IRIS
TORELLA, Annalaura
 Distribuzione geografica
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Continente #
EU - Europa 4.414
AS - Asia 3.229
NA - Nord America 2.677
SA - Sud America 711
AF - Africa 39
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 5
Totale 11.085
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Nazione #
US - Stati Uniti d'America 2.622
RU - Federazione Russa 1.889
SG - Singapore 1.105
IE - Irlanda 843
CN - Cina 772
IT - Italia 637
BR - Brasile 594
HK - Hong Kong 572
DE - Germania 268
GB - Regno Unito 228
KR - Corea 213
VN - Vietnam 179
UA - Ucraina 149
IN - India 106
JP - Giappone 100
FR - Francia 79
GR - Grecia 61
FI - Finlandia 60
AR - Argentina 49
SE - Svezia 39
AT - Austria 38
TR - Turchia 36
CA - Canada 29
EC - Ecuador 26
NL - Olanda 26
ES - Italia 25
ID - Indonesia 20
IQ - Iraq 20
PK - Pakistan 19
PL - Polonia 18
BD - Bangladesh 17
BE - Belgio 17
ZA - Sudafrica 14
MX - Messico 13
CO - Colombia 12
PY - Paraguay 10
AU - Australia 9
SA - Arabia Saudita 9
AE - Emirati Arabi Uniti 7
CZ - Repubblica Ceca 6
DO - Repubblica Dominicana 6
PE - Perù 6
UZ - Uzbekistan 6
VE - Venezuela 6
JO - Giordania 5
KE - Kenya 5
KZ - Kazakistan 5
LT - Lituania 5
MA - Marocco 5
AZ - Azerbaigian 4
EU - Europa 4
KG - Kirghizistan 4
PS - Palestinian Territory 4
TH - Thailandia 4
TN - Tunisia 4
BH - Bahrain 3
DK - Danimarca 3
DZ - Algeria 3
EG - Egitto 3
LB - Libano 3
OM - Oman 3
PA - Panama 3
PT - Portogallo 3
QA - Qatar 3
RO - Romania 3
SK - Slovacchia (Repubblica Slovacca) 3
BA - Bosnia-Erzegovina 2
BN - Brunei Darussalam 2
BO - Bolivia 2
CH - Svizzera 2
CI - Costa d'Avorio 2
CL - Cile 2
GY - Guiana 2
IL - Israele 2
NP - Nepal 2
TW - Taiwan 2
AL - Albania 1
BG - Bulgaria 1
BJ - Benin 1
BS - Bahamas 1
BY - Bielorussia 1
CR - Costa Rica 1
ET - Etiopia 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
JM - Giamaica 1
LK - Sri Lanka 1
LV - Lettonia 1
MK - Macedonia 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
RS - Serbia 1
SI - Slovenia 1
SR - Suriname 1
SY - Repubblica araba siriana 1
TG - Togo 1
UY - Uruguay 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 11.085
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Città #
Dublin 830
Moscow 673
Hong Kong 571
Santa Clara 505
Singapore 433
Chandler 317
Jacksonville 262
Seoul 212
Hefei 155
Princeton 98
Ashburn 95
Roxbury 87
Bremen 82
Bengaluru 76
Boardman 75
Naples 75
Ho Chi Minh City 74
Beijing 71
Medford 71
New York 68
Aversa 60
Ann Arbor 56
Caserta 49
The Dalles 46
São Paulo 45
Munich 44
Nuremberg 36
Wilmington 36
Dallas 33
Cambridge 32
Hanoi 31
Milan 31
Woodbridge 31
Des Moines 30
Jinan 29
Los Angeles 24
Rio de Janeiro 24
Nanjing 23
Vienna 22
Hangzhou 21
Tianjin 21
Helsinki 20
Rome 18
Belo Horizonte 16
Brussels 16
Guangzhou 16
Shenyang 16
Boston 14
Falkenstein 14
Hebei 14
London 14
San Mateo 14
Brasília 13
Changsha 13
Santiago de Compostela 13
Warsaw 13
Curitiba 12
Dong Ket 12
Frankfurt am Main 12
Redwood City 12
Amsterdam 11
Chicago 11
Ercolano 11
Guayaquil 11
Brooklyn 10
Düsseldorf 10
Falls Church 10
Lappeenranta 10
Mountain View 10
Florence 9
Haikou 9
Haiphong 9
Laives 9
Melbourne 9
Napoli 9
Ningbo 9
Taizhou 9
Toronto 9
Atlanta 8
Baghdad 8
Catania 8
Da Nang 8
Jakarta 8
Lanzhou 8
Mumbai 8
Taiyuan 8
Tokyo 8
Campinas 7
Johannesburg 7
Juiz de Fora 7
Quito 7
Zhengzhou 7
Auburn Hills 6
Bogotá 6
Brno 6
Buenos Aires 6
Castelfranco Emilia 6
Chennai 6
Dhaka 6
Goiânia 6
Totale 6.156
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Nome #
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 182
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 155
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 137
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 129
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. 128
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 124
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 124
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 122
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 118
Genetic association of ARHGAP21 gene variant with mandibular prognathism 115
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 114
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 114
Novel mutations in LMNA A/C gene and associated phenotypes 113
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy 112
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 109
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 106
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report 106
A new family with transportinopathy: increased clinical heterogeneity 103
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 103
Genetic association of ARHGAP21 gene variant with mandibular prognathism 102
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 101
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 101
BROX haploinsufficiency in familial nonmedullary thyroid cancer 101
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 101
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 99
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy 98
Enhancer chip: detecting human copy number variations in regulatory elements. 98
Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene 98
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 96
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 95
A Rare Case of Severe Congenital RYR1-Associated Myopathy 94
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 93
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing 92
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (Genetics in Medicine, (2018), 10.1038/s41436-018-0345-5) 92
Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies. 90
Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review 90
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 90
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy 89
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 89
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 89
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically 88
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 88
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 88
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement 87
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature. 87
Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies 86
An extremely severe phenotype attributed to WDR81 nonsense mutations 86
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene 85
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1) 85
In vitro CSC-derived cardiomyocytes exhibit the typical microRNA-mRNA blueprint of endogenous cardiomyocytes 85
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples 83
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications 82
Adult cardiac stem cells are multipotent and robustly myogenic: C-kit expression is necessary but not sufficient for their identification 82
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 81
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients 81
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients 79
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 79
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age 78
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 77
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy 77
Motor Chip: a Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders 77
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases 77
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 76
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F 76
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 76
One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography. 75
An interconnected data infrastructure to support large-scale rare disease research 74
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 74
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 73
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio) 73
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 73
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A 72
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions 72
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in italian patients with hypertrophic cardiomyopathy 71
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 71
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 70
GYG1 gene mutations in a family with polyglucosan body myopathy 70
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay 70
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 69
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation 69
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 69
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 68
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 68
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants 67
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 67
Corrigendum to: Expanding the phenotype of DST -related disorder: A case report suggesting a genotype/phenotype correlation (American Journal of Medical Genetics Part A, (2017), 173, 10, (2743-2746), 10.1002/ajmg.a.38367) 67
Genotype–phenotype correlations in recessive titinopathies 66
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 66
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 65
Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations 65
Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies 65
Combinatorial DHPLC analyses to identify point mutations in the dystrophin gene in 144 DMD/BMD patients 65
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder 64
Incomplete Penetrance in LGMD1F. 63
Expansion of the phenotype of lateral meningocele syndrome 63
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 63
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 62
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 61
Streptozotocin-Induced Type 1 and 2 Diabetes Mellitus Mouse Models Show Different Functional, Cellular and Molecular Patterns of Diabetic Cardiomyopathy 60
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 59
Totale 8.727
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Categoria #
all - tutte 46.086
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 46.086
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021284 0 0 0 0 0 12 73 40 15 43 75 26
2021/2022766 21 3 12 21 187 21 22 81 36 115 41 206
2022/20231.442 112 36 32 79 175 110 20 56 745 16 30 31
2023/2024775 53 34 39 54 231 68 36 25 4 23 58 150
2024/20252.615 18 23 16 52 478 306 469 217 303 333 220 180
2025/20264.482 441 656 556 495 936 1.398 0 0 0 0 0 0
Totale 11.546