IRIS
TORELLA, Annalaura
 Distribuzione geografica
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Continente #
EU - Europa 8.562
AS - Asia 3.315
NA - Nord America 2.688
SA - Sud America 725
AF - Africa 45
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 6
Totale 15.351
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Nazione #
RU - Federazione Russa 6.032
US - Stati Uniti d'America 2.633
SG - Singapore 1.132
IE - Irlanda 843
CN - Cina 774
IT - Italia 640
BR - Brasile 605
HK - Hong Kong 576
DE - Germania 268
GB - Regno Unito 229
KR - Corea 213
VN - Vietnam 213
UA - Ucraina 149
IN - India 107
JP - Giappone 101
FR - Francia 79
GR - Grecia 61
FI - Finlandia 60
AR - Argentina 51
SE - Svezia 39
AT - Austria 38
TR - Turchia 36
CA - Canada 29
EC - Ecuador 26
ES - Italia 26
NL - Olanda 26
IQ - Iraq 25
PK - Pakistan 21
ID - Indonesia 20
BD - Bangladesh 18
PL - Polonia 18
BE - Belgio 17
ZA - Sudafrica 16
CO - Colombia 13
MX - Messico 13
AE - Emirati Arabi Uniti 10
PY - Paraguay 10
AU - Australia 9
SA - Arabia Saudita 9
CZ - Repubblica Ceca 6
DO - Repubblica Dominicana 6
JO - Giordania 6
KE - Kenya 6
KZ - Kazakistan 6
MA - Marocco 6
PE - Perù 6
UZ - Uzbekistan 6
VE - Venezuela 6
LT - Lituania 5
OM - Oman 5
PS - Palestinian Territory 5
AZ - Azerbaigian 4
DZ - Algeria 4
EG - Egitto 4
EU - Europa 4
KG - Kirghizistan 4
LB - Libano 4
TH - Thailandia 4
TN - Tunisia 4
BH - Bahrain 3
DK - Danimarca 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
XK - ???statistics.table.value.countryCode.XK??? 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
Totale 15.351
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Città #
Moscow 2.152
Dublin 830
Hong Kong 575
Santa Clara 505
Singapore 460
Chandler 317
Jacksonville 262
Seoul 212
Hefei 155
Ashburn 100
Princeton 98
Roxbury 87
Ho Chi Minh City 84
Bremen 82
Bengaluru 76
Boardman 75
Naples 75
Beijing 71
Medford 71
New York 70
Aversa 60
Ann Arbor 56
Caserta 49
São Paulo 47
The Dalles 46
Munich 44
Nuremberg 36
Wilmington 36
Hanoi 35
Dallas 33
Cambridge 32
Milan 31
Woodbridge 31
Des Moines 30
Jinan 29
Los Angeles 26
Rio de Janeiro 25
Nanjing 23
Vienna 22
Hangzhou 21
Tianjin 21
Helsinki 20
Rome 19
Belo Horizonte 16
Brussels 16
Guangzhou 16
Shenyang 16
Boston 14
Falkenstein 14
Hebei 14
London 14
San Mateo 14
Brasília 13
Changsha 13
Haiphong 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
Baghdad 10
Brooklyn 10
Da Nang 10
Düsseldorf 10
Falls Church 10
Lappeenranta 10
Mountain View 10
Florence 9
Haikou 9
Laives 9
Melbourne 9
Napoli 9
Ningbo 9
Taizhou 9
Tokyo 9
Toronto 9
Atlanta 8
Catania 8
Jakarta 8
Johannesburg 8
Juiz de Fora 8
Lanzhou 8
Mumbai 8
Taiyuan 8
Campinas 7
Dhaka 7
Goiânia 7
Quito 7
Zhengzhou 7
Amman 6
Auburn Hills 6
Bogotá 6
Brno 6
Buenos Aires 6
Castelfranco Emilia 6
Totale 7.706
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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 221
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 202
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 173
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 166
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 165
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. 159
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 158
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 157
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 156
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 154
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 150
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 148
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 144
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report 142
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 142
A new family with transportinopathy: increased clinical heterogeneity 139
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 138
Genetic association of ARHGAP21 gene variant with mandibular prognathism 137
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy 137
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy 136
Novel mutations in LMNA A/C gene and associated phenotypes 136
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 136
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 136
BROX haploinsufficiency in familial nonmedullary thyroid cancer 135
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically 133
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 133
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 131
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) 130
Genetic association of ARHGAP21 gene variant with mandibular prognathism 126
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 126
A Rare Case of Severe Congenital RYR1-Associated Myopathy 124
Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene 124
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy 123
Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies 122
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement 122
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 121
Enhancer chip: detecting human copy number variations in regulatory elements. 120
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene 120
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 119
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 118
In vitro CSC-derived cardiomyocytes exhibit the typical microRNA-mRNA blueprint of endogenous cardiomyocytes 118
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 117
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 117
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 117
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A 116
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients 116
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) 116
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 115
An extremely severe phenotype attributed to WDR81 nonsense mutations 115
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature. 115
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications 114
An interconnected data infrastructure to support large-scale rare disease research 114
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy 114
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 113
Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies. 113
Adult cardiac stem cells are multipotent and robustly myogenic: C-kit expression is necessary but not sufficient for their identification 113
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 111
Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review 111
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing 110
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants 109
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 108
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 108
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 107
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 105
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples 104
In vitro high-content screening reveals miR-429 as a protective molecule in photoreceptor degeneration 101
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 101
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 99
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 99
Motor Chip: a Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders 98
GYG1 gene mutations in a family with polyglucosan body myopathy 98
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 97
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age 97
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 96
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 96
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18) 95
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients 95
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) 94
One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography. 93
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases 93
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 93
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio) 93
A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant 93
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F 92
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 91
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay 91
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions 91
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 91
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness 91
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 90
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 90
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 89
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis 89
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation 89
Expansion of the phenotype of lateral meningocele syndrome 89
Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations 88
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 87
Genotype–phenotype correlations in recessive titinopathies 87
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 86
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in italian patients with hypertrophic cardiomyopathy 86
Totale 11.723
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Categoria #
all - tutte 52.023
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 52.023
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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
2025/20268.748 441 656 556 495 936 5.664 0 0 0 0 0 0
Totale 15.812