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dr. S.M.J. Hopman

dr. S.M.J. Hopman

Assistant Professor - medical
  • Genetics - Oper.Mang. Clinical Genetics

Research Programs

Child Health

Research Output (25)

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Rots Dmitrijs, Jakub Taryn E, Keung Crystal, Jackson Adam, Banka Siddharth, Pfundt Rolph, de Vries Bert B A, van Jaarsveld Richard H, Hopman Saskia M J, van Binsbergen Ellen, Valenzuela Irene, Hempel Maja, Bierhals Tatjana, Kortüm Fanny, Lecoquierre Francois, Goldenberg Alice, Hertz Jens Michael, Andersen Charlotte Brasch, Kibæk Maria, Prijoles Eloise J, Stevenson Roger E, Everman David B, Patterson Wesley G, Meng Linyan, Gijavanekar Charul, De Dios Karl, Lakhani Shenela, Levy Tess, Wagner Matias, Wieczorek Dagmar, Benke Paul J, Lopez Garcia María Soledad, Perrier Renee, Sousa Sergio B, Almeida Pedro M, Simões Maria José, Isidor Bertrand, Deb Wallid, Schmanski Andrew A, Abdul-Rahman Omar, Philippe Christophe, Bruel Ange-Line, Faivre Laurence, Vitobello Antonio, Thauvin Christel, Smits Jeroen J, Garavelli Livia, Caraffi Stefano G, Peluso Francesca, Bosch Daniëlle G M, 1 Jun 2023, In: American Journal of Human Genetics. 110 , p. 963-978 16 p.

Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm

Bakhuizen Jette J., Hopman Saskia M.J., Bosscha Machteld I., Dommering Charlotte J., van den Heuvel-Eibrink Marry M., Hol Janna A., Kester Lennart A., Koudijs Marco J., Langenberg Karin P.S., Loeffen Jan L.C., van der Lugt Jasper, Moll Annette C., van Noesel Max M., Smetsers Stephanie E., de Vos-Kerkhof Evelien, Merks Johannes H.M., Kuiper Roland P., Jongmans Marjolijn C.J. 3 Feb 2023, In: JAMA network open. 6 , p. 1-8 8 p.

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

van Jaarsveld Richard H, Reilly Jack, Cornips Marie-Claire, Hadders Michael A, Agolini Emanuele, Ahimaz Priyanka, Anyane-Yeboa Kwame, Bellanger Severine Audebert, van Binsbergen Ellen, van den Boogaard Marie-Jose, Brischoux-Boucher Elise, Caylor Raymond C, Ciolfi Andrea, van Essen Ton A J, Fontana Paolo, Hopman Saskia, Iascone Maria, Javier Margaret M, Kamsteeg Erik-Jan, Kerkhof Jennifer, Kido Jun, Kim Hyung-Goo, Kleefstra Tjitske, Lonardo Fortunato, Lai Abbe, Lev Dorit, Levy Michael A, Lewis M E Suzanne, Lichty Angie, Mannens Marcel M A M, Matsumoto Naomichi, Maya Idit, McConkey Haley, Megarbane Andre, Michaud Vincent, Miele Evelina, Niceta Marcello, Novelli Antonio, Onesimo Roberta, Pfundt Rolph, Popp Bernt, Prijoles Eloise, Relator Raissa, Redon Sylvia, Rots Dmitrijs, Rouault Karen, Saida Ken, Schieving Jolanda, Tartaglia Marco, Tenconi Romano, Uguen Kevin, Verbeek Nienke, Walsh Christopher A, Yosovich Keren, Yuskaitis Christopher J, Zampino Giuseppe, Sadikovic Bekim, Alders Mariëlle, Oegema Renske 1 Nov 2022, In: Genetics in medicine : official journal of the American College of Medical Genetics. 25 , p. 49-62 14 p.

Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort:A Comprehensive Clinical and Genomic Characterization

Hol Janna A., Kuiper Roland P., Van Dijk Freerk, Waanders Esmé, Van Peer Sophie E., Koudijs Marco J., Bladergroen Reno, Van Reijmersdal Simon V., Morgado Lionel M., Bliek Jet, Lombardi Maria Paola, Hopman Saskia, Drost Jarno, De Krijger Ronald R., Van Den Heuvel-Eibrink Marry M., Jongmans Marjolijn C.J. 10 Jun 2022, In: Journal of Clinical Oncology. 40 , p. 1892-1902 11 p.

Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS):a prospective, observational, multi-center study

Postema Floor A M, Hopman Saskia M J, de Borgie Corianne A J M, Aalfs Cora M, Anninga Jakob K, Berger Lieke P V, Bleeker Fonnet E, Dommering Charlotte J, van Eijkelenburg Natasha K A, Hammond Peter, van den Heuvel-Eibrink Marry M, Hol Janna A, Kors Wijnanda A, Letteboer Tom G W, Loeffen Jan L C M, Meijer Lisethe, Olderode-Berends Maran J W, Wagner Anja, Hennekam Raoul C, Merks Johannes H M 2021, In: Familial Cancer. 20 , p. 263-271 9 p.

Multiple tumors due to mosaic genome-wide paternal uniparental disomy

Postema Floor A.M., Bliek Jet, van Noesel Carel J.M., van Zutven Laura J.C.M., Oosterwijk Jan C., Hopman Saskia M.J., Merks Johannes H.M., Hennekam Raoul C. 1 Jun 2019, In: Pediatric Blood and Cancer. 66 7 p.

Development, behaviour and autism in individuals with SMC1A variants

Mulder Paul A., Huisman Sylvia, Landlust Annemiek M., Moss Jo, Piening Sigrid, Hennekam Raoul C., van Balkom Ingrid D.C., Bader Ingrid, Bisgaard Anne Marie, Brooks Alice, Cereda Anna, Cinca Constanza, Clark Dinah, Cormier-Daire Valerie, Deardorff Matthew A., Diderich Karin, Elting Mariet, van Essen Anthonie, Fitzpatrick David, Gervasini Cristina, Gillessen-Kaesbach Gabriele, Girisha Katta M., Hilhorst-Hofstee Yvonne, Hopman Saskia, Horn Denise, Isrie Mala, Jansen Sandra, Jespersgaard Cathrine, Kaiser Frank J., Kaur Maninder, Kleefstra Tjitske, Krantz Ian D., Lakeman Phillis, Lessel Davor, Michot Caroline, Noon Sarah E., Oliver Chris, Parenti Ilaria, Pie-Juste Juan, Puisac Beatriz, Ramos Feliciano J., Redeker Egbert, Rieubland Claudine, Russo Silvia, Selicorni Angelo, Tümer Zeynep, Vorstenbosch Rieneke, de Vries Irene M., Wenger Tara L., Wierzba Jolanta, 1 Mar 2019, In: Journal of Child Psychology and Psychiatry and Allied Disciplines. 60 , p. 305-313 9 p.

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

Diets Illja J., Waanders Esme, Ligtenberg Marjolijn J., van Bladel Diede A.G., Kamping Eveline J., Hoogerbrugge Peter M., Hopman Saskia, Olderode-Berends Maran J., Gerkes Erica H., Koolen David A., Marcelis Carlo, Santen Gijs W., van Belzen Martine J., Mordaunt Dylan, McGregor Lesley, Thompson Elizabeth, Kattamis Antonis, Pastorczak Agata, Mlynarski Wojciech, Ilencikova Denisa, Vulto-Van Silfhout Anneke, Gardeitchik Thatjana, de Bont Eveline S., Loeffen Jan, Wagner Anja, Mensenkamp Arjen R., Kuiper Roland P., Hoogerbrugge Nicoline, Jongmans Marjolijn C. 1 Apr 2018, In: Clinical Cancer Research. 24 , p. 1594-1603 10 p.

Consequences of diagnosing a tumor predisposition syndrome in children with cancer:A literature review

Postema Floor A M, Hopman Saskia M.J., Hennekam Raoul C M, Merks Johannes H.M. 1 Jan 2018, In: Pediatric Blood & Cancer. 65

Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS):Protocol for a prospective, observational, multicentre study

Postema Floor A M, Hopman Saskia M J, De Borgie Corianne A J M, Hammond Peter, Hennekam Raoul C., Merks Johannes H M, Aalfs Cora M., Anninga Jakob K., Berger Lieke P V, Bleeker Fonnet E., De Bont Eveline S J M, Dommering Charlotte J., Van Eijkelenburg Natasha K A, Van Den Heuvel-Eibrink Marry M., Jongmans Marjolijn C J, Kors Wijnanda A., Letteboer Tom G W, Loeffen Jan L C M, Olderode-Berends Maran J W, Wagner Anja 1 Jan 2017, In: BMJ open [E]. 7

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