Show 20 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Thiffault, Isabelle" or (type any "bookEditor issueEditor" and editor="Thiffault, Isabelle") Add to list Journal Article A1 open access Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, et al. (2021) GENOME MEDICINE. 13(1). Add to list Journal Article A1 open access Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer Kezhi Yan, Justine Rousseau, Keren Machol, Laura A. Cross, Katherine E. Agre, Cynthia Forster Gibson, Anne Goverde, Kendra L. Engleman, Hannah Verdin (UGent) , Elfride De Baere (UGent) , et al. (2020) SCIENCE ADVANCES. 6(4). Add to list Journal Article A1 De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism Illja J Diets, Roos van der Donk, Kristina Baltrunaite, Esmé Waanders, Margot RF Reijnders, Alexander JM Dingemans, Rolph Pfundt, Anneke T Vulto-van Silfhout, Laurens Wiel, Christian Gilissen, et al. (2019) AMERICAN JOURNAL OF HUMAN GENETICS. 104(4). p.758-766