Publications by authors named "Anouk Olthof"

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21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation.
Anouk Olthof, Marelle J Bouva, Hedi L Claahsen-van der Grinten, Dineke Westra, Eugènie Dekkers

Arch Dis Child· December 2025

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A role for human senataxin in contending with pausing and backtracking during transcript elongation.
Zhong Han, Shiqing Fu, Jens Vilstrup Johansen, David Lopez Martinez, Jiangman Lou, Anouk M Olthof

Mol Cell· November 2025

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Neonatal reference intervals for serum steroid hormone concentrations measured by LC-MS/MS.
Anouk Olthof, Jolanda C Naafs, Nitash Zwaveling-Soonawala, Charlotte A Heinen, Sabine E Hannema

Clin Chem Lab Med· March 2025

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Steroid hormone concentrations in dried blood spots: A comparison between capillary and venous blood samples.
Anouk Olthof, Vera H de Kleijne, Anita Boelen, Annemieke C Heijboer

Clin Chim Acta· February 2025

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Stability of steroid hormones in dried blood spots (DBS).
Anouk Olthof, Jacquelien J Hillebrand, Wjera V Wickenhagen, Anita Boelen, Annemieke C Heijboer

Clin Chem Lab Med· November 2024

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Taxonomy of introns and the evolution of minor introns.
Anouk M Olthof, Charles F Schwoerer, Kaitlin N Girardini, Audrey L Weber, Karen Doggett

Nucleic Acids Res· August 2024

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Minor intron-containing genes as an ancient backbone for viral infection?
Stefan Wuchty, Alisa K White, Anouk M Olthof, Kyle Drake, Adam J Hume

PNAS Nexus· January 2024

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Transcription-Coupled Nucleotide Excision Repair and the Transcriptional Response to UV-Induced DNA Damage.
Nicolás Nieto Moreno, Anouk M Olthof, Jesper Q Svejstrup

Annu Rev Biochem· June 2023

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Introns: the "dark matter" of the eukaryotic genome.
Kaitlin N Girardini, Anouk M Olthof, Rahul N Kanadia

Front Genet· May 2023

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The emerging significance of splicing in vertebrate development.
Anouk M Olthof, Alisa K White, Rahul N Kanadia

Development· October 2022

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Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns.
Anouk M Olthof, Alisa K White, Stephen Mieruszynski, Karen Doggett, Madisen F Lee

Nucleic Acids Res· April 2021

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Disrupted minor intron splicing is prevalent in Mendelian disorders.
Anouk M Olthof, Jeffrey S Rasmussen, Philippe M Campeau, Rahul N Kanadia

Mol Genet Genomic Med· September 2020

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Minor intron splicing revisited: identification of new minor intron-containing genes and tissue-dependent retention and alternative splicing of minor introns.
Anouk M Olthof, Katery C Hyatt, Rahul N Kanadia

BMC Genomics· August 2019

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Minor spliceosome inactivation causes microcephaly, owing to cell cycle defects and death of self-amplifying radial glial cells.
Marybeth Baumgartner, Anouk M Olthof, Gabriela S Aquino, Katery C Hyatt, Christopher Lemoine

Development· August 2018

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Network-based bioinformatics analysis of spatio-temporal RNA-Seq data reveals transcriptional programs underpinning normal and aberrant retinal development.
Devi Krishna Priya Karunakaran, Sahar Al Seesi, Abdul Rouf Banday, Marybeth Baumgartner, Anouk Olthof

BMC Genomics· August 2016

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