| Phenotypic heterogeneity of genomic disorders and rare copy-number variants S Girirajan, JA Rosenfeld, BP Coe, S Parikh, N Friedman, A Goldstein, ... New England Journal of Medicine 367 (14), 1321-1331, 2012 | 613 | 2012 |
| How much phenotypic variation can be attributed to parkin genotype? E Lohmann, M Periquet, V Bonifati, NW Wood, G De Michele, AM Bonnet, ... Annals of neurology 54 (2), 176-185, 2003 | 385 | 2003 |
| Parkin mutations are frequent in patients with isolated early‐onset parkinsonism M Periquet, M Latouche, E Lohmann, N Rawal, G De Michele, S Ricard, ... Brain 126 (6), 1271-1278, 2003 | 365 | 2003 |
| The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ... Nature genetics 49 (1), 36-45, 2017 | 312 | 2017 |
| De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy L Claes, B Ceulemans, D Audenaert, K Smets, A Löfgren, J Del‐Favero, ... Human mutation 21 (6), 615-621, 2003 | 259 | 2003 |
| Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations M Zenker, K Lehmann, AL Schulz, H Barth, D Hansmann, R Koenig, ... Journal of medical genetics 44 (2), 131-135, 2007 | 226 | 2007 |
| High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p. Arg1809: genotype–phenotype … K Rojnueangnit, J Xie, A Gomes, A Sharp, T Callens, Y Chen, Y Liu, ... Human mutation 36 (11), 1052-1063, 2015 | 191 | 2015 |
| PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine AR Gardiner, KP Bhatia, M Stamelou, RC Dale, MA Kurian, SA Schneider, ... Neurology 79 (21), 2115-2121, 2012 | 189 | 2012 |
| Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p. F508del, mutation at the CFTR gene in newborns and patients S Raskin, L Pereira-Ferrari, FC Reis, F Abreu, P Marostica, T Rozov, ... Journal of Cystic Fibrosis 7 (1), 15-22, 2008 | 161 | 2008 |
| Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling DAS de Souza, FR Faucz, L Pereira‐Ferrari, VS Sotomaior, S Raskin Andrology 6 (1), 127-135, 2018 | 153 | 2018 |
| Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCδ to mitochondria in spinocerebellar ataxia 10 MC White, R Gao, W Xu, SM Mandal, JG Lim, TK Hazra, M Wakamiya, ... PLoS genetics 6 (6), e1000984, 2010 | 129 | 2010 |
| DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards S Raskin, JA Phillips III, MRS Krishnamani, C Vnencak‐Jones, RA Parker, ... American journal of medical genetics 46 (6), 665-669, 1993 | 126 | 1993 |
| A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy N Goemans, E Mercuri, E Belousova, H Komaki, A Dubrovsky, ... Neuromuscular Disorders 28 (1), 4-15, 2018 | 123 | 2018 |
| Ataxia-telangiectasia—A historical review and a proposal for a new designation: ATM syndrome HAG Teive, A Moro, M Moscovich, WO Arruda, RP Munhoz, S Raskin, ... Journal of the neurological sciences 355 (1-2), 3-6, 2015 | 118 | 2015 |
| A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects FP Favaro, L Alvizi, RM Zechi-Ceide, D Bertola, TM Felix, J de Souza, ... The American Journal of Human Genetics 94 (1), 120-128, 2014 | 118 | 2014 |
| Clinical phenotype of Brazilian families with spinocerebellar ataxia 10 HAG Teive, BB Roa, S Raskin, P Fang, WO Arruda, YC Neto, R Gao, ... Neurology 63 (8), 1509-1512, 2004 | 113 | 2004 |
| The face of Noonan syndrome: Does phenotype predict genotype JE Allanson, A Bohring, HG Dörr, A Dufke, G Gillessen‐Kaesbach, D Horn, ... American journal of medical genetics Part A 152 (8), 1960-1966, 2010 | 97 | 2010 |
| Clinical and epidemiological study of orofacial clefts J Souza, S Raskin Jornal de pediatria 89, 137-144, 2013 | 94 | 2013 |
| Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene L Osborne, G Santis, M Schwarz, K Klinger, T Dörk, I McIntosh, ... Human genetics 89, 653-658, 1992 | 89 | 1992 |
| Spinocerebellar ataxia type 10–a review HAG Teive, RP Munhoz, WO Arruda, S Raskin, LC Werneck, T Ashizawa Parkinsonism & related disorders 17 (9), 655-661, 2011 | 84 | 2011 |
