Richard J. Sinke mainly investigates Genetics, Spinocerebellar ataxia, Locus, Molecular biology and Genotype. His research on Genetics frequently connects to adjacent areas such as Attention deficit hyperactivity disorder. His research in Spinocerebellar ataxia intersects with topics in Cerebellar ataxia and Trinucleotide repeat expansion.
His research integrates issues of Peptide sequence, Protein subunit and Northern blot in his study of Molecular biology. His work carried out in the field of Genotype brings together such families of science as Odds ratio, Bioinformatics, Glutamate receptor, Psychiatry and Allele. Richard J. Sinke works mostly in the field of Allele, limiting it down to topics relating to Single-nucleotide polymorphism and, in certain cases, Mutation.
His main research concerns Genetics, Gene, Molecular biology, Exome sequencing and Internal medicine. Spinocerebellar ataxia, Exon, Locus, Genetic heterogeneity and Genotype are the subjects of his Genetics studies. The various areas that he examines in his Spinocerebellar ataxia study include Cerebellar ataxia and Autosomal dominant cerebellar ataxia, Trinucleotide repeat expansion.
His biological study spans a wide range of topics, including Southern blot, Chromosome 12, Breakpoint, Gene mapping and Fluorescence in situ hybridization. His studies examine the connections between Exome sequencing and genetics, as well as such issues in Computational biology, with regards to DNA sequencing. The various areas that Richard J. Sinke examines in his Internal medicine study include Mutation, Endocrinology, Oncology and Schizophrenia.
His primary areas of investigation include Genetics, Exome sequencing, Computational biology, Gene and Exome. Genetics is frequently linked to Ataxia in his study. His work deals with themes such as Fetus, Proband and Radiology, Ultrasound, which intersect with Exome sequencing.
His Computational biology study incorporates themes from Interpretation, Gene mutation and DNA sequencing. His Gene research focuses on subjects like Cardiomyopathy, which are linked to Pediatric cardiology, Critically ill, Oncology and Whole genome sequencing. His work in Exome covers topics such as Bioinformatics which are related to areas like Genetic heterogeneity and Genetic testing.
Richard J. Sinke focuses on Genetics, Exome, Exome sequencing, Medical genetics and Bioinformatics. Many of his studies involve connections with topics such as Ataxia and Genetics. His studies in Exome integrate themes in fields like Cardiomyopathy, Dilated cardiomyopathy, SNP array, Computational biology and DNA sequencing.
He combines subjects such as Vici syndrome, Dystonia, Gene panel, Pediatrics and Genetic testing with his study of Medical genetics. His Bioinformatics research is multidisciplinary, incorporating perspectives in Human genome, Medical diagnosis, Microcephaly, ASPM and Genetic heterogeneity. The Spinocerebellar ataxia study combines topics in areas such as Missense mutation, Neurodegeneration, Purkinje cell, Cell biology and Gene regulatory network.
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A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15q.
S.C. Bakker;E. M. van der Meulen;J.K. Buitelaar;L.A. Sandkuijl.
American Journal of Human Genetics (2003)
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics
Birgit Sikkema-Raddatz;Lennart F. Johansson;Eddy N. de Boer;Rowida Almomani.
Human Mutation (2013)
Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis
B.P.C. van de Warrenburg;R.J. Sinke;C.C. Verschuuren-Bemelmans;H. Scheffer.
Meta-Analysis of Genome-Wide Linkage Scans of Attention Deficit Hyperactivity Disorder
Kaixin Zhou;Astrid Dempfle;Mauricio Arcos-Burgos;Mauricio Arcos-Burgos;Steven C. Bakker.
American Journal of Medical Genetics (2008)
Joint analysis of the DRD5 marker concludes association with attention-deficit/hyperactivity disorder confined to the predominantly inattentive and combined subtypes.
Naomi Lowe;Aiveen Kirley;Ziarih Hawi;Pak Sham.
American Journal of Human Genetics (2004)
Association between an agouti-related protein gene polymorphism and anorexia nervosa
T Vink;A Hinney;A A van Elburg;S H van Goozen.
Molecular Psychiatry (2001)
Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy
Karin Y. van Spaendonck-Zwarts;Karin Y. van Spaendonck-Zwarts;Anna Posafalvi;Maarten P. van den Berg;Denise Hilfiker-Kleiner.
European Heart Journal (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
R H Brakenhoff;M Gerretsen;E M Knippels;M. van Dijk.
Journal of Cell Biology (1995)
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;D B Engle.
Proceedings of the National Academy of Sciences of the United States of America (1993)
Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
Kornelia Neveling;Lilian A. Martinez-Carrera;Irmgard Hölker;Angelien Heister.
American Journal of Human Genetics (2013)
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