IRIS
TORELLA, Annalaura
 Distribuzione geografica
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Continente #
EU - Europa 8.946
AS - Asia 4.013
NA - Nord America 3.493
SA - Sud America 765
AF - Africa 52
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 6
Totale 17.285
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Nazione #
RU - Federazione Russa 6.232
US - Stati Uniti d'America 3.406
SG - Singapore 1.345
CN - Cina 880
IE - Irlanda 844
IT - Italia 723
BR - Brasile 631
HK - Hong Kong 616
VN - Vietnam 478
DE - Germania 283
GB - Regno Unito 258
KR - Corea 215
UA - Ucraina 150
IN - India 120
JP - Giappone 111
FR - Francia 87
FI - Finlandia 61
GR - Grecia 61
AR - Argentina 58
NL - Olanda 50
CA - Canada 45
AT - Austria 43
SE - Svezia 39
TR - Turchia 39
BD - Bangladesh 37
ES - Italia 30
IQ - Iraq 30
EC - Ecuador 28
MX - Messico 25
PK - Pakistan 23
PL - Polonia 22
ID - Indonesia 21
BE - Belgio 18
ZA - Sudafrica 18
CO - Colombia 16
AE - Emirati Arabi Uniti 13
SA - Arabia Saudita 11
JO - Giordania 10
PY - Paraguay 10
AU - Australia 9
DO - Repubblica Dominicana 8
MA - Marocco 7
PE - Perù 7
VE - Venezuela 7
CH - Svizzera 6
CZ - Repubblica Ceca 6
KE - Kenya 6
KZ - Kazakistan 6
OM - Oman 6
TN - Tunisia 6
UZ - Uzbekistan 6
DZ - Algeria 5
EG - Egitto 5
LT - Lituania 5
MY - Malesia 5
PS - Palestinian Territory 5
AZ - Azerbaigian 4
DK - Danimarca 4
EU - Europa 4
KG - Kirghizistan 4
LB - Libano 4
PA - Panama 4
PT - Portogallo 4
QA - Qatar 4
SK - Slovacchia (Repubblica Slovacca) 4
TH - Thailandia 4
BH - Bahrain 3
NP - Nepal 3
RO - Romania 3
TW - Taiwan 3
AL - Albania 2
BA - Bosnia-Erzegovina 2
BN - Brunei Darussalam 2
BO - Bolivia 2
CI - Costa d'Avorio 2
CL - Cile 2
CR - Costa Rica 2
GY - Guiana 2
IL - Israele 2
XK - ???statistics.table.value.countryCode.XK??? 2
BG - Bulgaria 1
BJ - Benin 1
BS - Bahamas 1
BY - Bielorussia 1
CY - Cipro 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
Totale 17.284
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Città #
Moscow 2.270
Dublin 831
Singapore 626
Hong Kong 608
Santa Clara 514
San Jose 370
Chandler 317
Jacksonville 264
Seoul 213
Ashburn 205
Ho Chi Minh City 179
Hefei 157
Princeton 98
Hanoi 96
Naples 89
Roxbury 87
Beijing 84
Bremen 82
New York 79
Bengaluru 78
Boardman 75
Medford 71
Aversa 62
Los Angeles 58
Ann Arbor 56
São Paulo 52
Caserta 49
The Dalles 46
Munich 44
Dallas 39
Milan 39
Nuremberg 37
Wilmington 36
Cambridge 32
Des Moines 32
Woodbridge 31
Jinan 29
Amsterdam 28
Rome 28
Da Nang 27
Vienna 27
Rio de Janeiro 25
Haiphong 24
Nanjing 23
Frankfurt am Main 21
Hangzhou 21
Helsinki 21
Tianjin 21
Chicago 19
Brussels 17
Council Bluffs 17
London 17
Tokyo 17
Belo Horizonte 16
Boston 16
Falkenstein 16
Guangzhou 16
Shenyang 16
Atlanta 15
Hebei 14
San Mateo 14
Warsaw 14
Brasília 13
Changsha 13
Santiago de Compostela 13
Toronto 13
Curitiba 12
Dong Ket 12
Memphis 12
Redwood City 12
Brooklyn 11
Ercolano 11
Guayaquil 11
Mexico City 11
Montreal 11
Mumbai 11
Baghdad 10
Düsseldorf 10
Falls Church 10
Florence 10
Lappeenranta 10
Manchester 10
Melbourne 10
Mountain View 10
Amman 9
Chennai 9
Haikou 9
Jakarta 9
Johannesburg 9
Laives 9
Napoli 9
Ningbo 9
Orem 9
Taizhou 9
Catania 8
Juiz de Fora 8
Lanzhou 8
Phoenix 8
Taiyuan 8
Zhengzhou 8
Totale 8.909
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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 239
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 225
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 195
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 181
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 176
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 174
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 172
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 169
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 169
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 168
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. 166
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 164
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report 159
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 156
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 156
Genetic association of ARHGAP21 gene variant with mandibular prognathism 150
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 149
Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies 147
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy 147
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 147
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy 146
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically 146
Novel mutations in LMNA A/C gene and associated phenotypes 146
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 146
A new family with transportinopathy: increased clinical heterogeneity 146
BROX haploinsufficiency in familial nonmedullary thyroid cancer 144
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 144
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 143
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 142
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 140
An interconnected data infrastructure to support large-scale rare disease research 139
Genetic association of ARHGAP21 gene variant with mandibular prognathism 139
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 138
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) 137
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients 136
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 135
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 135
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy 134
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) 133
In vitro CSC-derived cardiomyocytes exhibit the typical microRNA-mRNA blueprint of endogenous cardiomyocytes 132
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 131
A Rare Case of Severe Congenital RYR1-Associated Myopathy 131
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene 131
CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology 130
Enhancer chip: detecting human copy number variations in regulatory elements. 130
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications 129
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A 129
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 129
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement 128
Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene 127
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 126
An extremely severe phenotype attributed to WDR81 nonsense mutations 125
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 125
Adult cardiac stem cells are multipotent and robustly myogenic: C-kit expression is necessary but not sufficient for their identification 124
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 123
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature. 123
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy 121
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants 120
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing 120
Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies. 120
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 119
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 118
Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review 118
In vitro high-content screening reveals miR-429 as a protective molecule in photoreceptor degeneration 117
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 116
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 116
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 116
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 114
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples 113
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 113
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 112
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18) 108
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age 107
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 106
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 106
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis 104
Motor Chip: a Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders 104
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients 103
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F 102
GYG1 gene mutations in a family with polyglucosan body myopathy 102
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 102
One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography. 101
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio) 101
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 100
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 100
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases 100
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 100
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness 100
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 99
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) 99
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 98
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 98
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 98
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation 98
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 98
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay 98
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 97
Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review 97
Streptozotocin-Induced Type 1 and 2 Diabetes Mellitus Mouse Models Show Different Functional, Cellular and Molecular Patterns of Diabetic Cardiomyopathy 97
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 97
Totale 12.924
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Categoria #
all - tutte 58.352
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 58.352
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202126 0 0 0 0 0 0 0 0 0 0 0 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
2024/20252.640 18 23 16 52 478 311 480 221 304 334 221 182
2025/202610.679 445 663 561 498 946 5.756 557 373 412 236 168 64
Totale 17.768