D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics D-index 56 Citations 7,689 189 World Ranking 2723 National Ranking 96

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

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 most cited work include:

  • A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15q. (231 citations)
  • Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics (205 citations)
  • Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis (184 citations)

What are the main themes of his work throughout his whole career to date?

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.

He most often published in these fields:

  • Genetics (40.87%)
  • Gene (15.87%)
  • Molecular biology (15.87%)

What were the highlights of his more recent work (between 2014-2021)?

  • Genetics (40.87%)
  • Exome sequencing (13.94%)
  • Computational biology (8.65%)

In recent papers he was focusing on the following fields of study:

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.

Between 2014 and 2021, his most popular works were:

  • Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia (52 citations)
  • Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels (52 citations)
  • Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. (51 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Genetics

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.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

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)

350 Citations

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)

334 Citations

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.
Neurology (2002)

302 Citations

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)

243 Citations

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)

233 Citations

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)

223 Citations

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)

183 Citations

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)

177 Citations

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)

161 Citations

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)

150 Citations

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