IRIS
TORELLA, Annalaura
 Distribuzione geografica
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Continente #
EU - Europa 2.176
NA - Nord America 2.174
AS - Asia 575
SA - Sud America 21
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 4
AF - Africa 2
Totale 4.962
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Nazione #
US - Stati Uniti d'America 2.164
IE - Irlanda 841
IT - Italia 545
CN - Cina 237
SG - Singapore 205
GB - Regno Unito 200
DE - Germania 184
UA - Ucraina 143
GR - Grecia 61
FI - Finlandia 50
FR - Francia 47
HK - Hong Kong 44
SE - Svezia 36
TR - Turchia 24
ES - Italia 18
BE - Belgio 16
BR - Brasile 16
KR - Corea 14
NL - Olanda 13
VN - Vietnam 12
PK - Pakistan 11
AU - Australia 9
CA - Canada 9
IN - India 8
CZ - Repubblica Ceca 6
AT - Austria 5
EU - Europa 4
ID - Indonesia 4
CO - Colombia 3
DK - Danimarca 3
RU - Federazione Russa 3
AE - Emirati Arabi Uniti 2
AR - Argentina 2
BH - Bahrain 2
JP - Giappone 2
LT - Lituania 2
SA - Arabia Saudita 2
TH - Thailandia 2
BJ - Benin 1
BN - Brunei Darussalam 1
CH - Svizzera 1
IL - Israele 1
LB - Libano 1
NZ - Nuova Zelanda 1
OM - Oman 1
PA - Panama 1
QA - Qatar 1
RO - Romania 1
RS - Serbia 1
TW - Taiwan 1
ZA - Sudafrica 1
Totale 4.962
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Città #
Dublin 828
Santa Clara 493
Chandler 317
Jacksonville 262
Singapore 130
Princeton 98
Roxbury 87
Bremen 82
Boardman 75
Medford 71
Naples 64
Ann Arbor 56
New York 52
Caserta 49
Aversa 46
Hong Kong 44
Wilmington 36
Beijing 32
Cambridge 32
Woodbridge 31
Des Moines 30
Jinan 27
Milan 25
Munich 24
Nanjing 20
Brussels 15
Helsinki 15
Shenyang 15
Ashburn 14
Hebei 14
San Mateo 14
Hangzhou 13
Rome 13
Santiago de Compostela 13
Seoul 13
Dong Ket 12
Redwood City 12
Tianjin 12
Düsseldorf 10
Falls Church 10
Lappeenranta 10
Mountain View 10
Haikou 9
Laives 9
Melbourne 9
Napoli 9
Ningbo 9
Taizhou 9
Catania 8
Lanzhou 8
Changsha 7
Taiyuan 7
Auburn Hills 6
Brno 6
Castelfranco Emilia 6
Chicago 6
Guangzhou 6
Zhengzhou 6
Amsterdam 5
Ercolano 5
Florence 5
Groningen 5
Houston 5
London 5
Los Angeles 5
Nanchang 5
Redmond 5
Afragola 4
Città di Castello 4
Istanbul 4
Jakarta 4
Mumbai 4
Norwalk 4
Piscataway 4
Toronto 4
Washington 4
Agropoli 3
Ariano Irpino 3
Bari 3
Frankfurt am Main 3
Jiaxing 3
New Haven 3
Ottawa 3
Pignataro Maggiore 3
Porto Torres 3
Pune 3
San Giovanni Rotondo 3
San Nicola la Strada 3
Varedo 3
Viborg 3
Vienna 3
West Chester 3
Arquata Scrivia 2
Atella 2
Avellino 2
Baltimore 2
Bangkok 2
Barranquilla 2
Boydton 2
Bresso 2
Totale 3.491
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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 135
Genetic association of ARHGAP21 gene variant with mandibular prognathism 95
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. 91
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 88
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 85
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy 81
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 77
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 77
Novel mutations in LMNA A/C gene and associated phenotypes 75
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 75
Genetic association of ARHGAP21 gene variant with mandibular prognathism 71
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy 71
Enhancer chip: detecting human copy number variations in regulatory elements. 71
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing 70
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 70
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 69
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 69
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 67
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 63
Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review 63
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 60
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 60
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 60
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples 59
Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies. 58
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases 57
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 56
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 55
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 52
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 51
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 51
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients 50
One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography. 49
BROX haploinsufficiency in familial nonmedullary thyroid cancer 49
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 48
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 48
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in italian patients with hypertrophic cardiomyopathy 47
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 47
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F 47
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) 47
Combinatorial DHPLC analyses to identify point mutations in the dystrophin gene in 144 DMD/BMD patients 46
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 46
In vitro CSC-derived cardiomyocytes exhibit the typical microRNA-mRNA blueprint of endogenous cardiomyocytes 46
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report 45
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 45
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions 45
Motor Chip: a Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders 44
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 44
GYG1 gene mutations in a family with polyglucosan body myopathy 43
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 43
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene 43
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement 43
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature. 43
An extremely severe phenotype attributed to WDR81 nonsense mutations 42
Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations 41
Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies 41
Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene 41
Incomplete Penetrance in LGMD1F. 40
A Rare Case of Severe Congenital RYR1-Associated Myopathy 40
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 40
Adult cardiac stem cells are multipotent and robustly myogenic: C-kit expression is necessary but not sufficient for their identification 40
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) 40
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay 40
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 40
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients 39
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) 39
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 38
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation 38
A new family with transportinopathy: increased clinical heterogeneity 37
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 37
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 36
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 36
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 33
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically 32
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 32
Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies. 32
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies 32
Germline mosaicism and muscular dystrophies 31
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 31
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 31
Expansion of the phenotype of lateral meningocele syndrome 31
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 30
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age 30
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder 29
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 29
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications 28
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 28
Genotype–phenotype correlations in recessive titinopathies 28
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant 28
Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature 28
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy 27
Incomplete penetrance in limb-girdle muscular dystrophy type 1F 27
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 26
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 26
Kitcreknock-in mice fail to fate-map cardiac stem cells 26
Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies 25
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 25
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness 25
Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies 24
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 24
Totale 4.733
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Categoria #
all - tutte 27.646
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 27.646
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020161 0 0 0 0 0 0 68 12 18 8 34 21
2020/2021611 32 5 46 79 165 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
2024/2025942 18 23 16 52 478 306 49 0 0 0 0 0
Totale 5.391