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Both patients\u2019 cells show prolonged mitosis duration, chromosome segregation errors, and an overall functional spindle assembly checkpoint. However, while BUB1 levels mostly affect BUBR1 kinetochore recruitment, impaired kinase activity prohibits centromeric recruitment of Aurora B, SGO1, and TOP2A, correlating with anaphase bridges, aneuploidy, and defective sister chromatid cohesion. We do not observe accelerated cohesion fatigue. We hypothesize that unresolved DNA catenanes increase cohesion strength, with concomitant increase in anaphase bridges. In conclusion,\n            <jats:italic>BUB1<\/jats:italic>\n            mutations cause a neurodevelopmental disorder, with clinical and cellular phenotypes that partially resemble previously described syndromes, including autosomal recessive primary microcephaly, mosaic variegated aneuploidy, and cohesinopathies.\n          <\/jats:p>","DOI":"10.1126\/sciadv.abk0114","type":"journal-article","created":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T18:59:26Z","timestamp":1642618766000},"source":"Crossref","is-referenced-by-count":36,"title":["Biallelic\n            <i>BUB1<\/i>\n            mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation"],"prefix":"10.1126","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6004-3286","authenticated-orcid":true,"given":"Sara","family":"Carvalhal","sequence":"first","affiliation":[{"name":"Instituto Gulbenkian de Ci\u00eancia, R. Q.ta Grande 6, 2780-156 Oeiras, Portugal."},{"name":"Algarve Biomedical Center Research Institute, Universidade do Algarve, 8005-139 Faro, Portugal."},{"name":"Centre for Biomedical Research, Universidade do Algarve, 8005-139 Faro, Portugal."}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0001-8799","authenticated-orcid":true,"given":"Ingrid","family":"Bader","sequence":"additional","affiliation":[{"name":"Unit of Clinical Genetics, Paracelsus Medical University, Salzburg, Austria."}]},{"given":"Martin A.","family":"Rooimans","sequence":"additional","affiliation":[{"name":"Cancer Center Amsterdam, Amsterdam University Medical Centers, Oncogenetics Section, De Boelelaan 1118, 1081 HV Amsterdam, Netherlands."}]},{"given":"Anneke B.","family":"Oostra","sequence":"additional","affiliation":[{"name":"Cancer Center Amsterdam, Amsterdam University Medical Centers, Oncogenetics Section, De Boelelaan 1118, 1081 HV Amsterdam, Netherlands."}]},{"given":"Jesper A.","family":"Balk","sequence":"additional","affiliation":[{"name":"Cancer Center Amsterdam, Amsterdam University Medical Centers, Oncogenetics Section, De Boelelaan 1118, 1081 HV Amsterdam, Netherlands."}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4215-8258","authenticated-orcid":true,"given":"Ren\u00e9 G.","family":"Feichtinger","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria."}]},{"given":"Christine","family":"Beichler","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, Graz, Austria."}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0105-955X","authenticated-orcid":true,"given":"Michael R.","family":"Speicher","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, Graz, Austria."}]},{"given":"Johanna M.","family":"van Hagen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HV Amsterdam, Netherlands."}]},{"given":"Quinten","family":"Waisfisz","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HV Amsterdam, Netherlands."}]},{"given":"Mieke","family":"van Haelst","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HV Amsterdam, Netherlands."}]},{"given":"Martijn","family":"Bruijn","sequence":"additional","affiliation":[{"name":"Northwest Clinics, Wilhelminalaan 12, 1815 JD Alkmaar, Netherlands."}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5332-3386","authenticated-orcid":true,"given":"Alexandra","family":"Tavares","sequence":"additional","affiliation":[{"name":"Instituto Gulbenkian de Ci\u00eancia, R. 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