DDX3X-related neurodevelopmental disorder in males : presenting a new cohort of 19 males and a literature review

Source
European journal of human genetics - ISSN 1018-4813- (2025) p.
Author(s)
    Milou G.P. Kennis, Dmitrijs Rots, Arjan Bouman, Charlotte W. Ockeloen, Caroline Boelen, Carlo L.M. Marcelis, Bert B.A. de Vries, Mariet W. Elting, Quinten Waisfisz, Mohnish Suri, Esperanza Font-Montgomery, Dawn S. Peck, Deirdre E. Donnelly, R. Curtis Rogers, Ruth Richardson, Roseline Caumes, Boris Chaumette, Cecile Louveau, Suzanne C.E.H. Sallevelt, Saskia M. Maas, Jeroen J. Smits, Mieke M. van Haelst, Rebecca J. Levy, Helen Stewart, Bart Loeys, Rolph Pfundt, Tjitske Kleefstra, Lot Snijders Blok

Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals

Source
Journal of medical genetics - ISSN 0022-2593-62:3 (2025) p. 199-205
Author(s)
    Julie Richer, Joe Davis Velchev, Sharan Goobie, Christie A. Boswell-Patterson, Ingrid M.B.H. van de Laar, Judith M.A. Verhagen, Marja W. Wessels, Jolien W. Roos-Hesselink, Ilse Luyckx, Hussein Al-Amodi, Michael W.A. Chu, Anne-Marie Laberge, Bekim Sadikovic, Tugce Balci, Aline Verstraeten, Bart Loeys

Interpretation and classification of FBN1 variants associated with Marfan syndrome : consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel

Source
Genome medicine - ISSN 1756-994X-16:1 (2024) p. 1-14
Author(s)
    A. Drackley, C. Somerville, P. Arnaud, L.M. Baudhuin, N. Hanna, M.L. Kluge, K. Kotzer, C. Boileau, L. Bronicki, B. Callewaert, A. Cecchi, H. Dietz, D. Guo, S. Harris, O. Jarinova, M. Lindsay, L. Little, Bart Loeys, G. Maccarrick, Josephina Meester, D. Milewicz, T. Morisaki, H. Morisaki, D. Murdock, M. Renard, J. Richer, L. Robert, M. Ouzounian, Lut Van Laer, J. De Backer, L. Muino-Mosquera