Maaike Bastiaansen

Publications Maaike Bastiaansen

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

Source
Npj genomic medicine - ISSN 2056-7944-9:1 (2024) p. 1-9
Author(s)
    Josephina Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S. Atwal, Antoine Benichou, Clarisse Billon, Jan D. Blankensteijn, Paul Brennan, Stephanie A. Bucks, Ian M. Campbell, Solène Conrad, Stephanie L. Curtis, Majed Dasouki, Carolyn L. Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C. Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari-Tiri, Liina Kuulavainen, Kelvin Lee, Karen J. Low, Alan C. Lu, Morgan L. McManus, Stephen P. Oakley, James Oliver, Nicole M. Organ, Eline Overwater, Nicole Revencu, Alison H. Trainer, Bhavya Trivedi, Claire L.S. Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart Loeys

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

Source
Genetics in medicine - ISSN 1530-0366-24:7 (2022) p. 1583-1591
Author(s)
    Marije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, Justyna Iwaszkiewicz, Maaike Bastiaansen, Ligia Mateiu, Merlijn Nemegeer, Josephina Meester, Alexandra Afenjar, Michelle Amaral, Diana Ballhausen, Sarah Barnett, Magalie Barth, Bob Asselbergh, Katrien Spaas, Bavo Heeman, Jennifer Bassetti, Patrick Blackburn, Marie Schaer, Xavier Blanc, Vincent Zoete, Kari Casas, Thomas Courtin, Diane Doummar, Frédéric Guerry, Boris Keren, John Pappas, Rachel Rabin, Amber Begtrup, Marwan Shinawi, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, Matias Wagner, Alban Ziegler, Elise Schaefer, Benedicte Gerard, Charlotte I De Bie, Sjoerd J B Holwerda, Mary Alice Abbot, Stylianos E Antonarakis, Bart Loeys

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

Source
The American journal of human genetics - ISSN 0002-9297-108:6 (2021) p. 1115-1125
Author(s)