LEONARDI, EMANUELA
 Distribuzione geografica
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Continente #
NA - Nord America 7.115
AS - Asia 4.162
EU - Europa 2.061
AF - Africa 686
SA - Sud America 682
Continente sconosciuto - Info sul continente non disponibili 153
OC - Oceania 66
Totale 14.925
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Nazione #
US - Stati Uniti d'America 6.699
SG - Singapore 1.270
VN - Vietnam 762
CN - Cina 753
IT - Italia 493
BR - Brasile 424
HK - Hong Kong 344
DE - Germania 199
FI - Finlandia 185
BD - Bangladesh 171
FR - Francia 157
SE - Svezia 128
IN - India 125
PL - Polonia 94
CA - Canada 87
NL - Olanda 86
GB - Regno Unito 82
TR - Turchia 77
RU - Federazione Russa 68
AR - Argentina 58
CI - Costa d'Avorio 51
MX - Messico 50
AT - Austria 49
JP - Giappone 47
UA - Ucraina 47
ZA - Sudafrica 45
IQ - Iraq 42
ES - Italia 41
SA - Arabia Saudita 38
CO - Colombia 37
ID - Indonesia 32
PH - Filippine 32
PK - Pakistan 31
CZ - Repubblica Ceca 30
TN - Tunisia 29
BJ - Benin 27
UZ - Uzbekistan 27
KE - Kenya 26
PS - Palestinian Territory 26
VE - Venezuela 26
CR - Costa Rica 25
JM - Giamaica 25
MA - Marocco 25
PE - Perù 25
EC - Ecuador 24
JO - Giordania 23
MY - Malesia 22
RW - Ruanda 22
AZ - Azerbaigian 21
BB - Barbados 21
GE - Georgia 21
IE - Irlanda 21
LB - Libano 21
PY - Paraguay 21
AU - Australia 20
BG - Bulgaria 20
BO - Bolivia 20
BY - Bielorussia 20
CH - Svizzera 20
DJ - Gibuti 20
DK - Danimarca 20
HN - Honduras 20
KR - Corea 20
MD - Moldavia 20
IL - Israele 19
LC - Santa Lucia 19
NO - Norvegia 19
NP - Nepal 19
SK - Slovacchia (Repubblica Slovacca) 19
CY - Cipro 18
GF - Guiana Francese 18
ME - Montenegro 18
NI - Nicaragua 18
SD - Sudan 18
TW - Taiwan 18
AO - Angola 17
BF - Burkina Faso 17
DZ - Algeria 17
EG - Egitto 17
SO - Somalia 17
ZM - Zambia 17
AL - Albania 16
AM - Armenia 16
BE - Belgio 16
CL - Cile 16
DO - Repubblica Dominicana 16
HR - Croazia 16
KG - Kirghizistan 16
PT - Portogallo 16
RO - Romania 16
HU - Ungheria 15
NG - Nigeria 15
NZ - Nuova Zelanda 15
RS - Serbia 15
TT - Trinidad e Tobago 15
YE - Yemen 15
CM - Camerun 14
CU - Cuba 14
EE - Estonia 14
GN - Guinea 14
Totale 14.107
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Città #
Ashburn 902
Singapore 772
San Jose 718
Fairfield 598
Woodbridge 444
Chandler 388
Houston 321
Hong Kong 310
Ann Arbor 248
Seattle 242
Wilmington 224
Ho Chi Minh City 221
Cambridge 217
Hanoi 158
Beijing 156
Council Bluffs 156
Santa Clara 120
Los Angeles 119
Boardman 98
Jacksonville 96
Padova 95
Helsinki 89
Princeton 77
New York 75
Munich 69
Lauterbourg 66
San Diego 66
Dong Ket 56
Milan 55
Des Moines 53
Da Nang 50
Abidjan 49
Roxbury 48
Bytom 47
Medford 46
Rome 37
Turku 37
Tokyo 36
Buffalo 35
Chicago 34
São Paulo 34
Dallas 33
Guangzhou 33
Warsaw 33
Haiphong 32
Montreal 32
Orem 30
The Dalles 30
Amsterdam 28
Cotonou 27
Frankfurt am Main 27
Hebei 27
Nanjing 26
Vienna 26
Phoenix 25
London 24
Denver 23
Johannesburg 23
Nuremberg 23
Tashkent 23
Amman 22
Kigali 22
Bridgetown 21
Hefei 21
Rio de Janeiro 21
Boston 20
Nairobi 20
Shanghai 20
Atlanta 19
Baku 19
Brooklyn 19
Castries 19
Chennai 19
Dublin 19
Jeddah 19
Djibouti 18
Istanbul 18
Managua 18
San José 18
Hanover 17
Podgorica 17
Stockholm 17
Cayenne 16
Lappeenranta 16
Lusaka 16
Verona 16
Biên Hòa 15
Lima 15
Baghdad 14
Bogotá 14
Luanda 14
Minsk 14
Poplar 14
Redondo Beach 14
San Francisco 14
Tbilisi 14
Toronto 14
Tunis 14
Ulan Bator 14
Accra 13
Totale 8.871
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Nome #
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations 342
DisProt: intrinsic protein disorder annotation in 2020 333
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 289
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5 283
Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation 279
Crohn disease risk prediction-Best practices and pitfalls with exome data 279
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy. 275
DisProt 7.0: A major update of the database of disordered proteins 275
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 272
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge 271
Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact 268
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. 268
DisProt in 2022: improved quality and accessibility of protein intrinsic disorder annotation 267
BOOGIE: Predicting Blood Groups from High Throughput Sequencing Data 266
Critical assessment of protein intrinsic disorder prediction 263
Connexin 36 35delG does not represent a mutational hot spot. 255
INGA: protein function prediction combining interaction networks, domain assignments and sequence similarity 253
Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges 252
Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors 244
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 236
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features 234
A novel deletion involving the Connexin-30 gene, del(GJB6-D13S1854) found in trans with mutations in the GJB2 gene (Connexin 26) in subjects with DFNB1 non syndromic hearing impairment 230
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 229
Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population 229
A computational model of the LGI1 protein suggests a common binding site for ADAM proteins 228
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI 228
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain 225
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants 224
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) 219
Bioinformatic Analysis of Protein Mutations 217
Molecular genetics applied to clinical practice: the Cx26 hearing impairment 216
DisProt in 2024: improving function annotation of intrinsically disordered proteins 212
PED in 2024: improving the community deposition of structural ensembles for intrinsically disordered proteins 212
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs) 209
VHLdb: A database of von Hippel-Lindau protein interactors and mutations 206
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing 202
Adding structural information to the von Hippel-Lindau (VHL) tumor suppressor interaction network 200
Lessons from the CAGI-4 Hopkins clinical panel challenge 199
TRIO variants in individuals with variable intellectual deficits 197
PPP2R5D variants in patients with variable neurodevelopmental phenotype 189
A Novel WT1 Gene Mutation in a Three-Generation Family with Progressive Isolated Focal Segmental Glomerulosclerosis 187
A Missense de Novo Variant in the CASK -interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia 187
Fly Cryptochrome and the Visual System 185
Deletions and Mutations in the Acidic Lipid-binding Region of the Plasma Membrane Ca2+ Pump A STUDY ON DIFFERENT SPLICING VARIANTS OF ISOFORM 2 184
Allele drop out and MECP2 genetic testing 184
Best practices for the manual curation of intrinsically disordered proteins in DisProt 183
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges 183
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants 177
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females 177
Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family 175
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits 174
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS 172
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome 170
Fly cryptochrome and the visual system. 170
Expanding the clinical phenotype of SHANK2-related disorders: childhood apraxia of speech in a patient with a novel SHANK2 pathogenic variant 163
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow 161
Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA) 160
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 160
null 158
Patologia molecolare CDKL5 in una casistica di 170 individui non relati con disturbo pervasivo dello sviluppo e manifestazioni epilettiche ad insorgenza precoce 154
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A) 150
In silico blood genotyping from exome sequencing data 149
Cx26 deafness: mutation analysis and clinical variability 147
Molecular diagnosis in Rett Sindrome: the experience of a referring centre for rare diseases in the north-est of Italy. 140
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis 137
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs) 133
Molecular Effects of Mutations in Human Genetic Diseases 118
Novel CDKL5 splicing variant in a boy with early-onset seizures 116
Molecular characterization of large VHL deletions by Quantitative Real-Time PCR: the hypothesis of an Alu-mediated mechanism underlying VHL gene rearrangements 111
On the evolution of the Drosophila blue light photoreceptor CRYPTOCHROME and its relation to the visual system 110
Prevalence and Expression of Cx26 Mutations 109
Decoding protein structures with residue interaction networks 91
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge 75
Honokiol blocks tumor development and metastasis through mitochondrion-targeted effects 59
Integrative Multi-Omics Characterization and Structural Insights into the Poorly Annotated Integrin ITGA6 X1X2 Isoform in Mammals 41
Totale 14.925
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Categoria #
all - tutte 42.375
article - articoli 36.139
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 78.514
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022772 0 0 106 73 67 57 58 80 48 24 67 192
2022/2023729 135 109 21 104 96 88 3 56 69 8 33 7
2023/2024452 43 45 63 26 41 41 32 29 11 35 42 44
2024/20251.953 11 103 101 64 192 36 155 144 184 107 385 471
2025/20267.590 407 558 927 1.196 695 326 1.143 585 778 435 366 174
2026/2027692 257 357 78 0 0 0 0 0 0 0 0 0
Totale 14.925