Laurens van de Wiel

Laurens van de Wiel

Bioinformatics Research Scientist

Publications

A comprehensive overview including citation counts can be found on my Google Scholar profile. Some of my work has been featured in the media, see here.

Selected Publications

* authors contributed equally

2024

  1. M. Dawood, et al. GREGoR: Accelerating Genomics for Rare Diseases. arXiv preprint, December 2024
  2. V.D. Nair, et al. Molecular adaptations in response to exercise training are associated with tissue-specific transcriptomic and epigenomic signatures. Cell Genomics, May 2024.
  3. J.X. Chong, et al. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. Genetics in Medicine, October 2024.
  4. D. Amar, et al. The mitochondrial multi-omic response to exercise training across rat tissues. Cell Metabolism, May 2024.

2023

  1. L. Wiel*, J.E Hampstead*, et al. de novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders. The American Journal of Human Genetics, January 2023
  2. D.S. Kim*, L. Wiel*, E.A. Ashley. Mind the Gap: The Complete Human Genome Unlocks Benefits for Clinical Genomics. Clinical Chemistry, January 2023.
  3. T. Li*, N Ferraro* et al. The functional impact of rare variation across the regulatory cascade. Cell Genomics, October 2023.
  4. M.H. Wojcik, et al. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions. The American Journal of Human Genetics, August 2023.

2021

  1. J. den Hoed*, E. de Boer*, N. Voisin*, et al. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. The American Journal of Human Genetics, February 2021.

2020

  1. J. Kaplanis*, K.E. Samocha*, L. Wiel*, Z. Zhang*, et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, Oct 2020
  2. M.J. Nabais Sá, et al. De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy. Genetics in Medicine, April 2020.
  3. M.J. Nabais Sá, et al. De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. The American Journal of Human Genetics, March 2020.

2019

  1. L. Snijders Blok, et al. De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder. The American Journal of Human Genetics, August 2019.
  2. L. Wiel, et al. MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains. Human Mutation, May 2019.
  3. I.J. Diets, et al. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. The American Journal of Human Genetics, April 2019.

2018

  1. M. Wesdorp, et al. Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction. Human Genetics, May 2018.

2017

  1. L. Wiel, et al. Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics. Human Mutation, November 2017.
  2. S.H. Lelieveld*, L. Wiel*, et al. Spatial clustering of de novo missense mutations identifies candidate neurodevelopmental disorder-associated genes. The American Journal of Human Genetics, September 2017.
  3. R. van der Lee, L. Wiel, T.J.P. van Dam, M.A. Huynen. Genome-scale detection of positive selection in nine primates predicts human-virus evolutionary conflicts. Nucleic Acids Research, August 2017.

2015

  1. L. Wiel, T. Heskes, E. Levin. KeCo: Kernel-Based Online Co-agreement Algorithm. Discovery Science, October 2015.