IRIS
TORELLA, Annalaura
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 8.982
NA - Nord America 4.270
AS - Asia 4.082
SA - Sud America 767
Continente sconosciuto - Info sul continente non disponibili 489
AF - Africa 52
OC - Oceania 10
Totale 18.652
Salva come PNG Salva come JPEG
Nazione #
RU - Federazione Russa 6.232
US - Stati Uniti d'America 4.159
SG - Singapore 1.369
CN - Cina 893
IE - Irlanda 844
IT - Italia 751
BR - Brasile 631
HK - Hong Kong 626
VN - Vietnam 478
DE - Germania 285
GB - Regno Unito 260
KR - Corea 215
UA - Ucraina 150
IN - India 120
JP - Giappone 113
FR - Francia 89
FI - Finlandia 61
GR - Grecia 61
AR - Argentina 58
CA - Canada 54
BD - Bangladesh 52
NL - Olanda 51
AT - Austria 43
SE - Svezia 39
TR - Turchia 39
ES - Italia 30
IQ - Iraq 30
EC - Ecuador 28
MX - Messico 26
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
VE - Venezuela 8
MA - Marocco 7
PE - Perù 7
CH - Svizzera 6
CZ - Repubblica Ceca 6
KE - Kenya 6
KZ - Kazakistan 6
OM - Oman 6
TN - Tunisia 6
UZ - Uzbekistan 6
CR - Costa Rica 5
DZ - Algeria 5
EG - Egitto 5
JM - Giamaica 5
LT - Lituania 5
MY - Malesia 5
PS - Palestinian Territory 5
TH - Thailandia 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
RO - Romania 4
SK - Slovacchia (Repubblica Slovacca) 4
YE - Yemen 4
BH - Bahrain 3
CL - Cile 3
NP - Nepal 3
TW - Taiwan 3
AL - Albania 2
BA - Bosnia-Erzegovina 2
BN - Brunei Darussalam 2
BO - Bolivia 2
CI - Costa d'Avorio 2
GT - Guatemala 2
GY - Guiana 2
HN - Honduras 2
IL - Israele 2
XK - ???statistics.table.value.countryCode.XK??? 2
BB - Barbados 1
BG - Bulgaria 1
BJ - Benin 1
BS - Bahamas 1
BY - Bielorussia 1
CY - Cipro 1
ET - Etiopia 1
GP - Guadalupe 1
HR - Croazia 1
HU - Ungheria 1
LK - Sri Lanka 1
LV - Lettonia 1
MK - Macedonia 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PR - Porto Rico 1
Totale 18.162
Salva come PNG Salva come JPEG
Città #
Moscow 2.270
Dublin 831
Singapore 628
Hong Kong 618
Santa Clara 531
San Jose 380
Chandler 317
Jacksonville 264
Ashburn 250
Seoul 213
Ho Chi Minh City 179
Hefei 157
Princeton 98
Hanoi 96
Beijing 94
Naples 92
New York 87
Roxbury 87
Bremen 82
Bengaluru 78
Boardman 75
Medford 71
Los Angeles 68
Aversa 63
Ann Arbor 56
São Paulo 52
Caserta 49
Dallas 48
The Dalles 47
Munich 44
Milan 42
Nuremberg 37
Wilmington 36
Atlanta 35
Cambridge 32
Des Moines 32
Rome 31
Woodbridge 31
Jinan 29
Amsterdam 28
Council Bluffs 28
Da Nang 27
Vienna 27
Rio de Janeiro 25
Haiphong 24
Frankfurt am Main 23
Nanjing 23
Chicago 21
Hangzhou 21
Helsinki 21
Tianjin 21
Tokyo 18
Boston 17
Brussels 17
London 17
Belo Horizonte 16
Falkenstein 16
Guangzhou 16
Shenyang 16
Toronto 16
Brooklyn 14
Hebei 14
Memphis 14
Orem 14
San Mateo 14
Warsaw 14
Brasília 13
Changsha 13
Santiago de Compostela 13
Curitiba 12
Dong Ket 12
Mexico City 12
Redwood City 12
Ercolano 11
Guayaquil 11
Montreal 11
Mumbai 11
Phoenix 11
San Francisco 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
Houston 9
Jakarta 9
Johannesburg 9
Laives 9
Napoli 9
Ningbo 9
Taizhou 9
Catania 8
Juiz de Fora 8
Lanzhou 8
Totale 9.099
Salva come PNG Salva come JPEG
Nome #
Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies 473
Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review 385
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 243
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 227
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 197
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 186
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 177
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 177
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 177
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 175
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 172
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 170
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. 167
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 164
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 160
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 157
Genetic association of ARHGAP21 gene variant with mandibular prognathism 156
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 150
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy 149
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 147
A new family with transportinopathy: increased clinical heterogeneity 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
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 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
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 145
BROX haploinsufficiency in familial nonmedullary thyroid cancer 145
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 144
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients 144
An interconnected data infrastructure to support large-scale rare disease research 140
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 140
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) 140
Genetic association of ARHGAP21 gene variant with mandibular prognathism 139
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 138
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 138
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 137
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy 136
A Rare Case of Severe Congenital RYR1-Associated Myopathy 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) 134
In vitro CSC-derived cardiomyocytes exhibit the typical microRNA-mRNA blueprint of endogenous cardiomyocytes 134
CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology 133
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications 132
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 132
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A 131
Enhancer chip: detecting human copy number variations in regulatory elements. 131
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene 131
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 130
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement 129
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 128
Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene 128
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 127
An extremely severe phenotype attributed to WDR81 nonsense mutations 126
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 125
Adult cardiac stem cells are multipotent and robustly myogenic: C-kit expression is necessary but not sufficient for their identification 125
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature. 125
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing 124
In vitro high-content screening reveals miR-429 as a protective molecule in photoreceptor degeneration 122
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants 121
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 121
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy 121
Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies. 121
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 119
Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review 119
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 119
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 118
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 117
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 116
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples 114
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 114
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 114
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) 109
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 107
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age 107
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals 106
GYG1 gene mutations in a family with polyglucosan body myopathy 105
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
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F 104
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients 104
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation 104
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio) 104
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 102
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 102
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 101
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 101
One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography. 101
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases 101
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) 100
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay 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
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 99
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 99
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 99
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 98
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 98
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 98
Totale 13.717
Salva come PNG Salva come JPEG
Categoria #
all - tutte 62.586
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 62.586
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022745 0 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
2025/202610.758 445 663 561 498 946 5.756 557 373 412 236 168 143
2026/2027805 684 121 0 0 0 0 0 0 0 0 0 0
Totale 18.652