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Proceedings of the National Academy of Sciences of the United States of America|February 18, 2016
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defectHiva Fassihi, Mieran Sethi, Heather Fawcett, et al.DNA Repair|January 19, 2010
A novel radiosensitive SCID patient with a pronounced G(2)/M sensitivityWouter W Wiegant, Matty Meyers, Nicole S Verkaik, et al.EMBO Molecular Medicine|October 14, 2025
Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissueBauke V Schomakers, Adriana S Passadouro, Maria M Trętowicz, et al.Frontiers in Cell and Developmental Biology|July 7, 2020
Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-FactorRinse W Barendsen, Inge M E Dijkstra, Wouter F Visser, et al.Frontiers in Cell and Developmental Biology|February 15, 2021
Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-FactorRinse W Barendsen, Inge M E Dijkstra, Wouter F Visser, et al.Science (New York, N.Y.)|February 22, 2024
Emission lines due to ionizing radiation from a compact object in the remnant of Supernova 1987AC Fransson, M J Barlow, P J Kavanagh, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2024
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disordersClara D M van Karnebeek, Maja Tarailo-Graovac, René Leen, et al.Science Advances|February 26, 2025
When the wild things are: Defining mammalian diel activity and plasticityKadambari Devarajan, Mason Fidino, Zach J Farris, et al.Pageof 10