Search Results - "van Tuil, Marc"

Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS by van Belzen, Ianthe A E M, Cai, Casey, van Tuil, Marc, Badloe, Shashi, Strengman, Eric, Janse, Alex, Verwiel, Eugène T P, van der Leest, Douwe F M, Kester, Lennart, Molenaar, Jan J, Meijerink, Jules, Drost, Jarno, Peng, Weng Chuan, Kerstens, Hindrik H D, Tops, Bastiaan B J, Holstege, Frank C P, Kemmeren, Patrick, Hehir-Kwa, Jayne Y

“…Gene fusions are important cancer drivers in pediatric cancer and their accurate detection is essential for diagnosis and treatment. Clinical decision-making…”
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Mutations in GRIP1 cause Fraser syndrome by Vogel, Maartje J, van Zon, Patrick, Brueton, Louise, Gijzen, Marleen, van Tuil, Marc C, Cox, Phillip, Schanze, Denny, Kariminejad, Ariana, Ghaderi-Sohi, Siavash, Blair, Edward, Zenker, Martin, Scambler, Peter J, Ploos van Amstel, Hans Kristian, van Haelst, Mieke M

“…Fraser syndrome (FS) is a autosomal recessive malformation syndrome characterised by cryptophthalmos, syndactyly and urogenital defects. FS is a genetically…”
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X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face by Harakalova, Magdalena, van den Boogaard, Marie-Jose, Sinke, Richard, van Lieshout, Stef, van Tuil, Marc C, Duran, Karen, Renkens, Ivo, Terhal, Paulien A, de Kovel, Carolien, Nijman, Ies J, van Haelst, Mieke, Knoers, Nine V A M, van Haaften, Gijs, Kloosterman, Wigard, Hennekam, Raoul C M, Cuppen, Edwin, Ploos van Amstel, Hans Kristian

“…We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability, hypogonadism, gynaecomastia, truncal…”
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Molecular Characterization Reveals Subclasses of 1q Gain in Intermediate Risk Wilms Tumors by van Belzen, Ianthe A E M, van Tuil, Marc, Badloe, Shashi, Strengman, Eric, Janse, Alex, Verwiel, Eugène T P, van der Leest, Douwe F M, de Vos, Sam, Baker-Hernandez, John, Groenendijk, Alissa, de Krijger, Ronald, Kerstens, Hindrik H D, Drost, Jarno, van den Heuvel-Eibrink, Marry M, Tops, Bastiaan B J, Holstege, Frank C P, Kemmeren, Patrick, Hehir-Kwa, Jayne Y

“…Chromosomal alterations have recurrently been identified in Wilms tumors (WTs) and some are associated with poor prognosis. Gain of 1q (1q+) is of special…”
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Carbon Nanoparticles as Detection Labels in Antibody Microarrays. Detection of Genes Encoding Virulence Factors in Shiga Toxin-Producing Escherichia coli by Noguera, Patricia S, Posthuma-Trumpie, Geertruida A, van Tuil, Marc, van der Wal, Fimme J, Boer, Albert de, Moers, Antoine P. H. A, van Amerongen, Aart

“…The present study demonstrates that carbon nanoparticles (CNPs) can be used as labels in microarrays. CNPs were used in nucleic acid microarray immunoassays…”
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From Generic RNA-Based MRD Assessment Towards Patient-Specific Genomic (DNA-based) MRD in AML and Other Non-B Cell Acute Leukemia by Sonneveld, Edwin, Kester, Lennart, Westera, Liset, Blom, Janneke, Koudijs, Marco J., Strengman, Eric, van Tuil, Marc, Luesink, Maaike, Goemans, Bianca F., Tops, Bastiaan

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RNA-Sequencing Improves Diagnostics and Treatment of Pediatric Hematological Malignancies by Koudijs, Marco J., Kester, Lennart A., Hehir-Kwa, Jayne Y., Verwiel, Eugene T.P., Strengman, Erik, van Tuil, Marc, van der Leest, Douwe, Sonneveld, Edwin, Kemmeren, Patrick, Haas, Valerie De, Vormoor, Josef, Tops, Bas B.J.

“…Abstract Background Diagnosis and treatment of hematological malignancies relies increasingly on the detection of underlying genetic abnormalities. Various…”
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Mesenchymal tumor organoid models recapitulate rhabdomyosarcoma subtypes by Meister, Michael T, Groot Koerkamp, Marian J A, de Souza, Terezinha, Breunis, Willemijn B, Frazer‐Mendelewska, Ewa, Brok, Mariël, DeMartino, Jeff, Manders, Freek, Calandrini, Camilla, Kerstens, Hinri H D, Janse, Alex, Dolman, M Emmy M, Eising, Selma, Langenberg, Karin P S, van Tuil, Marc, Knops, Rutger R G, van Scheltinga, Sheila Terwisscha, Hiemcke‐Jiwa, Laura S, Flucke, Uta, Merks, Johannes H M, van Noesel, Max M, Tops, Bastiaan B J, Hehir‐Kwa, Jayne Y, Kemmeren, Patrick, Molenaar, Jan J, van de Wetering, Marc, van Boxtel, Ruben, Drost, Jarno, Holstege, Frank C P

“…Rhabdomyosarcomas (RMS) are mesenchyme‐derived tumors and the most common childhood soft tissue sarcomas. Treatment is intense, with a nevertheless poor…”
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Abstract B077: M&M: An RNA-seq based pan-cancer classifier for pediatric tumors by Wallis, Fleur S.A., Baker-Hernandez, John L., van Tuil, Marc, van Hamersveld, Claudia, Koudijs, Marco J., Verwiel, Eugène T.P., Janse, Alex, Hiemcke-Jiwa, Laura S., de Krijger, Ronald R., Kranendonk, Mariëtte E.G., Vermeulen, Marijn A., Wesseling, Pieter, Flucke, Uta E., de Haas, Valérie, Luesink, Maaike, Hehir-Kwa, Jayne Y., Tops, Bastiaan B.J., Kemmeren, Patrick, Kester, Lennart A.

“…Abstract With many documented tumor entities, acquiring the correct diagnosis is a challenging but crucial process in pediatric oncology. Notably, rare tumors…”
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Improved Gene Fusion Detection in Childhood Cancer Diagnostics Using RNA Sequencing by Hehir-Kwa, Jayne Y, Koudijs, Marco J, Verwiel, Eugene T P, Kester, Lennart A, van Tuil, Marc, Strengman, Eric, Buijs, Arjan, Kranendonk, Mariëtte E G, Hiemcke-Jiwa, Laura S, de Haas, Valerie, van de Geer, Ellen, de Leng, Wendy, van der Lugt, Jasper, Lijnzaad, Philip, Holstege, Frank C P, Kemmeren, Patrick, Tops, Bastiaan B J

“…Gene fusions play a significant role in cancer etiology, making their detection crucial for accurate diagnosis, prognosis, and determining therapeutic targets…”
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Complex structural variation is prevalent and highly pathogenic in pediatric solid tumors by van Belzen, Ianthe A.E.M., van Tuil, Marc, Badloe, Shashi, Janse, Alex, Verwiel, Eugène T.P., Santoso, Marcel, de Vos, Sam, Baker-Hernandez, John, Kerstens, Hindrik H.D., Solleveld-Westerink, Nienke, Meister, Michael T., Drost, Jarno, van den Heuvel-Eibrink, Marry M., Merks, Johannes H.M., Molenaar, Jan J., Peng, Weng Chuan, Tops, Bastiaan B.J., Holstege, Frank C.P., Kemmeren, Patrick, Hehir-Kwa, Jayne Y.

“…In pediatric cancer, structural variants (SVs) and copy-number alterations contribute to cancer initiation as well as progression, thereby aiding diagnosis and…”
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Acceptance of Genetic Counseling and Testing in a Hospital-Based Series of Patients with Gynecological Cancer by Dekker, Nicky, van Dorst, Eleonora B. L., van der Luijt, Rob B., van Gijn, Marielle E., van Tuil, Marc, Offerhaus, Johan A., Ausems, Margreet G. E. M.

“…Referral of patients with endometrial (EC) and/or ovarian cancer (OC) for genetic counseling is based on age at diagnosis and family history. Many patients…”
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