IRIS
TORELLA, Annalaura
 Distribuzione geografica
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Continente #
EU - Europa 2.081
NA - Nord America 1.710
AS - Asia 421
OC - Oceania 9
Continente sconosciuto - Info sul continente non disponibili 4
SA - Sud America 3
Totale 4.228
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Nazione #
US - Stati Uniti d'America 1.705
IE - Irlanda 888
IT - Italia 422
CN - Cina 220
GB - Regno Unito 205
DE - Germania 162
UA - Ucraina 144
SG - Singapore 137
GR - Grecia 62
FI - Finlandia 52
FR - Francia 50
SE - Svezia 36
TR - Turchia 19
ES - Italia 18
BE - Belgio 13
NL - Olanda 13
VN - Vietnam 12
PK - Pakistan 10
AU - Australia 9
IN - India 8
CZ - Repubblica Ceca 6
CA - Canada 4
EU - Europa 4
DK - Danimarca 3
HK - Hong Kong 3
RU - Federazione Russa 3
CO - Colombia 2
JP - Giappone 2
SA - Arabia Saudita 2
TH - Thailandia 2
AE - Emirati Arabi Uniti 1
BH - Bahrain 1
BR - Brasile 1
CH - Svizzera 1
HU - Ungheria 1
IL - Israele 1
KR - Corea 1
PA - Panama 1
QA - Qatar 1
RO - Romania 1
RS - Serbia 1
TW - Taiwan 1
Totale 4.228
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Città #
Dublin 875
Chandler 327
Jacksonville 262
Princeton 103
Roxbury 92
Bremen 87
Singapore 83
Boardman 79
Medford 71
New York 58
Ann Arbor 56
Caserta 49
Cambridge 37
Wilmington 37
Beijing 34
Des Moines 31
Naples 31
Woodbridge 31
Jinan 27
Nanjing 20
Ashburn 16
Milan 15
Shenyang 15
Hebei 14
Lappeenranta 14
San Mateo 14
Helsinki 13
Santiago de Compostela 13
Brussels 12
Dong Ket 12
Hangzhou 12
Redwood City 12
Tianjin 12
Rome 11
Düsseldorf 10
Falls Church 10
Mountain View 10
Haikou 9
Melbourne 9
Napoli 9
Taizhou 9
Lanzhou 8
Ningbo 8
Changsha 7
Taiyuan 7
Amsterdam 6
Auburn Hills 6
Brno 6
Castelfranco Emilia 6
Catania 6
Chicago 6
Zhengzhou 6
Ercolano 5
Florence 5
Guangzhou 5
Houston 5
Munich 5
Nanchang 5
Redmond 5
Washington 5
Afragola 4
Città di Castello 4
Groningen 4
Los Angeles 4
Mumbai 4
Norwalk 4
Agropoli 3
Ariano Irpino 3
Arzano 3
Aversa 3
Hong Kong 3
Jiaxing 3
London 3
New Haven 3
Pignataro Maggiore 3
Porto Torres 3
Pune 3
San Giovanni Rotondo 3
San Nicola la Strada 3
Varedo 3
Viborg 3
West Chester 3
Arquata Scrivia 2
Atella 2
Avellino 2
Baltimore 2
Bangkok 2
Barranquilla 2
Boydton 2
Bresso 2
Cagliari 2
Casoria 2
Cazzano 2
Cellole 2
Dearborn 2
Fairfield 2
Fucecchio 2
Gavirate 2
Grafing 2
Grottaferrata 2
Totale 2.861
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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 130
Genetic association of ARHGAP21 gene variant with mandibular prognathism 85
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. 85
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 82
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 72
Novel mutations in LMNA A/C gene and associated phenotypes 70
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 70
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 67
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy 65
Genetic association of ARHGAP21 gene variant with mandibular prognathism 64
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing 64
Enhancer chip: detecting human copy number variations in regulatory elements. 63
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 62
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 60
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 60
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 58
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 57
Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review 57
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples 56
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 56
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 56
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 55
Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies. 53
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases 53
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 52
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 51
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 49
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 48
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 46
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients 46
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 46
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy 44
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) 44
One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography. 43
Combinatorial DHPLC analyses to identify point mutations in the dystrophin gene in 144 DMD/BMD patients 43
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 43
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 43
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in italian patients with hypertrophic cardiomyopathy 42
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 42
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F 42
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 41
Motor Chip: a Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders 40
GYG1 gene mutations in a family with polyglucosan body myopathy 40
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 40
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions 40
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report 38
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene 38
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature. 38
Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations 37
Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies 37
Incomplete Penetrance in LGMD1F. 36
An extremely severe phenotype attributed to WDR81 nonsense mutations 36
A Rare Case of Severe Congenital RYR1-Associated Myopathy 36
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23) 36
Adult cardiac stem cells are multipotent and robustly myogenic: C-kit expression is necessary but not sufficient for their identification 36
Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene 36
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 36
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay 36
In vitro CSC-derived cardiomyocytes exhibit the typical microRNA-mRNA blueprint of endogenous cardiomyocytes 36
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation 35
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 35
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) 35
BROX haploinsufficiency in familial nonmedullary thyroid cancer 35
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement 35
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 34
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) 34
A new family with transportinopathy: increased clinical heterogeneity 33
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients 33
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 31
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 30
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 30
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 29
Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies. 29
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies 29
Germline mosaicism and muscular dystrophies 28
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 28
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 27
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 27
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 27
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 27
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder 26
Expansion of the phenotype of lateral meningocele syndrome 26
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 26
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 26
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age 26
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 25
Incomplete penetrance in limb-girdle muscular dystrophy type 1F 24
Genotype–phenotype correlations in recessive titinopathies 24
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 24
Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature 24
Kitcreknock-in mice fail to fate-map cardiac stem cells 23
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically 22
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 22
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 22
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 22
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 21
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A) 21
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness 21
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio) 20
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant 20
Totale 4.153
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Categoria #
all - tutte 21.832
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 21.832
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020438 79 59 12 36 80 11 68 12 18 8 34 21
2020/2021611 32 5 46 79 165 12 73 40 15 43 75 26
2021/2022803 21 3 17 21 195 21 22 85 36 123 42 217
2022/20231.514 118 36 32 85 185 116 20 59 782 16 34 31
2023/2024833 56 37 42 59 248 76 40 25 4 24 63 159
2024/202516 16 0 0 0 0 0 0 0 0 0 0 0
Totale 4.632