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Clinical Genetics|May 3, 2019
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndromeKatja Kloth, Sina Renner, Gunter Burmester, et al.Journal of Neurology|May 6, 2020
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhageThomas Sauvigny, Malik Alawi, Linda Krause, et al.The Journal of Clinical Investigation|October 7, 2025
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissectionTheresa Nauth, Melanie Philipp, Sina Renner, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 25, 2019
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patientsSina Renner, Helke Schüler, Malik Alawi, et al.Pageof 1