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Genetics

D-Index
59
Citations
9573
World Ranking
3270
National Ranking
115

Overview

Richard J. Sinke is affiliated with the University Medical Center Groningen in the Netherlands. Their research primarily spans the fields of biochemistry, genetics, and molecular biology, with a focus on genetics and its applications in medicine. A significant portion of their work includes clinical biochemistry and cardiology, reflecting a multidisciplinary approach to medical genetics.

Their research areas concentrate on genomics and rare diseases, genetic associations and epidemiology, metabolism and genetic disorders, and genomic variations and chromosomal abnormalities. Additional topics include genetics and neurodevelopmental disorders, biomedical text mining and ontologies, as well as immunodeficiency and autoimmune disorders.

Sinke's recent publications illustrate a range of investigations within genetic medicine and neonatal screening. Notable papers include:

  • CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations (2020, Genome Medicine)
  • Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead (2022, International Journal of Neonatal Screening)
  • Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands (2023, European Journal of Pediatrics)
  • Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients (2021, International Journal of Cardiology)
  • Feasibility of predicting allele specific expression from DNA sequencing using machine learning (2021, Scientific Reports)

Their frequent co-authors include Birgit Sikkema-Raddatz, Morris A. Swertz, K. Joeri van der Velde, Mariëlle van Gijn, and Wilhelmina S. Kerstjens-Frederikse, indicating collaboration across multiple studies and projects.

Their work is often published in journals closely related to genetics and pediatrics, with frequent venue appearances in the International Journal of Neonatal Screening, Genome Medicine, European Journal of Pediatrics, International Journal of Cardiology, and European Journal of Paediatric Neurology.

Best Publications

  • Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics

    Birgit Sikkema-Raddatz;Lennart F. Johansson;Eddy N. de Boer;Rowida Almomani

  • 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

  • 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

  • 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

  • Association between an agouti-related protein gene polymorphism and anorexia nervosa

    T Vink;A Hinney;A A van Elburg;S H van Goozen

  • 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

  • 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

  • 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

  • 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

  • Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

    Anna Duarri;Justyna Jezierska;Michiel Fokkens;Michel Meijer

  • Rapid Targeted Genomics in Critically Ill Newborns

    Cleo C van Diemen;Wilhelmina S Kerstjens-Frederikse;Klasien A Bergman;Tom J de Koning;Tom J de Koning

  • Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23

    Georgy Bakalkin;Hiroyuki Watanabe;Justyna Jezierska;Cloë Depoorter

  • Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort

    Bart P C van de Warrenburg;Harrie Hendriks;Alexandra Dürr;Martin C A van Zuijlen

  • Peripheral nerve involvement in spinocerebellar ataxias

    Bart P. C. van de Warrenburg;Nicolette C. Notermans;Helenius J. Schelhaas;Nens van Alfen

  • Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

    Patrick Deelen;Sipko van Dam;Johanna C Herkert;Juha M Karjalainen

  • Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype.

    N van Alfen;Richard Sinke;M J Zwarts;A Gabreëls-Festen

  • An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia

    B. J. Jungerius;M. L. C. Hoogendoorn;S. C. Bakker;R. van't Slot

  • Overrepresentation of chromosome 12p sequences and karyotypic evolution in i(12p)-negative testicular germ-cell tumors revealed by fluorescence in situ hybridization

    R.F. Suijkerbuijk;R.J. Sinke;A.M. Meloni;J.M. Parrington

  • Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family

    B P C van de Warrenburg;D S Verbeek;Sjouke Piersma;F A M Hennekam

Frequent Co-Authors

Morris A. Swertz
Morris A. Swertz University Medical Center Groningen
Cisca Wijmenga
Cisca Wijmenga University Medical Center Groningen
Rolf H. Sijmons
Rolf H. Sijmons University of Groningen
René S. Kahn
René S. Kahn Icahn School of Medicine at Mount Sinai
Lude Franke
Lude Franke University Medical Center Groningen
Marcel F. Jonkman
Marcel F. Jonkman University Medical Center Groningen
Peter L. Pearson
Peter L. Pearson Universidade de São Paulo
Patrick Deelen
Patrick Deelen University Medical Center Groningen
Roel A. Ophoff
Roel A. Ophoff University of California, Los Angeles

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