Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

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European journal of human genetics - ISSN 1018-4813- (2025) p.
Auteur(s)
    Mathis Hildonen, Andrea Ciolfi, Marco Ferilli, Camilla Cappelletti, Chadi Al Alam, David J. Amor, Tahsin Stefan Barakat, Valerie Benoit, Ohad Shmuel Birk, Bert Callewaert, Ana Cazurro-Gutierrez, Matthias De Wachter, Martine Doco-Fenzy, Paulino Gomez-Puertas, Trine Bjorg Hammer, Rami Abou Jamra, Rauan Kaiyrzhanov, Shinichi Kameyama, Boris Keren, Christina Kresge, Ilona Krey, Damien Lederer, Inigo Marcos-Alcalde, Reza Maroofian, Naomichi Matsumoto, Takeshi Mizuguchi, Lip-Hen Moey, Angela Morgan, Francina Munell, Konrad Platzer, Beth A. Pletcher, David Ros-Pardo, Lynne Rumping, Katalin Szakszon, Kristof Van Schil, Edgard Verdura, Julie Vogt, Evangeline Wassmer, Mina Zamani, Zeynep Tumer, Marco Tartaglia

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes

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Human genetics - ISSN 0340-6717-143 (2024) p. 761-773
Auteur(s)
    Niels Vos, Sadegheh Haghshenas, Liselot van der Laan, Perle K.M. Russel, Kathleen Rooney, Michael A. Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Saskia M. Maas, Lisenka E.L.M. Vissers, Bert B.A. de Vries, Rolph Pfundt, Mariet W. Elting, Johanna M. van Hagen, Nienke E. Verbeek, Marjolijn C.J. Jongmans, Phillis Lakeman, Lynne Rumping, Danielle G.M. Bosch, Antonio Vitobello, Christel Thauvin-Robinet, Laurence Faivre, Sophie Nambot, Aurore Garde, Marjolaine Willems, David Genevieve, Gael Nicolas, Tiffany Busa, Annick Toutain, Marion Gerard, Varoona Bizaoui, Bertrand Isidor, Giuseppe Merla, Maria Accadia, Charles E. Schwartz, Katrin Ounap, Mariette J.V. Hoffer, Marjan M. Nezarati, Marie-Jose H. van den Boogaard, Matthew L. Tedder, Curtis Rogers, Alfredo Brusco, Giovanni B. Ferrero, Marta Spodenkiewicz, Richard Sidlow, Alessandro Mussa, Slavica Trajkova, Emma McCann, Mieke M. van Haelst