Page 250 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Appendix lV
Publications in international peer-reviewed journals
Emma N.M.M. von Scheibler, MD; Agnies M. van Eeghen, MD, PhD; Tom J.
de Koning, MD, PhD; Mark L. Kuijf, MD, PhD; Janneke R. Zinkstok, MD, PhD;
Annelieke R. Müller; Thérèse A.M.J. van Amelsvoort, MD, PhD; Erik Boot, MD,
PhD. Parkinsonism in genetic neurodevelopmental disorders: A systematic
review. Mov Dis Clin Pract. 2022. DOI: 10.1002/mdc3.13577. (Open Access)
Emma N.M.M. von Scheibler, MD; Thérèse A.M.J. van Amelsvoort, MD,
PhD; Claudia Vingerhoets, PhD; Agnies M. van Eeghen, MD, PhD; Erik Boot,
MD, PhD. Post-traumatic stress in adults with 22q11.2 deletion syndrome.
BJPsych Open, 2022. DOI: 10.1192/bjo.2022.525. (Open Access)
Emma N.M.M. von Scheibler, Emy S. van der Valk Bouman, Myrthe A.
Nuijts, Noël J.C. Bauer, Tos T.J.M. Berendschot, Pit Vermeltfoort, Levinus
A. Bok, Agnies M. van Eeghen, Michiel L. Houben, Thérèse A.M.J. van
Amelsvoort, Erik Boot, Michelle B. van Egmond-Ebbeling. Ocular findings in
22q11.2 deletion syndrome: A systematic literature review and results of a
Dutch multicenter study. Am J Med Genet A. 2022 Feb;188(2):569-578. doi:
10.1002/ajmg.a.62556. Epub 2021 Nov 12. PMID: 34773366. (Open Access)
Friederike Ehrhart, Ana Silva, Therese van Amelsvoort, Emma von
Scheibler, Chris Evelo, David E.J. Linden. Converging pathways
found in copy number variation syndromes with high
schizophrenia risk. bioRxiv 2022.02.07.479370; doi: https://doi.
org/10.1101/2022.02.07.479370. (Preprint)
Submitted and in progress articles
Emma N.M.M. von Scheibler, Josine C.C. Widdershoven, Denise C.P.B.M.
van Barneveld, Nina Schröder, Agnies M. van Eeghen, Thérèse A.M.J.
van Amelsvoort, Erik Boot. Hearing loss and history of otolaryngologic
conditions in adults with 22q11.2DS. Submitted.
Emma N.M.M. von Scheibler, Abhishek Appaji, Tos T.J.M. Berendschot,
Noël J.C. Bauer, Naren P. Rao, Agnies M. van Eeghen, Thérèse A.M.J. van
Amelsvoort, Erik Boot. Optometry in adults with microdeletion 22q11.2: the
eye as a window to the brain. Submitted.
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