Targeted next‐generation sequencing can replace Sanger sequencing in clinical diagnostics B Sikkema‐Raddatz, LF Johansson, EN de Boer, R Almomani, LG Boven, ... Human mutation 34 (7), 1035-1042, 2013 | 390 | 2013 |
A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15q SC Bakker, EM Van der Meulen, JK Buitelaar, LA Sandkuijl, DL Pauls, ... The American Journal of Human Genetics 72 (5), 1251-1260, 2003 | 353 | 2003 |
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis BPC Van de Warrenburg, RJ Sinke, CC Verschuuren–Bemelmans, ... Neurology 58 (5), 702-708, 2002 | 329 | 2002 |
Meta‐analysis of genome‐wide linkage scans of attention deficit hyperactivity disorder K Zhou, A Dempfle, M Arcos‐Burgos, SC Bakker, T Banaschewski, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 147 …, 2008 | 273 | 2008 |
Joint analysis of the DRD5 marker concludes association with attention-deficit/hyperactivity disorder confined to the predominantly inattentive and combined subtypes N Lowe, A Kirley, Z Hawi, P Sham, H Wickham, CJ Kratochvil, SD Smith, ... The American Journal of Human Genetics 74 (2), 348-356, 2004 | 238 | 2004 |
Association between an agouti-related protein gene polymorphism and anorexia nervosa T Vink, A Hinney, AA Van Elburg, SHM Van Goozen, LA Sandkuijl, ... Molecular psychiatry 6 (3), 325-328, 2001 | 226 | 2001 |
Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy KY van Spaendonck-Zwarts, A Posafalvi, MP van den Berg, ... European heart journal 35 (32), 2165-2173, 2014 | 215 | 2014 |
The human E48 antigen, highly homologous to the murine Ly-6 antigen ThB, is a GPI-anchored molecule apparently involved in keratinocyte cell-cell adhesion. RH Brakenhoff, M Gerretsen, EM Knippels, M Van Dijk, H Van Essen, ... The Journal of cell biology 129 (6), 1677-1689, 1995 | 179 | 1995 |
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy K Neveling, LA Martinez-Carrera, I Hölker, A Heister, A Verrips, ... The American Journal of Human Genetics 92 (6), 946-954, 2013 | 178 | 2013 |
Cloning, chromosomal localization, and functional expression of the alpha 1 subunit of the L-type voltage-dependent calcium channel from normal human heart. D Schultz, G Mikala, A Yatani, DB Engle, DE Iles, B Segers, RJ Sinke, ... Proceedings of the National Academy of Sciences 90 (13), 6228-6232, 1993 | 161 | 1993 |
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19 A Duarri, J Jezierska, M Fokkens, M Meijer, HJ Schelhaas, ... Annals of neurology 72 (6), 870-880, 2012 | 157 | 2012 |
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23 G Bakalkin, H Watanabe, J Jezierska, C Depoorter, ... The American Journal of Human Genetics 87 (5), 593-603, 2010 | 148 | 2010 |
Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch–French cohort BPC van de Warrenburg, H Hendriks, A Dürr, MCA van Zuijlen, ... Annals of neurology 57 (4), 505-512, 2005 | 141 | 2005 |
Peripheral nerve involvement in spinocerebellar ataxias BPC van de Warrenburg, NC Notermans, HJ Schelhaas, N van Alfen, ... Archives of neurology 61 (2), 257-261, 2004 | 135 | 2004 |
Improving the diagnostic yield of exome-sequencing by predicting gene–phenotype associations using large-scale gene expression analysis P Deelen, S van Dam, JC Herkert, JM Karjalainen, H Brugge, KM Abbott, ... Nature communications 10 (1), 2837, 2019 | 127 | 2019 |
Intermediate CAG repeat lengths (53, 54) for MJD/SCA3 are associated with an abnormal phenotype N Van Alfen, RJ Sinke, MJ Zwarts, A Gabreëls‐Festen, P Praamstra, ... Annals of Neurology: Official Journal of the American Neurological …, 2001 | 124 | 2001 |
An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia BJ Jungerius, MLC Hoogendoorn, SC Bakker, R Van't Slot, AF Bardoel, ... Molecular psychiatry 13 (11), 1060-1068, 2008 | 122 | 2008 |
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia EAR Nibbeling, A Duarri, CC Verschuuren-Bemelmans, MR Fokkens, ... Brain 140 (11), 2860-2878, 2017 | 118 | 2017 |
Rapid targeted genomics in critically ill newborns CC Van Diemen, WS Kerstjens-Frederikse, KA Bergman, TJ De Koning, ... Pediatrics 140 (4), 2017 | 118 | 2017 |
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family BPC Van De Warrenburg, DS Verbeek, SJ Piersma, FAM Hennekam, ... Neurology 61 (12), 1760-1765, 2003 | 118 | 2003 |