder GWAS hits in European populations 53
Contribution of CACNA1H variants in Autism Spectrum Disorder Susceptibility 48
Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor 46
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis' 35
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes 28
Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region 18
Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene 16
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) 7
Totale 6.097
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Categoria #
all - tutte 15.935
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 15.935
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020488 0 0 0 0 0 0 0 143 174 77 36 58
2020/2021862 119 39 28 34 42 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
2024/20251.058 59 123 149 117 305 102 194 9 0 0 0 0
Totale 6.097