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richard sinke
richard sinke
Professor of Genome Analysis, dept. Genetics (MGE), University Medical Center Groningen
Verified email at ziggo.nl - Homepage
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Cited by
Cited by
Year
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
3872013
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
3532003
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
3252002
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
2692008
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
2402004
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
2252001
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
2112014
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
1771995
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
1742013
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
1621993
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
1532012
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
1462010
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
1372005
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
1342004
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
1252001
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
1202008
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
1192003
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
1182019
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
1152017
Overrepresentation of chromosome 12p sequences and karyotypic evolution in i (12p)-negative testicular germ-cell tumors revealed by fluorescence in situ hybridization
RF Suijkerbuijk, RJ Sinke, AM Meloni, JM Parrington, J Van Echten, ...
Cancer genetics and cytogenetics 70 (2), 85-93, 1993
1131993
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Articles 1–20