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Flavio Faletra
Flavio Faletra
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Dirección de correo verificada de burlo.trieste.it
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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
5022011
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
2042017
Evidence of inbreeding depression on human height
R McQuillan, N Eklund, N Pirastu, M Kuningas, BP McEvoy, T Esko, ...
PLoS genetics 8 (7), e1002655, 2012
1162012
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
692014
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ...
The American Journal of Human Genetics 108 (3), 502-516, 2021
612021
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
542014
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
522015
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), 33-36, 2015
522015
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
512014
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
502012
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability
C Reggiani, S Coppens, T Sekhara, I Dimov, B Pichon, N Lufin, MC Addor, ...
Genome medicine 9, 1-20, 2017
372017
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
372014
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), 284-286, 2009
372009
Gene panel analysis in a large cohort of patients with autosomal dominant polycystic kidney disease allows the identification of 80 potentially causative novel variants and the …
V Mantovani, S Bin, C Graziano, I Capelli, R Minardi, V Aiello, ...
Frontiers in Genetics 11, 517534, 2020
342020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
F Pelletier, S Perrier, FK Cayami, A Mirchi, S Saikali, LT Tran, N Ulrick, ...
The Journal of Clinical Endocrinology & Metabolism 106 (2), e660-e674, 2021
332021
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
292012
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss
A Morgan, DC Koboldt, ES Barrie, ER Crist, G García García, ...
Human mutation 40 (12), 2286-2295, 2019
282019
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
272014
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
272012
Genomic studies in a large cohort of hearing impaired Italian patients revealed several new alleles, a rare case of uniparental disomy (UPD) and the importance to search for …
A Morgan, S Lenarduzzi, S Cappellani, V Pecile, M Morgutti, E Orzan, ...
Frontiers in Genetics 9, 681, 2018
262018
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