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

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity : a retrospective cohort study

Source
eLife - ISSN 2050-084X-11 (2022) p. 1-24
Author(s)
    Anne Hebert, Annet Simons, Janneke H.M. Schuurs-Hoeijmakers, Hans J.P.M. Koenen, Evelien Zonneveld-Huijssoon, Stefanie S.V. Henriet, Ellen J.H. Schatorjé, Esther P.A.H. Hoppenreijs, Erika K.S.M. Leenders, Etienne J.M. Janssen, Gijs W.E. Santen, Sonja A. de Munnik, Simon V. van Reijmersdal, Esther van Rijssen, Simone Kersten, Mihai G. Netea, Ruben L. Smeets, Frank L. van de Veerdonk, Alexander Hoischen, Caspar I. van der Made