Hopman

Assistant Professor - medical

Recent publications

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder Qin Wang, Andrew K Sobering, Christian Tirrito, Sadegheh Haghshenas, Tina Duelund Hjortshøj, Konrad Platzer, Silke Redler, Michael E March, Leticia S Matsuoka, Hang Xi, Josiah Zoodsma, Yuanhua Chen, Mari Mori, Marco L Leung, Nathalie Couque, Alain Verloes, Antoine Pouzet, Noor Aa Giesbertz, Marleen Eh Simon, Ashley K Yearwood, Dominique L Assing, Tzung-Chien Hsieh, Jing-Mei Li, Michael A Levy, Jennifer Kerkhof, Haley McConkey, Jessica Rzasa, Carolyn Lauzon-Young, Raashda A Sulaiman, Firdous Abdulwahab, Hanan E Shamseldin, Naif Am Almontashiri, Manal Afqi, Vettaikorumakankav Vedanarayanan, Maria J Guillen Sacoto, Ingrid M Wentzensen, Nadirah S Damseh, Rivka Birnbaum, Babeth van Ommeren, Saskia Mj Hopman, Maha S Zaki, Gehad Elmakkawy, Erum Afzal, JiHye Kim, Stephanie Efthymiou, Henry Houlden, Ambreen Nusrat, Mathias Toft, Uzma Abdullah, Zafar Iqbal, Shannon Terek, Fowzan S Alkuraya, Elizabeth J Bhoj, Reza Maroofian, Bekim Sadikovic, Hakon Hakonarson, Yuanquan Song, Dong Li
The Journal of clinical investigation, 2026, vol. 136
Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance Setareh Moghadasi, Maria Zanti, Fonnet Bleeker, Marinus Blok, Merel E. Braspenning, Marta Cerna, Margriet J. Collee, Christoph Engel, Saskia Hopman, Petra Kleiblova, Wouter Koole, Arjen Mensenkamp, Eline Overwater, Edenir Inez Palmero, Lot Snijders Blok, Katrien Storm, Najada Stringa, Marijke R. Wevers, Maaike P.G. Vreeswijk, David Goldgar, Kyriaki Michailidou, Encarna B. Gómez García
Journal of Medical Genetics, 2025, vol. 63, p.157-163
Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant Nienke van Engelen, Ronald R de Krijger, Michelle M Kleisman, Lennart A Kester, Saskia M J Hopman, Mariette E G Kranendonk, Marijn A Vermeulen, Carli Tops, Seok-Young Kim, Hans Clevers, Kornelia Neveling, Roland P Kuiper, Marjolijn C J Jongmans
Pediatric Blood & Cancer, 2025, vol. 72
CUL3-related neurodevelopmental disorder 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, Saskia Hopman, Johanna C. Herkert, Ron Hochstenbach, 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
Human Genetics and Genomics Advances, 2025, vol. 6
ARID1B-related disorder in 87 adults P. J. van der Sluijs, M. Gösgens, A. J.M. Dingemans, P. Striano, A. Riva, C. Mignot, A. Faudet, G. Vasileiou, M. Walther, S. A. Schrier Vergano, M. Alders, F. S. Alkuraya, I. Alorainy, H. S. Alsaif, B. Anderlid, I. Bache, I. van Beek, M. Blanluet, B. W. van Bon, T. Brunet, H. Brunner, M. L. Carriero, P. Charles, N. Chatron, E. Coccia, C. Dubourg, R. K. Earl, E. E. Eichler, L. Faivre, N. Foulds, C. Graziano, A. M. Guerrot, M. O. Hashem, S. Heide, D. Heron, S. E. Hickey, S. M.J. Hopman, A. Kattentidt-Mouravieva, J. Kerkhof, J. S. Klein Wassink-Ruiter, E. C. Kurtz-Nelson, K. Kušíková, M. Kvarnung, F. Lecoquierre, G. S. Leszinski, L. Loberti, P. L. Magoulas, F. Mari, I. Maystadt, G. Merla, J. M. Milunsky, S. Moortgat, G. Nicolas, M. O.’. Leary, S. Odent, J. R. Ozmore, K. Parbhoo, R. Pfundt, M. Piccione, A. M. Pinto, B. Popp, A. Putoux, H. L. Rehm, A. Reis, A. Renieri, J. A. Rosenfeld, M. Rossi, E. Salzano, P. Saugier-Veber, M. Seri, G. Severi, F. M. Sonmez, G. Strobl-Wildemann, K. E. Stuurman, E. Uctepe, H. Van Esch, G. Vitetta, B. B.A. de Vries, D. Wahl, T. Wang, P. Zacher, K. R. Heitink, F. G. Ropers, D. Steenbeek, T. Rybak, G. W.E. Santen
Genetics in Medicine Open, 2024, vol. 2
Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer Jette J. Bakhuizen, Freerk van Dijk, Marco J. Koudijs, Reno S. Bladergroen, Sebastian B.B. Bon, Saskia M.J. Hopman, Lennart A. Kester, Mariëtte E.G. Kranendonk, Jan L.C. Loeffen, Stephanie E. Smetsers, Edwin Sonneveld, Melissa Tachdjian, Evelien de Vos-Kerkhof, Catherine Goudie, Johannes H.M. Merks, Roland P. Kuiper, Marjolijn C.J. Jongmans
The Lancet Child and Adolescent Health, 2024, vol. 8, p.751-761