Robin van der Lee

About

Computational biologist / bioinformatics scientist

Employment

Employment history is unavailable.

Education

• Radboud Universiteit Nijmegen PhD
  2011 - 2016

Projects & Funding

Projects & funding information is unavailable.

Publications (28)

• SCN3A-related neurodevelopmental disorder: Clinical case reports and biophysical characterization.
  Channels (Austin, Tex.) 2025 DOI: 10.1080/19336950.2025.2580175
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• CIAO1 and MMS19 deficiency: a lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
  Genetics in medicine : official journal of the American College of Medical Genetics 2024 DOI: 10.1016/j.gim.2024.101104
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• Human germline heterozygous gain-of-functionSTAT6variants cause severe allergic disease
  Journal of Experimental Medicine 2023 DOI: 10.1084/jem.20221755
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• LY-CoV1404 (bebtelovimab) potently neutralizes SARS-CoV-2 variants
  Cell Reports 2022 DOI: 10.1016/j.celrep.2022.110812
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• RevUP, an online scoring system for regulatory variants implicated in rare diseases.
  Bioinformatics (Oxford, England) 2022 DOI: 10.1093/bioinformatics/btac157
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• Adult GAMT deficiency: A literature review and report of two siblings.
  Molecular genetics and metabolism reports 2021 DOI: 10.1016/j.ymgmr.2021.100761
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• Response to Biesecker et al.
  Genetics in medicine : official journal of the American College of Medical Genetics 2021 DOI: 10.1038/s41436-020-01055-z
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• De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
  Brain 2020 DOI: 10.1093/brain/awaa410
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• The role of clinical response to treatment in determining pathogenicity of genomic variants.
  Genetics in medicine : official journal of the American College of Medical Genetics 2020 DOI: 10.1038/s41436-020-00996-9
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• Deregulated Regulators: Disease-Causing cis Variants in Transcription Factor Genes
  Trends in Genetics 2020 DOI: 10.1016/j.tig.2020.04.006
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• A Combined Mass Spectrometry and Data Integration Approach to Predict the Mitochondrial Poly(A) RNA Interacting Proteome.
  Frontiers in cell and developmental biology 2019 DOI: 10.3389/fcell.2019.00283
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• JASPAR 2020: update of the open-access database of transcription factor binding profiles
  Nucleic Acids Research 2019 DOI: 10.1093/nar/gkz1001
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• Strabismus in Children With Intellectual Disability: Part of a Broader Motor Control Phenotype?
  Pediatric Neurology 2019 DOI: 10.1016/j.pediatrneurol.2019.04.002
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• Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
  American journal of human genetics 2019 DOI: 10.1016/j.ajhg.2019.07.015
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• CiliaCarta: An integrated and validated compendium of ciliary genes.
  PloS one 2019 DOI: 10.1371/journal.pone.0216705
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• Curation and bioinformatic analysis of strabismus genes supports functional heterogeneity and proposes candidate genes with connections to RASopathies.
  Gene 2019 DOI: 10.1016/j.gene.2019.02.020
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• Probabilistic data integration identifies reliable gametocyte-specific proteins and transcripts in malaria parasites
  Lisette Meerstein‐Kessel, Robin van der Lee, William J. Stone +17 more
  Scientific Reports 2018 DOI: 10.1038/s41598-017-18840-7
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• JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework
  Nucleic Acids Research 2018 DOI: 10.1093/nar/gkx1126
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• Genome-scale detection of positive selection in nine primates predicts human-virus evolutionary conflicts
  Nucleic Acids Research 2017 DOI: 10.1093/nar/gkx704
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• Integrative genomics of complex molecular systems - Discovering genes involved in immunity, mitochondria and cilia
  2016
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