CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

Autor: Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Peter Lauffer, Yasemin Alanay, Pratibha Bhai, Alfredo Brusco, Sonja de Munnik, Bert B.A. de Vries, Angelica Delgado Vega, Marc Engelen, Johanna C. Herkert, Ron Hochstenbach, Saskia Hopman, Sarina G. Kant, Ryutaro Kira, Mitsuhiro Kato, Boris Keren, Hester Y. Kroes, Michael A. Levy, Ngu Lock-Hock, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Naomichi Matsumoto, Takeshi Mizuguchi, Alessandro Mussa, Cyril Mignot, Anu Närhi, Ann Nordgren, Rolph Pfundt, Abeltje M. Polstra, Slavica Trajkova, Yolande van Bever, Marie José van den Boogaard, Jasper J. van der Smagt, Tahsin Stefan Barakat, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman

Publikováno v: HGG Advances, Vol 6, Iss 1, Pp 100380- (2025)

Summary: Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, seizures, autistic features, and/or behavior abnormalities. It is caused by C

Externí odkaz: https://doaj.org/article/4d2c1e6771da43cd9a0c73ae48b1b4d3

Supplementary Appendix 1 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Autor: Marjolijn C. Jongmans, Nicoline Hoogerbrugge, Roland P. Kuiper, Arjen R. Mensenkamp, Anja Wagner, Jan Loeffen, Eveline S. de Bont, Thatjana Gardeitchik, Anneke Vulto- van Silfhout, Denisa Ilencikova, Wojciech Mlynarski, Agata Pastorczak, Antonis Kattamis, Elizabeth Thompson, Lesley McGregor, Dylan Mordaunt, Martine J. van Belzen, Gijs W. Santen, Carlo Marcelis, David A. Koolen, Erica H. Gerkes, Maran J. Olderode-Berends, Saskia Hopman, Peter M. Hoogerbrugge, Eveline J. Kamping, Diede A.G. van Bladel, Marjolijn J. Ligtenberg, Esmé Waanders, Illja J. Diets

Supplementary Table S1 - Cancer gene panel Supplementary Table S2 - Patients with multiple malignancies Supplementary Table S3 - Tumor types of index patients Supplementary Table S4 - Candidate genes Supplementary Table S5 - Overview of clinical feat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ac3f8fcb3463be3cf3b34de6fde78d0
https://doi.org/10.1158/1078-0432.22465568.v1

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Autor: Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips, Michael A. Hadders, Emanuele Agolini, Priyanka Ahimaz, Kwame Anyane-Yeboa, Severine Audebert Bellanger, Ellen van Binsbergen, Marie-Jose van den Boogaard, Elise Brischoux-Boucher, Raymond C. Caylor, Andrea Ciolfi, Ton A.J. van Essen, Paolo Fontana, Saskia Hopman, Maria Iascone, Margaret M. Javier, Erik-Jan Kamsteeg, Jennifer Kerkhof, Jun Kido, Hyung-Goo Kim, Tjitske Kleefstra, Fortunato Lonardo, Abbe Lai, Dorit Lev, Michael A. Levy, M.E. Suzanne Lewis, Angie Lichty, Marcel M.A.M. Mannens, Naomichi Matsumoto, Idit Maya, Haley McConkey, Andre Megarbane, Vincent Michaud, Evelina Miele, Marcello Niceta, Antonio Novelli, Roberta Onesimo, Rolph Pfundt, Bernt Popp, Eloise Prijoles, Raissa Relator, Sylvia Redon, Dmitrijs Rots, Karen Rouault, Ken Saida, Jolanda Schieving, Marco Tartaglia, Romano Tenconi, Kevin Uguen, Nienke Verbeek, Christopher A. Walsh, Keren Yosovich, Christopher J. Yuskaitis, Giuseppe Zampino, Bekim Sadikovic, Mariëlle Alders, Renske Oegema

Publikováno v: Genetics in Medicine, 25, 1, pp. 49-62
van Jaarsveld, R H, Reilly, J, Cornips, M-C, Hadders, M A, Agolini, E, Ahimaz, P, Anyane-Yeboa, K, Bellanger, S A, van Binsbergen, E, van den Boogaard, M-J, Brischoux-Boucher, E, Caylor, R C, Ciolfi, A, van Essen, T A J, Fontana, P, Hopman, S, Iascone, M, Javier, M M, Kamsteeg, E-J, Kerkhof, J, Kido, J, Kim, H-G, Kleefstra, T, Lonardo, F, Lai, A, Lev, D, Levy, M A, Lewis, M E S, Lichty, A, Mannens, M M A M, Matsumoto, N, Maya, I, McConkey, H, Megarbane, A, Michaud, V, Miele, E, Niceta, M, Novelli, A, Onesimo, R, Pfundt, R, Popp, B, Prijoles, E, Relator, R, Redon, S, Rots, D, Rouault, K, Saida, K, Schieving, J, Tartaglia, M, Tenconi, R, Uguen, K, Verbeek, N, Walsh, C A, Yosovich, K, Yuskaitis, C J, Zampino, G, Sadikovic, B, Alders, M & Oegema, R 2023, ' Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature ', Genetics in Medicine, vol. 25, no. 1, pp. 49-62 . https://doi.org/10.1016/j.gim.2022.09.006
Genetics in medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 49-62
Genetics in Medicine, 25(1), 49-62. Nature Publishing Group

Contains fulltext : 290808.pdf (Publisher’s version ) (Open Access) PURPOSE: Pathogenic variants in genes involved in the epigenetic machinery are an emerging cause of neurodevelopment disorders (NDDs). Lysine-demethylase 2B (KDM2B) encodes an epig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e9527bbc3853240983032791841559
https://repository.ubn.ru.nl/handle/2066/290808

RARE-21. CANCER SPECTRUM IN GERMLINE SUFU MUTATION CARRIERS: A COLLABORATIVE PROJECT OF THE SIOPE HOST GENOME WORKING GROUP

Autor: Hélène Zattara, Stefan M. Pfister, Pascale Varlet, Laurence Brugières, Jacques Grill, Christian P. Kratz, Stéphanie Puget, Christelle Dufour, Franck Bourdeaut, David R. Jones, Marie Agnès Rame Collonge, Paul A. Northcott, Nicola Dikow, Léa Guerrini-Rousseau, Lucie Lafay-Cousin, Nicolas Sevenet, Till Milde, Andrey Korshunov, Miriam J. Smith, Eric Sariban, Giles W. Robinson, Dominik Sturm, Julien Masliah, Majoline Jongmans, Kristian W. Pajtler, Amar Gajjar, Sebastian M. Waszak, Olivier Delattre, Saskia Hopman, Gareth Evans, Steffen Hirsch

Publikováno v: Neuro-Oncology

BACKGROUND Little is known about cancer risk associated with pathogenic germline SUFU variants. METHODS Data of all previously published and 25 still unpublished patients with a pathogenic germline SUFU mutation were compiled. RESULTS 124 patients in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16e87175815574c5d45a1c5798aacccf
https://doi.org/10.1093/neuonc/noaa222.732

Het Bloom-syndroom in Nederland

Autor: Anja Wagner, Emilia Bijlsma, Danny Zwijnenburg, Alida Knegt, Hendrik Boot, Johannes H. M. Merks, M.H.D. Schoenaker, Saskia Hopman, V. Langenhorst, Corry M.R. Weemaes, Johanna Verheij, Irma Kluijt, E. Michiels, Kyra Stuurman

Publikováno v: Tijdschrift voor Kindergeneeskunde. 81:148-158

Aim. To describe the clinical and molecular genetic characteristics of Bloom syndrome (BS) patients in the Netherlands, in comparison with the international Bloom syndrome cohort as described in the Bloom's Syndrome Registry (BSR). Patients. For this

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fed672cc11f2563d37e5222f1727bdcc
https://doi.org/10.1007/s12456-013-0178-8