| CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila C Zweier, EK de Jong, M Zweier, A Orrico, LB Ousager, AL Collins, ... The American Journal of Human Genetics 85 (5), 655-666, 2009 | 371 | 2009 |
| Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome) C Zweier, MM Peippo, J Hoyer, S Sousa, A Bottani, J Clayton-Smith, ... The American Journal of Human Genetics 80 (5), 994-1001, 2007 | 348 | 2007 |
| MECP2 mutation in male patients with non-specific X-linked mental retardation A Orrico, CW Lam, L Galli, MT Dotti, G Hayek, SF Tong, PMK Poon, ... FEBS letters 481 (3), 285-288, 2000 | 290 | 2000 |
| Novel PTEN mutations in neurodevelopmental disorders and macrocephaly A Orrico, L Galli, S Buoni, A Orsi, G Vonella, V Sorrentino Clinical genetics 75 (2), 195-198, 2009 | 119 | 2009 |
| Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients A Orrico, L Galli, ML Cavaliere, L Garavelli, JP Fryns, E Crushell, ... European Journal of Human Genetics 12 (1), 16-23, 2004 | 95 | 2004 |
| A Rett syndrome MECP2 mutation that causes mental retardation in men MT Dotti, A Orrico, N De Stefano, C Battisti, F Sicurelli, S Severi, CW Lam, ... Neurology 58 (2), 226-230, 2002 | 92 | 2002 |
| Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia L Galli, A Orrico, S Lorenzini, S Censini, M Falciani, A Covacci, ... Human mutation 27 (8), 830-830, 2006 | 89 | 2006 |
| PEDIA: prioritization of exome data by image analysis TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ... Genetics in Medicine 21 (12), 2807-2814, 2019 | 86 | 2019 |
| Heparin inhibition of polymorphonuclear leukocyte activation in vitro. A possible pharmacological approach to granulocyte-mediated vascular damage FL Pasini, AL Pasqui, L Ceccatelli, PL Capecchi, A Orrico, T Di Perri Thrombosis research 35 (5), 527-537, 1984 | 79 | 1984 |
| SCN1A mutation associated with atypical Panayiotopoulos syndrome S Grosso, A Orrico, L Galli, R Di Bartolo, V Sorrentino, P Balestri Neurology 69 (6), 609-611, 2007 | 76 | 2007 |
| Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region L Galli, A Orrico, S Cozzolino, V Pietrini, V Tegazzin, V Sorrentino Cell Calcium 32 (3), 143-151, 2002 | 69 | 2002 |
| Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? S Jacquemont, A Orrico, L Galli, PK Sahota, JA Brunberg, C Anichini, ... Journal of Medical Genetics 42 (2), e14-e14, 2005 | 65 | 2005 |
| Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene A Orrico, L Galli, L Faivre, J Clayton‐Smith, SM Azzarello‐Burri, JM Hertz, ... American Journal of Medical Genetics Part A 152 (2), 313-318, 2010 | 59 | 2010 |
| Mutations in the glucose‐6‐phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c L Galli, A Orrico, P Marcolongo, R Fulceri, A Burchell, D Melis, R Parini, ... FEBS letters 459 (2), 255-258, 1999 | 57 | 1999 |
| A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog–Scott syndrome) A Orrico, L Galli, M Falciani, M Bracci, ML Cavaliere, MM Rinaldi, ... FEBS letters 478 (3), 216-220, 2000 | 54 | 2000 |
| Muscle Biopsy and In Vitro Contracture Test in Subjects with Idiopathic HyperCKemia A Malandrini, A Orrico, C Gaudiano, S Gambelli, L Galli, G Berti, ... The Journal of the American Society of Anesthesiologists 109 (4), 625-628, 2008 | 51 | 2008 |
| Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies A Orrico, L Galli, S Grosso, S Buoni, R Pianigiani, P Balestri, V Sorrentino Clinical genetics 75 (6), 579-581, 2009 | 49 | 2009 |
| Attention‐deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog–Scott syndrome due to a novel FGD1 gene mutation (R408Q) A Orrico, L Galli, S Buoni, G Hayek, A Luchetti, S Lorenzini, M Zappella, ... American Journal of Medical Genetics Part A 135 (1), 99-102, 2005 | 43 | 2005 |
| Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities A Giorgio, MT Dotti, M Battaglini, S Marino, M Mortilla, ML Stromillo, ... Journal of neurology 253, 1471-1477, 2006 | 42 | 2006 |
| Spinocerebellar ataxia type 2 (SCA2) associated with retinal pigmentary degeneration A Rufa, MT Dotti, L Galli, A Orrico, F Sicurelli, A Federico European neurology 47 (2), 128-129, 2002 | 40 | 2002 |
