Maaike Bastiaansen

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

A. V. Vulto-van Silfhout, S. Antonarakis, B. Asselbergh, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.

Anthony R. Dallosso, J. Rosenfeld, A. Pagnamenta, 2021, American journal of human genetics.