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Annalaura Torella
Annalaura Torella
UniversitÓ degli studi della Campania “Luigi Vanvitelli”
Verified email at unicampania.it
Title
Cited by
Cited by
Year
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
E Benetti, R Tita, O Spiga, A Ciolfi, G Birolo, A Bruselles, G Doddato, ...
European Journal of Human Genetics 28 (11), 1602-1614, 2020
2722020
Adult cardiac stem cells are multipotent and robustly myogenic: c-kit expression is necessary but not sufficient for their identification
C Vicinanza, I Aquila, M Scalise, F Cristiano, F Marino, E Cianflone, ...
Cell Death & Differentiation 24 (12), 2101-2116, 2017
1492017
The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients
M Savarese, G Di Fruscio, A Torella, C Fiorillo, F Magri, M Fanin, ...
Neurology 87 (1), 71-76, 2016
1102016
Interpreting genetic variants in titin in patients with muscle disorders
M Savarese, L Maggi, A Vihola, PH Jonson, G Tasca, L Ruggiero, L Bello, ...
JAMA neurology 75 (5), 557-565, 2018
862018
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples
M Savarese, G Di Fruscio, M Mutarelli, A Torella, F Magri, FM Santorelli, ...
Acta neuropathologica communications 2, 1-13, 2014
842014
Kitcre knock-in mice fail to fate-map cardiac stem cells
C Vicinanza, I Aquila, E Cianflone, M Scalise, F Marino, T Mancuso, ...
Nature 555 (7697), E1-E5, 2018
832018
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
A Torella, M Fanin, M Mutarelli, E Peterle, F Del Vecchio Blanco, R Rispoli, ...
PloS one 8 (5), e63536, 2013
812013
Genetic Association of ARHGAP21 Gene Variant with Mandibular Prognathism
L Perillo, A Monsurr˛, E Bonci, A Torella, M Mutarelli, V Nigro
Journal of dental research 94 (4), 569-576, 2015
742015
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
B Zurek, K Ellwanger, LELM Vissers, R SchŘle, M Synofzik, A T÷pf, ...
European journal of human genetics 29 (9), 1325-1331, 2021
712021
The genetic landscape of dystrophin mutations in Italy: a nationwide study
M Neri, R Rossi, C Trabanelli, A Mauro, R Selvatici, MS Falzarano, ...
Frontiers in genetics 11, 131, 2020
712020
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders
G Piluso, M Dionisi, F Del Vecchio Blanco, A Torella, S Aurino, ...
Clinical chemistry 57 (11), 1584-1596, 2011
672011
Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene
A Taglia, R Petillo, P D'AMBROSIO, E Picillo, A Torella, C Orsini, M Ergoli, ...
Acta Myologica 34 (1), 9, 2015
602015
TBCE mutations cause early-onset progressive encephalopathy with distal spinal muscular atrophy
A Sferra, G Baillat, T Rizza, S Barresi, E Flex, G Tasca, A D’amico, ...
The American Journal of Human Genetics 99 (4), 974-983, 2016
562016
Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies
M La Verde, L De Falco, A Torella, G Savarese, P Savarese, R Ruggiero, ...
BMC medical genomics 14, 1-11, 2021
442021
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinctá…
G Cappuccio, C Sayou, PL Tanno, E Tisserant, AL Bruel, SE Kennani, ...
Genetics in Medicine 22 (11), 1838-1850, 2020
442020
Genotype–phenotype correlations in recessive titinopathies
M Savarese, A Vihola, EC Oates, R Barresi, C Fiorillo, G Tasca, M Jokela, ...
Genetics in Medicine 22 (12), 2029-2040, 2020
422020
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females
M Scala, A Torella, M Severino, G Morana, R Castello, A Accogli, ...
European Journal of Human Genetics 27 (8), 1254-1259, 2019
402019
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene
A Torella, M Zanobio, R Zeuli, F del Vecchio Blanco, M Savarese, ...
PLoS One 15 (8), e0237803, 2020
372020
Clinical and genetic findings in children with neurofibromatosis type 1, Legius syndrome, and other related neurocutaneous disorders
T Giugliano, C Santoro, A Torella, F Del Vecchio Blanco, A Grandone, ...
Genes 10 (8), 580, 2019
362019
Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review
E Agolini, ML Dentici, E Bellacchio, V Alesi, FC Radio, A Torella, ...
Clinical Genetics 93 (3), 675-681, 2018
352018
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