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| A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing … FJ Del Castillo, M Rodriguez-Ballesteros, A Alvarez, T Hutchin, ... Journal of medical genetics 42 (7), 588-594, 2005 | 374 | 2005 |
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| The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy S Fehr, M Wilson, J Downs, S Williams, A Murgia, S Sartori, M Vecchi, ... European Journal of Human Genetics 21 (3), 266-273, 2013 | 317 | 2013 |
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| Spontaneous partial regression of low-grade glioma in children with neurofibromatosis-1: a real possibility G Perilongo, P Moras, C Carollo, A Battistella, M Clementi, AM Laverda, ... Journal of child neurology 14 (6), 352-356, 1999 | 120 | 1999 |
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| Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria R Artuso, MA Mencarelli, R Polli, S Sartori, F Ariani, M Pollazzon, ... Brain and Development 32 (1), 17-24, 2010 | 110 | 2010 |
| Diencephalic syndrome and disseminated juvenile pilocytic astrocytomas of the hypothalamic‐optic chiasm region G Perilongo, C Carollo, L Salviati, A Murgia, M Pillon, G Basso, ... Cancer: Interdisciplinary International Journal of the American Cancer …, 1997 | 109 | 1997 |
| A novel DFNB1 deletion allele supports the existence of a distant cis‐regulatory region that controls GJB2 and GJB6 expression E Wilch, H Azaiez, RA Fisher, J Elfenbein, A Murgia, R Birkenhäger, ... Clinical genetics 78 (3), 267-274, 2010 | 98 | 2010 |
| Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy D Mei, C Marini, F Novara, BD Bernardina, T Granata, E Fontana, ... Epilepsia 51 (4), 647-654, 2010 | 92 | 2010 |
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| Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene C Cybulski, K Krzystolik, A Murgia, B Gorski, T Dębniak, A Jakubowska, ... Journal of medical genetics 39 (7), e38-e38, 2002 | 80 | 2002 |
| Connexin 26 35delG does not represent a mutational hotspot CR Rothrock, A Murgia, EL Sartorato, E Leonardi, S Wei, SL Lebeis, ... Human genetics 113, 18-23, 2003 | 74 | 2003 |
| Characterization of intellectual disability and autism comorbidity through gene panel sequencing MC Aspromonte, M Bellini, A Gasparini, M Carraro, E Bettella, R Polli, ... Human mutation 40 (9), 1346-1363, 2019 | 72 | 2019 |
| Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene N Hilgert, MJ Huentelman, AQ Thorburn, E Fransen, N Dieltjens, ... European journal of human genetics 17 (4), 517-524, 2009 | 64 | 2009 |
| Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders H Guo, E Bettella, PC Marcogliese, R Zhao, JC Andrews, TJ Nowakowski, ... Nature communications 10 (1), 4679, 2019 | 59 | 2019 |
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