Molecular analysis of cancer genomes in children with Lynch syndrome
Dilys D. Weijers, Steffen Hirsch, Jette J. Bakhuizen, Nienke van Engelen, Lennart A. Kester, Mariëtte E.G. Kranendonk, Laura S. Hiemcke-Jiwa, Evelien de Vos-Kerkhof, Jan L.C. Loeffen, Robert J. Autry, Kristian W. Pajtler, Natalie Jäger, Marjolijn C.J. Jongmans, Roland P. Kuiper
International Journal of Cancer, 2024, vol. 154, p.1455-1463
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes
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, Gaël Nicolas, Tiffany Busa, Annick Toutain, Marion Gérard, Varoona Bizaoui, Bertrand Isidor, Giuseppe Merla, Maria Accadia, Charles E Schwartz, Katrin Ounap, Mariëtte J V Hoffer, Marjan M Nezarati, Marie-José H van den Boogaard, Matthew L Tedder, Curtis Rogers, Alfredo Brusco, Giovanni B Ferrero, Marta Spodenkiewicz, Richard Sidlow, Alessandro Mussa, Slavica Trajkova, Emma McCann, Henry J Mroczkowski, Sandra Jansen, Laura Donker-Kaat, Floor A M Duijkers, Kyra E Stuurman, Marcel M A M Mannens, Mariëlle Alders, Peter Henneman, Susan M White, Bekim Sadikovic, Mieke M van Haelst
Human Genetics, 2024, vol. 143, p.761-773
Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults
Anirban Das, Suzanne P. MacFarland, Julia Meade, Jordan R. Hansford, Kami W. Schneider, Roland P. Kuiper, Marjolijn C.J. Jongmans, Harry Lesmana, Kris Ann P. Schultz, Kim E. Nichols, Carol Durno, Kristin Zelley, Christopher C. Porter, Lisa J. States, Shay Ben-Shachar, Sharon A. Savage, Jennifer M. Kalish, Michael F. Walsh, Hamish S. Scott, Sharon E. Plon, Uri Tabori
Clinical Cancer Research, 2024, vol. 30, p.3378-3387
No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation
Jette J. Bakhuizen, Floor A.M. Postema, Rick R. van Rijn, Joost van Schuppen, Floor A.M. Duijkers, Carel J.M. van Noesel, Raoul C. Hennekam, Marjolijn C.J. Jongmans, C. Dilara Savci-Heijink, Stephanie E. Smetsers, Suzanne W.J. Terheggen-Lagro, Saskia M.J. Hopman, Matthijs W.N. Oomen, Johannes H.M. Merks
Journal of Pediatric Surgery, 2024, vol. 59, p.459-463
