Flavio Faletra
Flavio Faletra
Unknown affiliation
Verified email at burlo.trieste.it
Title
Cited by
Cited by
Year
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure
LV Wain, GC Verwoert, PF O'Reilly, G Shi, T Johnson, AD Johnson, ...
Nature genetics 43 (10), 1005-1011, 2011
3872011
Evidence of inbreeding depression on human height
R McQuillan, N Eklund, N Pirastu, M Kuningas, BP McEvoy, T Esko, ...
PLoS genetics 8 (7), 2012
842012
Type I interferon-mediated autoinflammation due to DNase II deficiency
MP Rodero, A Tesser, E Bartok, GI Rice, E Della Mina, M Depp, B Beitz, ...
Nature communications 8 (1), 2176, 2017
592017
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome
M Pigors, D Kiritsi, C Cobzaru, A Schwieger-Briel, J Suárez, F Faletra, ...
Journal of investigative dermatology 132 (10), 2422-2429, 2012
392012
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.
V Lougaris, F Faletra, G Lanzi, D Vozzi, A Marcuzzi, E Valencic, ...
Clinical immunology (Orlando, Fla.) 159 (1), 33, 2015
352015
A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta
E Rubinato, A Morgan, A D'Eustacchio, V Pecile, G Gortani, P Gasparini, ...
Gene 545 (2), 290-292, 2014
322014
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis
E Palagano, HC Blair, A Pangrazio, I Tourkova, D Strina, A Angius, ...
Journal of Bone and Mineral Research 30 (10), 1814-1821, 2015
302015
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection
E Athanasakis, D Licastro, F Faletra, A Fabretto, S Dipresa, D Vozzi, ...
American Journal of Medical Genetics Part A 164 (1), 170-176, 2014
282014
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss
F Faletra, G Girotto, AP D'Adamo, D Vozzi, A Morgan, P Gasparini
Gene 534 (2), 236-239, 2014
272014
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene
F Faletra, AP D'Adamo, I Bruno, E Athanasakis, S Biskup, L Esposito, ...
American Journal of Medical Genetics Part A 164 (1), 42-47, 2014
262014
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?
P D'Adamo, VI Guerci, A Fabretto, F Faletra, DL Grasso, L Ronfani, ...
European Journal of Human Genetics 17 (3), 284, 2009
262009
Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature
F Faletra, AP D'Adamo, MS Rocca, M Carrozzi, MD Perrone, V Pecile, ...
American Journal of Medical Genetics Part A 158 (2), 461-464, 2012
232012
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort
F Faletra, E Athanasakis, A Morgan, X Biarnés, F Fornasier, R Parini, ...
Gene 521 (1), 160-165, 2013
222013
Detection of Epidermal Thickening in GJB2 Carriers with Epidermal US1
PP Guastalla, VI Guerci, A Fabretto, F Faletra, DL Grasso, E Zocconi, ...
Radiology 251 (1), 280-286, 2009
212009
Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene
D De Rocco, N Pujol-Moix, A Pecci, F Faletra, V Bozzi, CL Balduini, ...
European journal of medical genetics 52 (4), 191-194, 2009
202009
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability
I Gandin, F Faletra, F Faletra, M Carella, V Pecile, GB Ferrero, E Biamino, ...
Genetics in Medicine 17 (5), 396-399, 2015
182015
De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature
MD Perrone, MS Rocca, I Bruno, F Faletra, V Pecile, P Gasparini
European journal of medical genetics 55 (2), 117-119, 2012
182012
Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening
A Maiorana, F Barbetti, A Boiani, V Rufini, M Pizzoferro, P Francalanci, ...
Clinical endocrinology 81 (5), 679-688, 2014
172014
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements
P Fortugno, F Grosso, G Zambruno, S Pastore, F Faletra, D Castiglia
Journal of human genetics 57 (5), 311-315, 2012
152012
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family
F Faletra, AP d’Adamo, S Pensiero, E Athanasakis, D Catalano, I Bruno, ...
Ophthalmic genetics 34 (1-2), 115-117, 2013
132013
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