| A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis AL Nishimura, M Mitne-Neto, HCA Silva, A Richieri-Costa, S Middleton, ... The American Journal of Human Genetics 75 (5), 822-831, 2004 | 1235 | 2004 |
| Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis MA Willemsen, MM Verbeek, EJ Kamsteeg, JF de Rijk-van Andel, A Aeby, ... Brain 133 (6), 1810-1822, 2010 | 244 | 2010 |
| 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 | 214 | 2019 |
| The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported GHB Maegawa, T Stockley, M Tropak, B Banwell, S Blaser, F Kok, ... Pediatrics 118 (5), e1550-e1562, 2006 | 210 | 2006 |
| Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis GHB Maegawa, M Tropak, J Buttner, T Stockley, F Kok, JTR Clarke, ... Journal of Biological Chemistry 282 (12), 9150-9161, 2007 | 199 | 2007 |
| A clinical study of 77 patients with mucopolysaccharidosis type II IVD Schwartz, MG Ribeiro, JG Mota, MBP Toralles, P Correia, D Horovitz, ... Acta Paediatrica 96, 63-70, 2007 | 178 | 2007 |
| Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome OT Suzuki, AL Sertié, VM Der Kaloustian, F Kok, M Carpenter, J Murray, ... The American Journal of Human Genetics 71 (6), 1320-1329, 2002 | 163 | 2002 |
| Altered expression of ALDP in X-linked adrenoleukodystrophy. PA Watkins, SJ Gould, MA Smith, LT Braiterman, HM Wei, F Kok, ... American journal of human genetics 57 (2), 292, 1995 | 150 | 1995 |
| Impact of molecular mechanisms, including deletion size, on Prader–Willi syndrome phenotype: study of 75 patients MC Varela, F Kok, N Setian, CA Kim, CP Koiffmann Clinical genetics 67 (1), 47-52, 2005 | 143 | 2005 |
| Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations ACV Krepischi-Santos, AM Vianna-Morgante, FS Jehee, ... Cytogenetic and genome research 115 (3-4), 254-261, 2006 | 141 | 2006 |
| Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects MC Varela, F Kok, PA Otto, CP Koiffmann European Journal of Human Genetics 12 (12), 987-992, 2004 | 140 | 2004 |
| Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP A Van Dijck, AT Vulto-van Silfhout, E Cappuyns, IM van der Werf, ... Biological psychiatry 85 (4), 287-297, 2019 | 138 | 2019 |
| A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G) NM Vieira, MS Naslavsky, L Licinio, F Kok, D Schlesinger, M Vainzof, ... Human molecular genetics 23 (15), 4103-4110, 2014 | 136 | 2014 |
| Mutational analysis of patients with X‐linked adrenoleukodystrophy F Kok, S Neumann, CO Sarde, S Zheng, KH Wu, HM Wei, J Bergin, ... Human mutation 6 (2), 104-115, 1995 | 129 | 1995 |
| HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond C Marini, A Porro, A Rastetter, C Dalle, I Rivolta, D Bauer, R Oegema, ... Brain 141 (11), 3160-3178, 2018 | 126 | 2018 |
| Epilepsy in patients with Angelman syndrome caused by deletion of the chromosome 15q11-13 KD Valente, CP Koiffmann, C Fridman, M Varella, F Kok, JQ Andrade, ... Archives of neurology 63 (1), 122-128, 2006 | 119 | 2006 |
| Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis P Mohassel, S Donkervoort, MA Lone, M Nalls, K Gable, SD Gupta, ... Nature medicine 27 (7), 1197-1204, 2021 | 117 | 2021 |
| Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type C Nogueira, C Aiello, R Cerone, E Martins, U Caruso, I Moroni, C Rizzo, ... Molecular genetics and metabolism 93 (4), 475-480, 2008 | 115 | 2008 |
| Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita G Ravenscroft, F Nolent, S Rajagopalan, AM Meireles, KJ Paavola, ... The American Journal of Human Genetics 96 (6), 955-961, 2015 | 114 | 2015 |
| Vitamin B12 deficiency in infancy as a cause of developmental regression EB Casella, M Valente, JM de Navarro, F Kok Brain and Development 27 (8), 592-594, 2005 | 111 | 2005 |
