| Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia A Cortese, R Simone, R Sullivan, J Vandrovcova, H Tariq, WY Yau, ... Nature genetics 51 (4), 649-658, 2019 | 439 | 2019 |
| Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 247 | 2019 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 198 | 2019 |
| Obesity and breastfeeding: The strength of association L Marseglia, S Manti, G D’Angelo, C Cuppari, V Salpietro, M Filippelli, ... Women and Birth 28 (2), 81-86, 2015 | 160 | 2015 |
| Expanding the genetic heterogeneity of intellectual disability S Anazi, S Maddirevula, V Salpietro, YT Asi, S Alsahli, A Alhashem, ... Human genetics 136, 1419-1429, 2017 | 155 | 2017 |
| De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions NE Mencacci, EJ Kamsteeg, K Nakashima, L R’Bibo, DS Lynch, B Balint, ... The American Journal of Human Genetics 98 (4), 763-771, 2016 | 124 | 2016 |
| The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features M Ruggieri, A Polizzi, A Spalice, V Salpietro, R Caltabiano, V D'Orazi, ... Clinical Genetics 87 (5), 401-410, 2015 | 100 | 2015 |
| Mutations in the neuronal vesicular SNARE VAMP2 affect synaptic membrane fusion and impair human neurodevelopment V Salpietro, NT Malintan, I Llano-Rivas, CG Spaeth, S Efthymiou, ... The American Journal of Human Genetics 104 (4), 721-730, 2019 | 90 | 2019 |
| Clinical, pathological and functional characterization of riboflavin-responsive neuropathy A Manole, Z Jaunmuktane, I Hargreaves, MHR Ludtmann, V Salpietro, ... Brain 140 (11), 2820-2837, 2017 | 84 | 2017 |
| Pediatric idiopathic intracranial hypertension: age, gender, and anthropometric features at diagnosis in a large, retrospective, multisite cohort CA Sheldon, GL Paley, R Xiao, A Kesler, O Eyal, MW Ko, CJ Boisvert, ... Ophthalmology 123 (11), 2424-2431, 2016 | 84 | 2016 |
| High-mobility group protein B1: a new biomarker of metabolic syndrome in obese children T Arrigo, V Chirico, V Salpietro, C Munafo, V Ferrau, E Gitto, A Lacquaniti, ... European journal of endocrinology 168 (4), 631-638, 2013 | 83 | 2013 |
| Mutations in ACTL6B cause neurodevelopmental deficits and epilepsy and lead to loss of dendrites in human neurons S Bell, J Rousseau, H Peng, Z Aouabed, P Priam, JF Theroux, M Jefri, ... The American Journal of Human Genetics 104 (5), 815-834, 2019 | 79 | 2019 |
| Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome SG Ghosh, K Becker, H Huang, T Dixon-Salazar, G Chai, V Salpietro, ... The American Journal of Human Genetics 103 (3), 431-439, 2018 | 79 | 2018 |
| PRRT2 regulates synaptic fusion by directly modulating SNARE complex assembly J Coleman, O Jouannot, SK Ramakrishnan, MN Zanetti, J Wang, ... Cell reports 22 (3), 820-831, 2018 | 75 | 2018 |
| PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment M Zollo, M Ahmed, V Ferrucci, V Salpietro, F Asadzadeh, M Carotenuto, ... Brain 140 (4), 940-952, 2017 | 75 | 2017 |
| Zellweger syndrome and secondary mitochondrial myopathy V Salpietro, R Phadke, A Saggar, IP Hargreaves, R Yates, C Fokoloros, ... European Journal of Pediatrics 174, 557-563, 2015 | 72 | 2015 |
| Idiopathic intracranial hypertension: a unifying neuroendocrine hypothesis through the adrenal-brain axis V Salpietro, A Polizzi, LF Bertè, R Chimenz, V Chirico, S Manti, V Ferraù, ... Neuroendocrinol Lett 33 (6), 569-573, 2012 | 71 | 2012 |
| PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation V Chelban, MP Wilson, J Warman Chardon, J Vandrovcova, MN Zanetti, ... Annals of neurology 86 (2), 225-240, 2019 | 69 | 2019 |
| Prolactin in obese children: a bridge between inflammation and metabolic‐endocrine dysfunction V Chirico, S Cannavò, A Lacquaniti, V Salpietro, M Mandolfino, ... Clinical endocrinology 79 (4), 537-544, 2013 | 65 | 2013 |
| Natural history of neurofibromatosis type 2 with onset before the age of 1 year M Ruggieri, AL Gabriele, A Polizzi, V Salpietro, F Nicita, P Pavone, ... Neurogenetics 14, 89-98, 2013 | 65 | 2013 |
