| Advances in understanding–genetic basis of intellectual disability P Chiurazzi, F Pirozzi F1000Research 5, 2016 | 178 | 2016 |
| From microcephaly to megalencephaly: determinants of brain size F Pirozzi, B Nelson, G Mirzaa Dialogues in clinical neuroscience 20 (4), 267, 2018 | 85 | 2018 |
| The FRAXopathies: Definition, overview, and update F Pirozzi, E Tabolacci, G Neri American Journal of Medical Genetics Part A 155 (8), 1803-1816, 2011 | 45 | 2011 |
| Highly efficient methods to obtain homogeneous dorsal neural progenitor cells from human and mouse embryonic stem cells and induced pluripotent stem cells M Zhang, J Ngo, F Pirozzi, YP Sun, A Wynshaw-Boris Stem cell research & therapy 9 (1), 1-13, 2018 | 40 | 2018 |
| Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family F Pirozzi, FR Di Raimo, G Zanni, E Bertini, P Billuart, T Tartaglione, ... Human mutation 32 (11), E2294-E2307, 2011 | 28 | 2011 |
| Lim mineralization protein 3 induces the osteogenic differentiation of human amniotic fluid stromal cells through Kruppel-like factor-4 downregulation and further bone-specific … M Barba, F Pirozzi, N Saulnier, T Vitali, MT Natale, G Logroscino, ... Journal of Biomedicine and Biotechnology 2012, 2012 | 22 | 2012 |
| Bradeion (SEPT4) as a Urinary Marker of Transitional Cell Bladder Cancer: A Real-Time Polymerase Chain Reaction Study of Gene Expression L Bongiovanni, F Pirozzi, F Guidi, M Orsini, P Chiurazzi, PF Bassi, ... The Journal of urology 187 (6), 2223-2227, 2012 | 18 | 2012 |
| Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes F Pirozzi, B Lee, N Horsley, DD Burkardt, WB Dobyns, JM Graham Jr, ... American Journal of Medical Genetics Part A, 2021 | 17 | 2021 |
| The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro E Tabolacci, F Pirozzi, B Gomez-Mancilla, F Gasparini, G Neri BMC medical genetics 13 (1), 1-5, 2012 | 16 | 2012 |
| FXS-like phenotype in two unrelated patients carrying a methylated premutation of the FMR1 gene E Fernández, E Gennaro, F Pirozzi, C Baldo, F Forzano, L Turolla, ... Frontiers in genetics 9, 442, 2018 | 10 | 2018 |
| Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder DL Polla, MAF Fard, Z Tabatabaei, P Habibzadeh, OA Levchenko, ... Genetics in Medicine, 1-9, 2021 | 6 | 2021 |
| Analysis of common PI3K-AKT-MTOR mutations in pediatric surgical epilepsy by droplet digital PCR reveals novel clinical and molecular insights F Pirozzi, M Berkseth, R Shear, L Gonzales, AE Timms, J Sulc, E Pao, ... medRxiv, 2021 | 1 | 2021 |
| Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant F Martello, S Lattante, PN Doronzio, A Conte, G Bisogni, D Orteschi, ... Stem Cell Research 55, 102461, 2021 | | 2021 |
| Megalencephaly: advances from genomic discoveries to precision-based medicine G Mirzaa, F Pirozzi, A Timms, M Berkseth, R Shear, G Ruggeri, E Novotny, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 24-24, 2020 | | 2020 |
| Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the m... M Snape, F Kooy, B Gomez-mancilla, F Pirozzi | | |
| Riattivazione del gene FMR1 responsabile della sindrome X fragile: verso una terapia farmacologica E Tabolacci, S Lanni, F Pirozzi, G Mancano, M Goracci, M Moscarda, ... | | |
