Publications by authors named "R H T van Beek"

Article Synopsis
  • Clinical exome sequencing (ES) aids in diagnosing rare genetic disorders by analyzing protein-coding sequences, but 40-60% of patients still lack a conclusive diagnosis, with some revealing monoallelic variants in recessive disorders.* -
  • The study explored short-read genome sequencing (GS) on 174 individuals with identified monoallelic variants, successfully uncovering additional pathogenic variants in five patients and rare non-coding variants in 24 others, with three variants confirmed to affect splicing.* -
  • Overall, GS increased the diagnostic yield, identifying a likely second pathogenic variant in 4.6% of the cohort and providing a possible diagnosis for 12.1%, suggesting it could be a valuable first-tier
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In mammals, early embryonic development exhibits highly unusual spatial positioning of genomic regions at the nuclear lamina, but the mechanisms underpinning this atypical genome organization remain elusive. Here, we generated single-cell profiles of lamina-associated domains (LADs) coupled with transcriptomics, which revealed a striking overlap between preimplantation-specific LAD dissociation and noncanonical broad domains of H3K27me3. Loss of H3K27me3 resulted in a restoration of canonical LAD profiles, suggesting an antagonistic relationship between lamina association and H3K27me3.

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Microbiology education has a serious handicap - the lack of visibility of the players of the subject and their interactions - which engenders a disproportionate reliance upon multimedia teaching aids (MTAs). The International Microbiology Literacy Initiative (IMiLI) is creating educational resources in societally-relevant microbiology complemented by appropriate MTAs. However, proper guidance supporting microbiology educators in locating and selecting, or commissioning the creation of, adequate MTAs for different target audiences and learning objectives is lacking.

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Wastewater-based surveillance (WBS) has become a widespread method to monitor transmission of SARS-CoV-2 and other human pathogens in Europe. We conducted a survey about WBS systems' objectives, approaches, representativeness and usefulness in 10 invited European countries in 2023, i.e.

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Management of suspected early-onset sepsis (EOS) is undergoing continuous evolution aiming to limit antibiotic overtreatment, yet current data on the level of overtreatment are only available for a select number of countries. This study aimed to determine antibiotic initiation and continuation rates for suspected EOS, along with the incidence of culture-proven EOS in The Netherlands. In this retrospective study from 2019 to 2021, data were collected from 15 Dutch hospitals, comprising 13 regional hospitals equipped with Level I-II facilities and 2 academic hospitals equipped with Level IV facilities.

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