Author: "van Roosmalen, Markus J." / Database: OAIster - Searchworks@Jio Institute Digital Library Search Results

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61 results on '"van Roosmalen, Markus J."'

1. Transient Differentiation-State Plasticity Occurs during Acute Lymphoblastic Leukemia Initiation

Author: Cardiopulmonale Chirurgie pat. zorg, Poort, Vera M., Hagelaar, Rico, van Roosmalen, Markus J., Trabut, Laurianne, Buijs-Gladdines, Jessica G.C.A.M., van Wijk, Bram, Meijerink, Jules, van Boxtel, Ruben, Cardiopulmonale Chirurgie pat. zorg, Poort, Vera M., Hagelaar, Rico, van Roosmalen, Markus J., Trabut, Laurianne, Buijs-Gladdines, Jessica G.C.A.M., van Wijk, Bram, Meijerink, Jules, and van Boxtel, Ruben
Published: 2024

2. Selective pressures of platinum compounds shape the evolution of therapy-related myeloid neoplasms

Author: Bertrums, Eline J.M., de Kanter, Jurrian K., Derks, Lucca L.M., Verheul, Mark, Trabut, Laurianne, van Roosmalen, Markus J., Hasle, Henrik, Antoniou, Evangelia, Reinhardt, Dirk, Dworzak, Michael N., Mühlegger, Nora, van den Heuvel-Eibrink, Marry M., Zwaan, C. Michel, Goemans, Bianca F., van Boxtel, Ruben, Bertrums, Eline J.M., de Kanter, Jurrian K., Derks, Lucca L.M., Verheul, Mark, Trabut, Laurianne, van Roosmalen, Markus J., Hasle, Henrik, Antoniou, Evangelia, Reinhardt, Dirk, Dworzak, Michael N., Mühlegger, Nora, van den Heuvel-Eibrink, Marry M., Zwaan, C. Michel, Goemans, Bianca F., and van Boxtel, Ruben
Abstract: Therapy-related myeloid neoplasms (t-MN) arise as a complication of chemo- and/or radiotherapy. Although t-MN can occur both in adult and childhood cancer survivors, the mechanisms driving therapy-related leukemogenesis likely vary across different ages. Chemotherapy is thought to induce driver mutations in children, whereas in adults pre-existing mutant clones are selected by the exposure. However, selective pressures induced by chemotherapy early in life are less well studied. Here, we use single-cell whole genome sequencing and phylogenetic inference to show that the founding cell of t-MN in children starts expanding after cessation of platinum exposure. In patients with Li-Fraumeni syndrome, characterized by a germline TP53 mutation, we find that the t-MN already expands during treatment, suggesting that platinum-induced growth inhibition is TP53-dependent. Our results demonstrate that germline aberrations can interact with treatment exposures in inducing t-MN, which is important for the development of more targeted, patient-specific treatment regimens and follow-up.
Published: 2024

3. Mitochondrial H2O2 release does not directly cause damage to chromosomal DNA.

Author: CMM Groep Dansen, Cancer, CMM Groep Kloosterman, CMM Groep De Keizer, CMM Groep Burgering, CMM Groep Cuppen, CMM Sectie Molecular Cancer Research, van Soest, Daan M K, Polderman, Paulien E, den Toom, Wytze T F, Keijer, Janneke P, van Roosmalen, Markus J, Leyten, Tim M F, Lehmann, Johannes, Zwakenberg, Susan, De Henau, Sasha, van Boxtel, Ruben, Burgering, Boudewijn M T, Dansen, Tobias B, CMM Groep Dansen, Cancer, CMM Groep Kloosterman, CMM Groep De Keizer, CMM Groep Burgering, CMM Groep Cuppen, CMM Sectie Molecular Cancer Research, van Soest, Daan M K, Polderman, Paulien E, den Toom, Wytze T F, Keijer, Janneke P, van Roosmalen, Markus J, Leyten, Tim M F, Lehmann, Johannes, Zwakenberg, Susan, De Henau, Sasha, van Boxtel, Ruben, Burgering, Boudewijn M T, and Dansen, Tobias B
Published: 2024

4. Comprehensive single-cell genome analysis at nucleotide resolution using the PTA Analysis Toolbox

Author: Middelkamp, Sjors, Manders, Freek, Peci, Flavia, van Roosmalen, Markus J., González, Diego Montiel, Bertrums, Eline J.M., van der Werf, Inge, Derks, Lucca L.M., Groenen, Niels M., Verheul, Mark, Trabut, Laurianne, Pleguezuelos-Manzano, Cayetano, Brandsma, Arianne M., Antoniou, Evangelia, Reinhardt, Dirk, Bierings, Marc, Belderbos, Mirjam E., van Boxtel, Ruben, Middelkamp, Sjors, Manders, Freek, Peci, Flavia, van Roosmalen, Markus J., González, Diego Montiel, Bertrums, Eline J.M., van der Werf, Inge, Derks, Lucca L.M., Groenen, Niels M., Verheul, Mark, Trabut, Laurianne, Pleguezuelos-Manzano, Cayetano, Brandsma, Arianne M., Antoniou, Evangelia, Reinhardt, Dirk, Bierings, Marc, Belderbos, Mirjam E., and van Boxtel, Ruben
Abstract: Detection of somatic mutations in single cells has been severely hampered by technical limitations of whole-genome amplification. Novel technologies including primary template-directed amplification (PTA) significantly improved the accuracy of single-cell whole-genome sequencing (WGS) but still generate hundreds of artifacts per amplification reaction. We developed a comprehensive bioinformatic workflow, called the PTA Analysis Toolbox (PTATO), to accurately detect single base substitutions, insertions-deletions (indels), and structural variants in PTA-based WGS data. PTATO includes a machine learning approach and filtering based on recurrence to distinguish PTA artifacts from true mutations with high sensitivity (up to 90%), outperforming existing bioinformatic approaches. Using PTATO, we demonstrate that hematopoietic stem cells of patients with Fanconi anemia, which cannot be analyzed using regular WGS, have normal somatic single base substitution burdens but increased numbers of deletions. Our results show that PTATO enables studying somatic mutagenesis in the genomes of single cells with unprecedented sensitivity and accuracy.
Published: 2023

5. Comprehensive single-cell genome analysis at nucleotide resolution using the PTA Analysis Toolbox

Author: CMM Groep Snippert, CMM Groep Kloosterman, CTI Leusen, SCT patientenzorg, Child Health, Infection & Immunity, Regenerative Medicine and Stem Cells, Arts-assistenten Kinderen, CMM Groep Cuppen, Middelkamp, Sjors, Manders, Freek, Peci, Flavia, van Roosmalen, Markus J., González, Diego Montiel, Bertrums, Eline J.M., van der Werf, Inge, Derks, Lucca L.M., Groenen, Niels M., Verheul, Mark, Trabut, Laurianne, Pleguezuelos-Manzano, Cayetano, Brandsma, Arianne M., Antoniou, Evangelia, Reinhardt, Dirk, Bierings, Marc, Belderbos, Mirjam E., van Boxtel, Ruben, CMM Groep Snippert, CMM Groep Kloosterman, CTI Leusen, SCT patientenzorg, Child Health, Infection & Immunity, Regenerative Medicine and Stem Cells, Arts-assistenten Kinderen, CMM Groep Cuppen, Middelkamp, Sjors, Manders, Freek, Peci, Flavia, van Roosmalen, Markus J., González, Diego Montiel, Bertrums, Eline J.M., van der Werf, Inge, Derks, Lucca L.M., Groenen, Niels M., Verheul, Mark, Trabut, Laurianne, Pleguezuelos-Manzano, Cayetano, Brandsma, Arianne M., Antoniou, Evangelia, Reinhardt, Dirk, Bierings, Marc, Belderbos, Mirjam E., and van Boxtel, Ruben
Published: 2023

6. A multi-platform reference for somatic structural variation detection

Author: CMM Groep Cuppen, CMM Groep De Ridder, Cancer, CMM Groep Kloosterman, Child Health, Espejo Valle-Inclan, Jose, Besselink, Nicolle J M, de Bruijn, Ewart, Cameron, Daniel L, Ebler, Jana, Kutzera, Joachim, van Lieshout, Stef, Marschall, Tobias, Nelen, Marcel, Priestley, Peter, Renkens, Ivo, Roemer, Margaretha G M, van Roosmalen, Markus J, Wenger, Aaron M, Ylstra, Bauke, Fijneman, Remond J A, Kloosterman, Wigard P, Cuppen, Edwin, CMM Groep Cuppen, CMM Groep De Ridder, Cancer, CMM Groep Kloosterman, Child Health, Espejo Valle-Inclan, Jose, Besselink, Nicolle J M, de Bruijn, Ewart, Cameron, Daniel L, Ebler, Jana, Kutzera, Joachim, van Lieshout, Stef, Marschall, Tobias, Nelen, Marcel, Priestley, Peter, Renkens, Ivo, Roemer, Margaretha G M, van Roosmalen, Markus J, Wenger, Aaron M, Ylstra, Bauke, Fijneman, Remond J A, Kloosterman, Wigard P, and Cuppen, Edwin
Published: 2022

7. Elevated Mutational Age in Blood of Children Treated for Cancer Contributes to TherapyRelated Myeloid Neoplasms

Author: Bertrums, Eline J.M., Rosendahl Huber, Axel K.M., de Kanter, Jurrian K., Brandsma, Arianne M., van Leeuwen, Anaïs J.C.N., Verheul, Mark, van den Heuvel-Eibrink, Marry M., Oka, Rurika, van Roosmalen, Markus J., de Groot-Kruseman, Hester A., Michel Zwaan, C., Goemans, Bianca F., van Boxtel, Ruben, Bertrums, Eline J.M., Rosendahl Huber, Axel K.M., de Kanter, Jurrian K., Brandsma, Arianne M., van Leeuwen, Anaïs J.C.N., Verheul, Mark, van den Heuvel-Eibrink, Marry M., Oka, Rurika, van Roosmalen, Markus J., de Groot-Kruseman, Hester A., Michel Zwaan, C., Goemans, Bianca F., and van Boxtel, Ruben
Abstract: Childhood cancer survivors are confronted with various chronic health conditions like therapy-related malignancies. However, it is unclear how exposure to chemotherapy contributes to the mutation burden and clonal composition of healthy tissues early in life. Here, we studied mutation accumulation in hematopoietic stem and progenitor cells (HSPC) before and after cancer treatment of 24 children. Of these children, 19 developed therapy-related myeloid neoplasms (t-MN). Posttreatment HSPCs had an average mutation burden increase comparable to what treatment-naïve cells accumulate during 16 years of life, with excesses up to 80 years. In most children, these additional mutations were induced by clock-like processes, which are also active during healthy aging. Other patients harbored mutations that could be directly attributed to treatments like platinum-based drugs and thiopurines. Using phylogenetic inference, we demonstrate that most t-MN in children originate after the start of treatment and that leukemic clones become dominant during or directly after chemotherapy exposure. SIGNIFICANCE: Our study shows that chemotherapy increases the mutation burden of normal blood cells in cancer survivors. Only few drugs damage the DNA directly, whereas in most patients, chemotherapy-induced mutations are caused by processes similar to those present during normal aging.
Published: 2022

8. Article Human induced pluripotent stem cells display a similar mutation burden as embryonic pluripotent cells in vivo

Author: CMM Groep Cuppen, CMM Groep Kloosterman, Cancer, Hasaart, Karlijn A L, Manders, Freek, Ubels, Joske, Verheul, Mark, van Roosmalen, Markus J, Groenen, Niels M, Oka, Rurika, Kuijk, Ewart, Lopes, Susana M Chuva de Sousa, Boxtel, Ruben van, CMM Groep Cuppen, CMM Groep Kloosterman, Cancer, Hasaart, Karlijn A L, Manders, Freek, Ubels, Joske, Verheul, Mark, van Roosmalen, Markus J, Groenen, Niels M, Oka, Rurika, Kuijk, Ewart, Lopes, Susana M Chuva de Sousa, and Boxtel, Ruben van
Published: 2022

9. MutationalPatterns: the one stop shop for the analysis of mutational processes

Author: CTI Leusen, CMM Groep Kloosterman, Epi Infectieziekten Team 2, Infection & Immunity, CMM Groep Cuppen, Cancer, Manders, Freek, Brandsma, Arianne M, de Kanter, Jurrian, Verheul, Mark, Oka, Rurika, van Roosmalen, Markus J, van der Roest, Bastiaan, van Hoeck, Arne, Cuppen, Edwin, van Boxtel, Ruben, CTI Leusen, CMM Groep Kloosterman, Epi Infectieziekten Team 2, Infection & Immunity, CMM Groep Cuppen, Cancer, Manders, Freek, Brandsma, Arianne M, de Kanter, Jurrian, Verheul, Mark, Oka, Rurika, van Roosmalen, Markus J, van der Roest, Bastiaan, van Hoeck, Arne, Cuppen, Edwin, and van Boxtel, Ruben
Published: 2022

10. Reconstructing single-cell karyotype alterations in colorectal cancer identifies punctuated and gradual diversification patterns

Author: Bollen, Yannik, Stelloo, Ellen, van Leenen, Petra, van den Bos, Myrna, Ponsioen, Bas, Lu, Bingxin, van Roosmalen, Markus J, Bolhaqueiro, Ana C F, Kimberley, Christopher, Mossner, Maximilian, Cross, William C H, Besselink, Nicolle J M, van der Roest, Bastiaan, Boymans, Sander, Oost, Koen C, de Vries, Sippe G, Rehmann, Holger, Cuppen, Edwin, Lens, Susanne M A, Kops, Geert J P L, Kloosterman, Wigard P, Terstappen, Leon W M M, Barnes, Chris P, Sottoriva, Andrea, Graham, Trevor A, Snippert, Hugo J G, Bollen, Yannik, Stelloo, Ellen, van Leenen, Petra, van den Bos, Myrna, Ponsioen, Bas, Lu, Bingxin, van Roosmalen, Markus J, Bolhaqueiro, Ana C F, Kimberley, Christopher, Mossner, Maximilian, Cross, William C H, Besselink, Nicolle J M, van der Roest, Bastiaan, Boymans, Sander, Oost, Koen C, de Vries, Sippe G, Rehmann, Holger, Cuppen, Edwin, Lens, Susanne M A, Kops, Geert J P L, Kloosterman, Wigard P, Terstappen, Leon W M M, Barnes, Chris P, Sottoriva, Andrea, Graham, Trevor A, and Snippert, Hugo J G
Abstract: Central to tumor evolution is the generation of genetic diversity. However, the extent and patterns by which de novo karyotype alterations emerge and propagate within human tumors are not well understood, especially at single-cell resolution. Here, we present 3D Live-Seq-a protocol that integrates live-cell imaging of tumor organoid outgrowth and whole-genome sequencing of each imaged cell to reconstruct evolving tumor cell karyotypes across consecutive cell generations. Using patient-derived colorectal cancer organoids and fresh tumor biopsies, we demonstrate that karyotype alterations of varying complexity are prevalent and can arise within a few cell generations. Sub-chromosomal acentric fragments were prone to replication and collective missegregation across consecutive cell divisions. In contrast, gross genome-wide karyotype alterations were generated in a single erroneous cell division, providing support that aneuploid tumor genomes can evolve via punctuated evolution. Mapping the temporal dynamics and patterns of karyotype diversification in cancer enables reconstructions of evolutionary paths to malignant fitness.
Published: 2021

11. Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients

Author: Valle-Inclan, Jose Espejo, Stangl, Christina, de Jong, Anouk C., van Dessel, Lisanne F., van Roosmalen, Markus J., Helmijr, Jean C.A., Renkens, Ivo, Janssen, Roel, de Blank, Sam, de Witte, Chris J., Martens, John W.M., Jansen, Maurice P.H.M., Lolkema, Martijn P., Kloosterman, Wigard P., Valle-Inclan, Jose Espejo, Stangl, Christina, de Jong, Anouk C., van Dessel, Lisanne F., van Roosmalen, Markus J., Helmijr, Jean C.A., Renkens, Ivo, Janssen, Roel, de Blank, Sam, de Witte, Chris J., Martens, John W.M., Jansen, Maurice P.H.M., Lolkema, Martijn P., and Kloosterman, Wigard P.
Abstract: Here, we describe a novel approach for rapid discovery of a set of tumor-specific genomic structural variants (SVs), based on a combination of low coverage cancer genome sequencing using Oxford Nanopore with an SV calling and filtering pipeline. We applied the method to tumor samples of high-grade ovarian and prostate cancer patients and validated on average ten somatic SVs per patient with breakpoint-spanning PCR mini-amplicons. These SVs could be quantified in ctDNA samples of patients with metastatic prostate cancer using a digital PCR assay. The results suggest that SV dynamics correlate with and may improve existing treatment-response biomarkers such as PSA. https://github.com/UMCUGenetics/SHARC.
Published: 2021

12. Reconstructing single-cell karyotype alterations in colorectal cancer identifies punctuated and gradual diversification patterns

Author: Bollen, Yannik, Stelloo, Ellen, van Leenen, Petra, van den Bos, Myrna, Ponsioen, Bas, Lu, Bingxin, van Roosmalen, Markus J, Bolhaqueiro, Ana C F, Kimberley, Christopher, Mossner, Maximilian, Cross, William C H, Besselink, Nicolle J M, van der Roest, Bastiaan, Boymans, Sander, Oost, Koen C, de Vries, Sippe G, Rehmann, Holger, Cuppen, Edwin, Lens, Susanne M A, Kops, Geert J P L, Kloosterman, Wigard P, Terstappen, Leon W M M, Barnes, Chris P, Sottoriva, Andrea, Graham, Trevor A, Snippert, Hugo J G, Bollen, Yannik, Stelloo, Ellen, van Leenen, Petra, van den Bos, Myrna, Ponsioen, Bas, Lu, Bingxin, van Roosmalen, Markus J, Bolhaqueiro, Ana C F, Kimberley, Christopher, Mossner, Maximilian, Cross, William C H, Besselink, Nicolle J M, van der Roest, Bastiaan, Boymans, Sander, Oost, Koen C, de Vries, Sippe G, Rehmann, Holger, Cuppen, Edwin, Lens, Susanne M A, Kops, Geert J P L, Kloosterman, Wigard P, Terstappen, Leon W M M, Barnes, Chris P, Sottoriva, Andrea, Graham, Trevor A, and Snippert, Hugo J G
Abstract: Central to tumor evolution is the generation of genetic diversity. However, the extent and patterns by which de novo karyotype alterations emerge and propagate within human tumors are not well understood, especially at single-cell resolution. Here, we present 3D Live-Seq-a protocol that integrates live-cell imaging of tumor organoid outgrowth and whole-genome sequencing of each imaged cell to reconstruct evolving tumor cell karyotypes across consecutive cell generations. Using patient-derived colorectal cancer organoids and fresh tumor biopsies, we demonstrate that karyotype alterations of varying complexity are prevalent and can arise within a few cell generations. Sub-chromosomal acentric fragments were prone to replication and collective missegregation across consecutive cell divisions. In contrast, gross genome-wide karyotype alterations were generated in a single erroneous cell division, providing support that aneuploid tumor genomes can evolve via punctuated evolution. Mapping the temporal dynamics and patterns of karyotype diversification in cancer enables reconstructions of evolutionary paths to malignant fitness.
Published: 2021

13. Antiviral treatment causes a unique mutational signature in cancers of transplantation recipients

Author: de Kanter, Jurrian K., Peci, Flavia, Bertrums, Eline, Rosendahl Huber, Axel, van Leeuwen, Anaïs, van Roosmalen, Markus J., Manders, Freek, Verheul, Mark, Oka, Rurika, Brandsma, Arianne M., Bierings, Marc, Belderbos, Mirjam, van Boxtel, Ruben, de Kanter, Jurrian K., Peci, Flavia, Bertrums, Eline, Rosendahl Huber, Axel, van Leeuwen, Anaïs, van Roosmalen, Markus J., Manders, Freek, Verheul, Mark, Oka, Rurika, Brandsma, Arianne M., Bierings, Marc, Belderbos, Mirjam, and van Boxtel, Ruben
Abstract: Genetic instability is a major concern for successful application of stem cells in regenerative medicine. However, the mutational consequences of the most applied stem cell therapy in humans, hematopoietic stem cell transplantation (HSCT), remain unknown. Here we characterized the mutation burden of hematopoietic stem and progenitor cells (HSPCs) of human HSCT recipients and their donors using whole-genome sequencing. We demonstrate that the majority of transplanted HSPCs did not display altered mutation accumulation. However, in some HSCT recipients, we identified multiple HSPCs with an increased mutation burden after transplantation. This increase could be attributed to a unique mutational signature caused by the antiviral drug ganciclovir. Using a machine learning approach, we detected this signature in cancer genomes of individuals who received HSCT or solid organ transplantation earlier in life. Antiviral treatment with nucleoside analogs can cause enhanced mutagenicity in transplant recipients, which may ultimately contribute to therapy-related carcinogenesis.
Published: 2021

14. Reconstructing single-cell karyotype alterations in colorectal cancer identifies punctuated and gradual diversification patterns

Author: CMM Sectie Molecular Cancer Research, CMM Groep Snippert, Regenerative Medicine and Stem Cells, Cancer, Genetica, MS Medische Oncologie, CMM Groep Kloosterman, Lab Reumatologie/Klinische Immunologie, Epi Infectieziekten Team 2, Infection & Immunity, CMM USEQ Facility, CMM Groep Bos, CMM Groep Lens, CMM, CMM Groep Cuppen, Hubrecht Institute with UMC, CMM Groep De Ridder, Child Health, Bollen, Yannik, Stelloo, Ellen, van Leenen, Petra, van den Bos, Myrna, Ponsioen, Bas, Lu, Bingxin, van Roosmalen, Markus J., Bolhaqueiro, Ana C.F., Kimberley, Christopher, Mossner, Maximilian, Cross, William C.H., Besselink, Nicolle J.M., van der Roest, Bastiaan, Boymans, Sander, Oost, Koen C., de Vries, Sippe G., Rehmann, Holger, Cuppen, Edwin, Lens, Susanne M.A., Kops, Geert J.P.L., Kloosterman, Wigard P., Terstappen, Leon W.M.M., Barnes, Chris P., Sottoriva, Andrea, Graham, Trevor A., Snippert, Hugo J.G., CMM Sectie Molecular Cancer Research, CMM Groep Snippert, Regenerative Medicine and Stem Cells, Cancer, Genetica, MS Medische Oncologie, CMM Groep Kloosterman, Lab Reumatologie/Klinische Immunologie, Epi Infectieziekten Team 2, Infection & Immunity, CMM USEQ Facility, CMM Groep Bos, CMM Groep Lens, CMM, CMM Groep Cuppen, Hubrecht Institute with UMC, CMM Groep De Ridder, Child Health, Bollen, Yannik, Stelloo, Ellen, van Leenen, Petra, van den Bos, Myrna, Ponsioen, Bas, Lu, Bingxin, van Roosmalen, Markus J., Bolhaqueiro, Ana C.F., Kimberley, Christopher, Mossner, Maximilian, Cross, William C.H., Besselink, Nicolle J.M., van der Roest, Bastiaan, Boymans, Sander, Oost, Koen C., de Vries, Sippe G., Rehmann, Holger, Cuppen, Edwin, Lens, Susanne M.A., Kops, Geert J.P.L., Kloosterman, Wigard P., Terstappen, Leon W.M.M., Barnes, Chris P., Sottoriva, Andrea, Graham, Trevor A., and Snippert, Hugo J.G.
Published: 2021

15. Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

Author: Middelkamp, Sjors, Vlaar, Judith M, Giltay, Jacques, Korzelius, Jerome, Besselink, Nicolle, Boymans, Sander, Janssen, Roel, de la Fonteijne, Lisanne, van Binsbergen, Ellen, van Roosmalen, Markus J, Hochstenbach, Ron, Giachino, Daniela, Talkowski, Michael E, Kloosterman, Wigard P, Cuppen, Edwin, Middelkamp, Sjors, Vlaar, Judith M, Giltay, Jacques, Korzelius, Jerome, Besselink, Nicolle, Boymans, Sander, Janssen, Roel, de la Fonteijne, Lisanne, van Binsbergen, Ellen, van Roosmalen, Markus J, Hochstenbach, Ron, Giachino, Daniela, Talkowski, Michael E, Kloosterman, Wigard P, and Cuppen, Edwin
Published: 2019

16. An organoid platform for ovarian cancer captures intra- and interpatient heterogeneity

Author: Kopper, Oded, de Witte, Chris J, Lõhmussaar, Kadi, Valle-Inclan, Jose Espejo, Hami, Nizar, Kester, Lennart, Balgobind, Anjali Vanita, Korving, Jeroen, Proost, Natalie, Begthel, Harry, van Wijk, Lise M, Revilla, Sonia Aristín, Theeuwsen, Rebecca, van de Ven, Marieke, van Roosmalen, Markus J, Ponsioen, Bas, Ho, Victor W H, Neel, Benjamin G, Bosse, Tjalling, Gaarenstroom, Katja N, Vrieling, Harry, Vreeswijk, Maaike P G, van Diest, Paul J, Witteveen, Petronella O, Jonges, Trudy, Bos, Johannes L, van Oudenaarden, Alexander, Zweemer, Ronald P, Snippert, Hugo J G, Kloosterman, Wigard P, Clevers, Hans, Kopper, Oded, de Witte, Chris J, Lõhmussaar, Kadi, Valle-Inclan, Jose Espejo, Hami, Nizar, Kester, Lennart, Balgobind, Anjali Vanita, Korving, Jeroen, Proost, Natalie, Begthel, Harry, van Wijk, Lise M, Revilla, Sonia Aristín, Theeuwsen, Rebecca, van de Ven, Marieke, van Roosmalen, Markus J, Ponsioen, Bas, Ho, Victor W H, Neel, Benjamin G, Bosse, Tjalling, Gaarenstroom, Katja N, Vrieling, Harry, Vreeswijk, Maaike P G, van Diest, Paul J, Witteveen, Petronella O, Jonges, Trudy, Bos, Johannes L, van Oudenaarden, Alexander, Zweemer, Ronald P, Snippert, Hugo J G, Kloosterman, Wigard P, and Clevers, Hans
Published: 2019

17. Identification of human D lactate dehydrogenase deficiency

Author: Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, Jans, Judith J, Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, and Jans, Judith J
Published: 2019

18. Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

Author: Middelkamp, Sjors, Vlaar, Judith M, Giltay, Jacques, Korzelius, Jerome, Besselink, Nicolle, Boymans, Sander, Janssen, Roel, de la Fonteijne, Lisanne, van Binsbergen, Ellen, van Roosmalen, Markus J, Hochstenbach, Ron, Giachino, Daniela, Talkowski, Michael E, Kloosterman, Wigard P, Cuppen, Edwin, Middelkamp, Sjors, Vlaar, Judith M, Giltay, Jacques, Korzelius, Jerome, Besselink, Nicolle, Boymans, Sander, Janssen, Roel, de la Fonteijne, Lisanne, van Binsbergen, Ellen, van Roosmalen, Markus J, Hochstenbach, Ron, Giachino, Daniela, Talkowski, Michael E, Kloosterman, Wigard P, and Cuppen, Edwin
Published: 2019

19. Identification of human D lactate dehydrogenase deficiency

Author: Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, Jans, Judith J, Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, and Jans, Judith J
Published: 2019

20. An organoid platform for ovarian cancer captures intra- and interpatient heterogeneity

Author: Kopper, Oded, de Witte, Chris J, Lõhmussaar, Kadi, Valle-Inclan, Jose Espejo, Hami, Nizar, Kester, Lennart, Balgobind, Anjali Vanita, Korving, Jeroen, Proost, Natalie, Begthel, Harry, van Wijk, Lise M, Revilla, Sonia Aristín, Theeuwsen, Rebecca, van de Ven, Marieke, van Roosmalen, Markus J, Ponsioen, Bas, Ho, Victor W H, Neel, Benjamin G, Bosse, Tjalling, Gaarenstroom, Katja N, Vrieling, Harry, Vreeswijk, Maaike P G, van Diest, Paul J, Witteveen, Petronella O, Jonges, Trudy, Bos, Johannes L, van Oudenaarden, Alexander, Zweemer, Ronald P, Snippert, Hugo J G, Kloosterman, Wigard P, Clevers, Hans, Kopper, Oded, de Witte, Chris J, Lõhmussaar, Kadi, Valle-Inclan, Jose Espejo, Hami, Nizar, Kester, Lennart, Balgobind, Anjali Vanita, Korving, Jeroen, Proost, Natalie, Begthel, Harry, van Wijk, Lise M, Revilla, Sonia Aristín, Theeuwsen, Rebecca, van de Ven, Marieke, van Roosmalen, Markus J, Ponsioen, Bas, Ho, Victor W H, Neel, Benjamin G, Bosse, Tjalling, Gaarenstroom, Katja N, Vrieling, Harry, Vreeswijk, Maaike P G, van Diest, Paul J, Witteveen, Petronella O, Jonges, Trudy, Bos, Johannes L, van Oudenaarden, Alexander, Zweemer, Ronald P, Snippert, Hugo J G, Kloosterman, Wigard P, and Clevers, Hans
Published: 2019

21. An organoid platform for ovarian cancer captures intra- and interpatient heterogeneity

Author: Kopper, Oded, de Witte, Chris J, Lõhmussaar, Kadi, Valle-Inclan, Jose Espejo, Hami, Nizar, Kester, Lennart, Balgobind, Anjali Vanita, Korving, Jeroen, Proost, Natalie, Begthel, Harry, van Wijk, Lise M, Revilla, Sonia Aristín, Theeuwsen, Rebecca, van de Ven, Marieke, van Roosmalen, Markus J, Ponsioen, Bas, Ho, Victor W H, Neel, Benjamin G, Bosse, Tjalling, Gaarenstroom, Katja N, Vrieling, Harry, Vreeswijk, Maaike P G, van Diest, Paul J, Witteveen, Petronella O, Jonges, Trudy, Bos, Johannes L, van Oudenaarden, Alexander, Zweemer, Ronald P, Snippert, Hugo J G, Kloosterman, Wigard P, Clevers, Hans, Kopper, Oded, de Witte, Chris J, Lõhmussaar, Kadi, Valle-Inclan, Jose Espejo, Hami, Nizar, Kester, Lennart, Balgobind, Anjali Vanita, Korving, Jeroen, Proost, Natalie, Begthel, Harry, van Wijk, Lise M, Revilla, Sonia Aristín, Theeuwsen, Rebecca, van de Ven, Marieke, van Roosmalen, Markus J, Ponsioen, Bas, Ho, Victor W H, Neel, Benjamin G, Bosse, Tjalling, Gaarenstroom, Katja N, Vrieling, Harry, Vreeswijk, Maaike P G, van Diest, Paul J, Witteveen, Petronella O, Jonges, Trudy, Bos, Johannes L, van Oudenaarden, Alexander, Zweemer, Ronald P, Snippert, Hugo J G, Kloosterman, Wigard P, and Clevers, Hans
Abstract: Ovarian cancer (OC) is a heterogeneous disease usually diagnosed at a late stage. Experimental in vitro models that faithfully capture the hallmarks and tumor heterogeneity of OC are limited and hard to establish. We present a protocol that enables efficient derivation and long-term expansion of OC organoids. Utilizing this protocol, we have established 56 organoid lines from 32 patients, representing all main subtypes of OC. OC organoids recapitulate histological and genomic features of the pertinent lesion from which they were derived, illustrating intra- and interpatient heterogeneity, and can be genetically modified. We show that OC organoids can be used for drug-screening assays and capture different tumor subtype responses to the gold standard platinum-based chemotherapy, including acquisition of chemoresistance in recurrent disease. Finally, OC organoids can be xenografted, enabling in vivo drug-sensitivity assays. Taken together, this demonstrates their potential application for research and personalized medicine.
Published: 2019

22. Identification of human D lactate dehydrogenase deficiency

Author: Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, Jans, Judith J, Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, and Jans, Judith J
Abstract: Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the identification of two different homozygous variants resulting in enzymatic loss-of-function in LDHD, encoding lactate dehydrogenase D, in two unrelated patients with elevated D-lactate urinary excretion and plasma concentrations. We establish the role of LDHD by demonstrating that LDHD loss-of-function in zebrafish results in increased concentrations of D-lactate. D-lactate levels are rescued by wildtype LDHD but not by patients' variant LDHD, confirming these variants' loss-of-function effect. This work provides the first in vivo evidence that LDHD is responsible for human D-lactate metabolism. This broadens the differential diagnosis of D-lactic acidosis, an increasingly recognized complication of short bowel syndrome with unpredictable onset and severity. With the expanding incidence of intestinal resection for disease or obesity, the elucidation of this metabolic pathway may have relevance for those patients with D-lactic acidosis.
Published: 2019

23. Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

Author: Middelkamp, Sjors, Vlaar, Judith M, Giltay, Jacques, Korzelius, Jerome, Besselink, Nicolle, Boymans, Sander, Janssen, Roel, de la Fonteijne, Lisanne, van Binsbergen, Ellen, van Roosmalen, Markus J, Hochstenbach, Ron, Giachino, Daniela, Talkowski, Michael E, Kloosterman, Wigard P, Cuppen, Edwin, Middelkamp, Sjors, Vlaar, Judith M, Giltay, Jacques, Korzelius, Jerome, Besselink, Nicolle, Boymans, Sander, Janssen, Roel, de la Fonteijne, Lisanne, van Binsbergen, Ellen, van Roosmalen, Markus J, Hochstenbach, Ron, Giachino, Daniela, Talkowski, Michael E, Kloosterman, Wigard P, and Cuppen, Edwin
Published: 2019

24. An organoid platform for ovarian cancer captures intra- and interpatient heterogeneity

Author: Kopper, Oded, de Witte, Chris J, Lõhmussaar, Kadi, Valle-Inclan, Jose Espejo, Hami, Nizar, Kester, Lennart, Balgobind, Anjali Vanita, Korving, Jeroen, Proost, Natalie, Begthel, Harry, van Wijk, Lise M, Revilla, Sonia Aristín, Theeuwsen, Rebecca, van de Ven, Marieke, van Roosmalen, Markus J, Ponsioen, Bas, Ho, Victor W H, Neel, Benjamin G, Bosse, Tjalling, Gaarenstroom, Katja N, Vrieling, Harry, Vreeswijk, Maaike P G, van Diest, Paul J, Witteveen, Petronella O, Jonges, Trudy, Bos, Johannes L, van Oudenaarden, Alexander, Zweemer, Ronald P, Snippert, Hugo J G, Kloosterman, Wigard P, Clevers, Hans, Kopper, Oded, de Witte, Chris J, Lõhmussaar, Kadi, Valle-Inclan, Jose Espejo, Hami, Nizar, Kester, Lennart, Balgobind, Anjali Vanita, Korving, Jeroen, Proost, Natalie, Begthel, Harry, van Wijk, Lise M, Revilla, Sonia Aristín, Theeuwsen, Rebecca, van de Ven, Marieke, van Roosmalen, Markus J, Ponsioen, Bas, Ho, Victor W H, Neel, Benjamin G, Bosse, Tjalling, Gaarenstroom, Katja N, Vrieling, Harry, Vreeswijk, Maaike P G, van Diest, Paul J, Witteveen, Petronella O, Jonges, Trudy, Bos, Johannes L, van Oudenaarden, Alexander, Zweemer, Ronald P, Snippert, Hugo J G, Kloosterman, Wigard P, and Clevers, Hans
Published: 2019

25. Identification of human D lactate dehydrogenase deficiency

Author: Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, Jans, Judith J, Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, and Jans, Judith J
Published: 2019

26. Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

Author: Cancer, CMM Groep Cuppen, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Kloosterman, Brain, CMM Groep De Ridder, CMM, Middelkamp, Sjors, Vlaar, Judith M, Giltay, Jacques, Korzelius, Jerome, Besselink, Nicolle, Boymans, Sander, Janssen, Roel, de la Fonteijne, Lisanne, van Binsbergen, Ellen, van Roosmalen, Markus J, Hochstenbach, Ron, Giachino, Daniela, Talkowski, Michael E, Kloosterman, Wigard P, Cuppen, Edwin, Cancer, CMM Groep Cuppen, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Kloosterman, Brain, CMM Groep De Ridder, CMM, Middelkamp, Sjors, Vlaar, Judith M, Giltay, Jacques, Korzelius, Jerome, Besselink, Nicolle, Boymans, Sander, Janssen, Roel, de la Fonteijne, Lisanne, van Binsbergen, Ellen, van Roosmalen, Markus J, Hochstenbach, Ron, Giachino, Daniela, Talkowski, Michael E, Kloosterman, Wigard P, and Cuppen, Edwin
Published: 2019

27. Identification of human D lactate dehydrogenase deficiency

Author: MS Gynaecologische Oncologie, Circulatory Health, Genetica Klinische Genetica, Child Health, Genetica Groep Van Haaften, Metabole ziekten patientenzorg, Regenerative Medicine and Stem Cells, Genetica Sectie Metabole Diagnostiek, CMM Groep Kloosterman, Genetica Sectie Genoomdiagnostiek, LKCH Staf Patiëntenzorg, ZL Kinder Ner en Nec Medisch, Brain, Genetica, Medische Fysiologie, Cancer, CMM Sectie Genomics and Bioinformatics, Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, Jans, Judith J, MS Gynaecologische Oncologie, Circulatory Health, Genetica Klinische Genetica, Child Health, Genetica Groep Van Haaften, Metabole ziekten patientenzorg, Regenerative Medicine and Stem Cells, Genetica Sectie Metabole Diagnostiek, CMM Groep Kloosterman, Genetica Sectie Genoomdiagnostiek, LKCH Staf Patiëntenzorg, ZL Kinder Ner en Nec Medisch, Brain, Genetica, Medische Fysiologie, Cancer, CMM Sectie Genomics and Bioinformatics, Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, and Jans, Judith J
Published: 2019

28. An organoid platform for ovarian cancer captures intra- and interpatient heterogeneity

Author: Kopper, Oded, de Witte, Chris J, Lõhmussaar, Kadi, Valle-Inclan, Jose Espejo, Hami, Nizar, Kester, Lennart, Balgobind, Anjali Vanita, Korving, Jeroen, Proost, Natalie, Begthel, Harry, van Wijk, Lise M, Revilla, Sonia Aristín, Theeuwsen, Rebecca, van de Ven, Marieke, van Roosmalen, Markus J, Ponsioen, Bas, Ho, Victor W H, Neel, Benjamin G, Bosse, Tjalling, Gaarenstroom, Katja N, Vrieling, Harry, Vreeswijk, Maaike P G, van Diest, Paul J, Witteveen, Petronella O, Jonges, Trudy, Bos, Johannes L, van Oudenaarden, Alexander, Zweemer, Ronald P, Snippert, Hugo J G, Kloosterman, Wigard P, Clevers, Hans, Kopper, Oded, de Witte, Chris J, Lõhmussaar, Kadi, Valle-Inclan, Jose Espejo, Hami, Nizar, Kester, Lennart, Balgobind, Anjali Vanita, Korving, Jeroen, Proost, Natalie, Begthel, Harry, van Wijk, Lise M, Revilla, Sonia Aristín, Theeuwsen, Rebecca, van de Ven, Marieke, van Roosmalen, Markus J, Ponsioen, Bas, Ho, Victor W H, Neel, Benjamin G, Bosse, Tjalling, Gaarenstroom, Katja N, Vrieling, Harry, Vreeswijk, Maaike P G, van Diest, Paul J, Witteveen, Petronella O, Jonges, Trudy, Bos, Johannes L, van Oudenaarden, Alexander, Zweemer, Ronald P, Snippert, Hugo J G, Kloosterman, Wigard P, and Clevers, Hans
Abstract: Ovarian cancer (OC) is a heterogeneous disease usually diagnosed at a late stage. Experimental in vitro models that faithfully capture the hallmarks and tumor heterogeneity of OC are limited and hard to establish. We present a protocol that enables efficient derivation and long-term expansion of OC organoids. Utilizing this protocol, we have established 56 organoid lines from 32 patients, representing all main subtypes of OC. OC organoids recapitulate histological and genomic features of the pertinent lesion from which they were derived, illustrating intra- and interpatient heterogeneity, and can be genetically modified. We show that OC organoids can be used for drug-screening assays and capture different tumor subtype responses to the gold standard platinum-based chemotherapy, including acquisition of chemoresistance in recurrent disease. Finally, OC organoids can be xenografted, enabling in vivo drug-sensitivity assays. Taken together, this demonstrates their potential application for research and personalized medicine.
Published: 2019

29. Identification of human D lactate dehydrogenase deficiency

Author: Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, Jans, Judith J, Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, and Jans, Judith J
Abstract: Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the identification of two different homozygous variants resulting in enzymatic loss-of-function in LDHD, encoding lactate dehydrogenase D, in two unrelated patients with elevated D-lactate urinary excretion and plasma concentrations. We establish the role of LDHD by demonstrating that LDHD loss-of-function in zebrafish results in increased concentrations of D-lactate. D-lactate levels are rescued by wildtype LDHD but not by patients' variant LDHD, confirming these variants' loss-of-function effect. This work provides the first in vivo evidence that LDHD is responsible for human D-lactate metabolism. This broadens the differential diagnosis of D-lactic acidosis, an increasingly recognized complication of short bowel syndrome with unpredictable onset and severity. With the expanding incidence of intestinal resection for disease or obesity, the elucidation of this metabolic pathway may have relevance for those patients with D-lactic acidosis.
Published: 2019

30. Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Author: Cretu Stancu, Mircea, van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, Kloosterman, Wigard P, Cretu Stancu, Mircea, van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, and Kloosterman, Wigard P
Published: 2017

31. Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

Author: Middelkamp, Sjors, van Heesch, S.A.A.C., Braat, Koen, de Ligt, J, van Iterson, Maarten, Simonis, Marieke, van Roosmalen, Markus J., Kelder, Martijn J E, Kruisselbrink, Evelien, Hochstenbach, Ron, Verbeek, Nienke, Ippel, Elly, Adolfs, Y., Pasterkamp, R. Jeroen, Kloosterman, Wigard P., Kuijk, Ewart W., Cuppen, Edwin, Middelkamp, Sjors, van Heesch, S.A.A.C., Braat, Koen, de Ligt, J, van Iterson, Maarten, Simonis, Marieke, van Roosmalen, Markus J., Kelder, Martijn J E, Kruisselbrink, Evelien, Hochstenbach, Ron, Verbeek, Nienke, Ippel, Elly, Adolfs, Y., Pasterkamp, R. Jeroen, Kloosterman, Wigard P., Kuijk, Ewart W., and Cuppen, Edwin
Published: 2017

32. Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Author: Cretu Stancu, Mircea, van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, Kloosterman, Wigard P, Cretu Stancu, Mircea, van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, and Kloosterman, Wigard P
Published: 2017

33. Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

Author: Middelkamp, Sjors, van Heesch, S.A.A.C., Braat, Koen, de Ligt, J, van Iterson, Maarten, Simonis, Marieke, van Roosmalen, Markus J., Kelder, Martijn J E, Kruisselbrink, Evelien, Hochstenbach, Ron, Verbeek, Nienke, Ippel, Elly, Adolfs, Y., Pasterkamp, R. Jeroen, Kloosterman, Wigard P., Kuijk, Ewart W., Cuppen, Edwin, Middelkamp, Sjors, van Heesch, S.A.A.C., Braat, Koen, de Ligt, J, van Iterson, Maarten, Simonis, Marieke, van Roosmalen, Markus J., Kelder, Martijn J E, Kruisselbrink, Evelien, Hochstenbach, Ron, Verbeek, Nienke, Ippel, Elly, Adolfs, Y., Pasterkamp, R. Jeroen, Kloosterman, Wigard P., Kuijk, Ewart W., and Cuppen, Edwin
Published: 2017

34. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Author: Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, Talkowski, Michael E, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, and Talkowski, Michael E
Published: 2017

35. Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Author: Cretu Stancu, Mircea, van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, Kloosterman, Wigard P, Cretu Stancu, Mircea, van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, and Kloosterman, Wigard P
Published: 2017

36. Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

Author: Middelkamp, Sjors, van Heesch, S.A.A.C., Braat, Koen, de Ligt, J, van Iterson, Maarten, Simonis, Marieke, van Roosmalen, Markus J., Kelder, Martijn J E, Kruisselbrink, Evelien, Hochstenbach, Ron, Verbeek, Nienke, Ippel, Elly, Adolfs, Y., Pasterkamp, R. Jeroen, Kloosterman, Wigard P., Kuijk, Ewart W., Cuppen, Edwin, Middelkamp, Sjors, van Heesch, S.A.A.C., Braat, Koen, de Ligt, J, van Iterson, Maarten, Simonis, Marieke, van Roosmalen, Markus J., Kelder, Martijn J E, Kruisselbrink, Evelien, Hochstenbach, Ron, Verbeek, Nienke, Ippel, Elly, Adolfs, Y., Pasterkamp, R. Jeroen, Kloosterman, Wigard P., Kuijk, Ewart W., and Cuppen, Edwin
Published: 2017

37. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Author: Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, Talkowski, Michael E, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, and Talkowski, Michael E
Published: 2017

38. Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Author: CMM Groep Kaaij, Circulatory Health, CMM Groep Kloosterman, Genetica, CMM Groep De Ridder, CMM Groep Cuppen, Cancer, CMM, CMM Sectie Genomics and Bioinformatics, Child Health, Cretu Stancu, Mircea, van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, Kloosterman, Wigard P, CMM Groep Kaaij, Circulatory Health, CMM Groep Kloosterman, Genetica, CMM Groep De Ridder, CMM Groep Cuppen, Cancer, CMM, CMM Sectie Genomics and Bioinformatics, Child Health, Cretu Stancu, Mircea, van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, and Kloosterman, Wigard P
Published: 2017

39. Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

Author: CMM Groep Cuppen, Cancer, CMM Groep Coffer, Regenerative Medicine and Stem Cells, Child Health, CMM Groep Kloosterman, CTI, Genetica Sectie Genoomdiagnostiek, Brain, Genetica Klinische Genetica, TN groep Pasterkamp, Circulatory Health, Middelkamp, Sjors, van Heesch, S.A.A.C., Braat, Koen, de Ligt, J, van Iterson, Maarten, Simonis, Marieke, van Roosmalen, Markus J., Kelder, Martijn J E, Kruisselbrink, Evelien, Hochstenbach, Ron, Verbeek, Nienke, Ippel, Elly, Adolfs, Y., Pasterkamp, R. Jeroen, Kloosterman, Wigard P., Kuijk, Ewart W., Cuppen, Edwin, CMM Groep Cuppen, Cancer, CMM Groep Coffer, Regenerative Medicine and Stem Cells, Child Health, CMM Groep Kloosterman, CTI, Genetica Sectie Genoomdiagnostiek, Brain, Genetica Klinische Genetica, TN groep Pasterkamp, Circulatory Health, Middelkamp, Sjors, van Heesch, S.A.A.C., Braat, Koen, de Ligt, J, van Iterson, Maarten, Simonis, Marieke, van Roosmalen, Markus J., Kelder, Martijn J E, Kruisselbrink, Evelien, Hochstenbach, Ron, Verbeek, Nienke, Ippel, Elly, Adolfs, Y., Pasterkamp, R. Jeroen, Kloosterman, Wigard P., Kuijk, Ewart W., and Cuppen, Edwin
Published: 2017

40. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Author: Genetica Klinische Genetica, Brain, CMM, Circulatory Health, Cancer, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, Genetica, CMM Groep Kloosterman, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, Talkowski, Michael E, Genetica Klinische Genetica, Brain, CMM, Circulatory Health, Cancer, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, Genetica, CMM Groep Kloosterman, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, and Talkowski, Michael E
Published: 2017

41. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Author: van der Crabben, Saskia N, Hennus, Marije P, McGregor, Grant A, Ritter, Deborah I, Nagamani, Sandesh C S, Wells, Owen S, Harakalova, Magdalena, Chinn, Ivan K, Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M, Terheggen-Lagro, Suzanne W, van Lieshout, Stef, van Roosmalen, Markus J, Renkens, Ivo, Duran, Karen, Nijman, Isaäc J., Kloosterman, Wigard P, Hennekam, Eric, Orange, Jordan S, van Hasselt, Peter M, Wheeler, David A, Palecek, Jan J, Lehmann, Alan R, Oliver, Antony W, Pearl, Laurence H, Plon, Sharon E, Murray, Johanne M, van Haaften, Gijs, van der Crabben, Saskia N, Hennus, Marije P, McGregor, Grant A, Ritter, Deborah I, Nagamani, Sandesh C S, Wells, Owen S, Harakalova, Magdalena, Chinn, Ivan K, Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M, Terheggen-Lagro, Suzanne W, van Lieshout, Stef, van Roosmalen, Markus J, Renkens, Ivo, Duran, Karen, Nijman, Isaäc J., Kloosterman, Wigard P, Hennekam, Eric, Orange, Jordan S, van Hasselt, Peter M, Wheeler, David A, Palecek, Jan J, Lehmann, Alan R, Oliver, Antony W, Pearl, Laurence H, Plon, Sharon E, Murray, Johanne M, and van Haaften, Gijs
Published: 2016

42. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Author: van der Crabben, Saskia N, Hennus, Marije P, McGregor, Grant A, Ritter, Deborah I, Nagamani, Sandesh C S, Wells, Owen S, Harakalova, Magdalena, Chinn, Ivan K, Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M, Terheggen-Lagro, Suzanne W, van Lieshout, Stef, van Roosmalen, Markus J, Renkens, Ivo, Duran, Karen, Nijman, Isaäc J., Kloosterman, Wigard P, Hennekam, Eric, Orange, Jordan S, van Hasselt, Peter M, Wheeler, David A, Palecek, Jan J, Lehmann, Alan R, Oliver, Antony W, Pearl, Laurence H, Plon, Sharon E, Murray, Johanne M, van Haaften, Gijs, van der Crabben, Saskia N, Hennus, Marije P, McGregor, Grant A, Ritter, Deborah I, Nagamani, Sandesh C S, Wells, Owen S, Harakalova, Magdalena, Chinn, Ivan K, Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M, Terheggen-Lagro, Suzanne W, van Lieshout, Stef, van Roosmalen, Markus J, Renkens, Ivo, Duran, Karen, Nijman, Isaäc J., Kloosterman, Wigard P, Hennekam, Eric, Orange, Jordan S, van Hasselt, Peter M, Wheeler, David A, Palecek, Jan J, Lehmann, Alan R, Oliver, Antony W, Pearl, Laurence H, Plon, Sharon E, Murray, Johanne M, and van Haaften, Gijs
Published: 2016

43. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Author: van der Crabben, Saskia N, Hennus, Marije P, McGregor, Grant A, Ritter, Deborah I, Nagamani, Sandesh C S, Wells, Owen S, Harakalova, Magdalena, Chinn, Ivan K, Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M, Terheggen-Lagro, Suzanne W, van Lieshout, Stef, van Roosmalen, Markus J, Renkens, Ivo, Duran, Karen, Nijman, Isaäc J., Kloosterman, Wigard P, Hennekam, Eric, Orange, Jordan S, van Hasselt, Peter M, Wheeler, David A, Palecek, Jan J, Lehmann, Alan R, Oliver, Antony W, Pearl, Laurence H, Plon, Sharon E, Murray, Johanne M, van Haaften, Gijs, van der Crabben, Saskia N, Hennus, Marije P, McGregor, Grant A, Ritter, Deborah I, Nagamani, Sandesh C S, Wells, Owen S, Harakalova, Magdalena, Chinn, Ivan K, Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M, Terheggen-Lagro, Suzanne W, van Lieshout, Stef, van Roosmalen, Markus J, Renkens, Ivo, Duran, Karen, Nijman, Isaäc J., Kloosterman, Wigard P, Hennekam, Eric, Orange, Jordan S, van Hasselt, Peter M, Wheeler, David A, Palecek, Jan J, Lehmann, Alan R, Oliver, Antony W, Pearl, Laurence H, Plon, Sharon E, Murray, Johanne M, and van Haaften, Gijs
Published: 2016

44. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Author: Metabole ziekten patientenzorg, Intensive care patientenzorg, Other research (not in main researchprogram), Infection & Immunity, Cardiologie Arts-onderzoekers, Genetica Sectie Genoomdiagnostiek, Brain, Immuno/reuma patientenzorg, Child Health, Genetica, CMM Groep Kloosterman, Genetica Groep Van Haaften, CMM Groep Cuppen, Cancer, Genetica Medische Informatica, Genetica Klinische Genetica, CMM Sectie Genomics and Bioinformatics, van der Crabben, Saskia N, Hennus, Marije P, McGregor, Grant A, Ritter, Deborah I, Nagamani, Sandesh C S, Wells, Owen S, Harakalova, Magdalena, Chinn, Ivan K, Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M, Terheggen-Lagro, Suzanne W, van Lieshout, Stef, van Roosmalen, Markus J, Renkens, Ivo, Duran, Karen, Nijman, Isaäc J., Kloosterman, Wigard P, Hennekam, Eric, Orange, Jordan S, van Hasselt, Peter M, Wheeler, David A, Palecek, Jan J, Lehmann, Alan R, Oliver, Antony W, Pearl, Laurence H, Plon, Sharon E, Murray, Johanne M, van Haaften, Gijs, Metabole ziekten patientenzorg, Intensive care patientenzorg, Other research (not in main researchprogram), Infection & Immunity, Cardiologie Arts-onderzoekers, Genetica Sectie Genoomdiagnostiek, Brain, Immuno/reuma patientenzorg, Child Health, Genetica, CMM Groep Kloosterman, Genetica Groep Van Haaften, CMM Groep Cuppen, Cancer, Genetica Medische Informatica, Genetica Klinische Genetica, CMM Sectie Genomics and Bioinformatics, van der Crabben, Saskia N, Hennus, Marije P, McGregor, Grant A, Ritter, Deborah I, Nagamani, Sandesh C S, Wells, Owen S, Harakalova, Magdalena, Chinn, Ivan K, Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M, Terheggen-Lagro, Suzanne W, van Lieshout, Stef, van Roosmalen, Markus J, Renkens, Ivo, Duran, Karen, Nijman, Isaäc J., Kloosterman, Wigard P, Hennekam, Eric, Orange, Jordan S, van Hasselt, Peter M, Wheeler, David A, Palecek, Jan J, Lehmann, Alan R, Oliver, Antony W, Pearl, Laurence H, Plon, Sharon E, Murray, Johanne M, and van Haaften, Gijs
Published: 2016

45. Characteristics of de novo structural changes in the human genome

Author: Kloosterman, Wigard P., Francioli, Laurent C., Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y., Abdellaoui, Abdel, Lameijer, Eric Wubbo, Moed, Matthijs H., Koval, Vyacheslav, Renkens, Ivo, Van Roosmalen, Markus J., Arp, Pascal, Karssen, Lennart C., Coe, Bradley P., Handsaker, Robert E., Suchiman, Eka D., Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C., Uitterlinden, André, Van Duijn, Cornelia M., Swertz, Morris A., Wijmenga, Cisca, Van Ommen, Gert Jan B, Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Eichler, Evan E., De Bakker, Paul I W, Ye, Kai, Guryev, Victor, Bovenberg, Jasper A., De Craen, Anton J M, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Van Dijk, Freerk, Neerincx, Pieter B T, Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen F J, Den Dunnen, Johan T., De Knijff, Peter, Van Leeuwen, Elisa M., Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, De Ligt, Joep, Hottenga, Jouke Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, McCarroll, Steven A., Ko, Arthur, Sudmant, Peter, Nijman, Isaac J., Kloosterman, Wigard P., Francioli, Laurent C., Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y., Abdellaoui, Abdel, Lameijer, Eric Wubbo, Moed, Matthijs H., Koval, Vyacheslav, Renkens, Ivo, Van Roosmalen, Markus J., Arp, Pascal, Karssen, Lennart C., Coe, Bradley P., Handsaker, Robert E., Suchiman, Eka D., Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C., Uitterlinden, André, Van Duijn, Cornelia M., Swertz, Morris A., Wijmenga, Cisca, Van Ommen, Gert Jan B, Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Eichler, Evan E., De Bakker, Paul I W, Ye, Kai, Guryev, Victor, Bovenberg, Jasper A., De Craen, Anton J M, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Van Dijk, Freerk, Neerincx, Pieter B T, Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen F J, Den Dunnen, Johan T., De Knijff, Peter, Van Leeuwen, Elisa M., Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, De Ligt, Joep, Hottenga, Jouke Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, McCarroll, Steven A., Ko, Arthur, Sudmant, Peter, and Nijman, Isaac J.
Published: 2015

46. Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring

Author: de Pagter, Mirjam S., van Roosmalen, Markus J., Baas, AF, Renkens, I.J., Duran, KJ, van Binsbergen, E, Tavakoli-Yaraki, Masoumeh, Hochstenbach, Ron, van der Veken, Lars T., Cuppen, Edwin, Kloosterman, Wigard P., de Pagter, Mirjam S., van Roosmalen, Markus J., Baas, AF, Renkens, I.J., Duran, KJ, van Binsbergen, E, Tavakoli-Yaraki, Masoumeh, Hochstenbach, Ron, van der Veken, Lars T., Cuppen, Edwin, and Kloosterman, Wigard P.
Published: 2015

47. Characteristics of de novo structural changes in the human genome

Author: Kloosterman, Wigard P., Francioli, Laurent C., Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y., Abdellaoui, Abdel, Lameijer, Eric Wubbo, Moed, Matthijs H., Koval, Vyacheslav, Renkens, Ivo, Van Roosmalen, Markus J., Arp, Pascal, Karssen, Lennart C., Coe, Bradley P., Handsaker, Robert E., Suchiman, Eka D., Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C., Uitterlinden, André, Van Duijn, Cornelia M., Swertz, Morris A., Wijmenga, Cisca, Van Ommen, Gert Jan B, Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Eichler, Evan E., De Bakker, Paul I W, Ye, Kai, Guryev, Victor, Bovenberg, Jasper A., De Craen, Anton J M, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Van Dijk, Freerk, Neerincx, Pieter B T, Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen F J, Den Dunnen, Johan T., De Knijff, Peter, Van Leeuwen, Elisa M., Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, De Ligt, Joep, Hottenga, Jouke Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, McCarroll, Steven A., Ko, Arthur, Sudmant, Peter, Nijman, Isaac J., Kloosterman, Wigard P., Francioli, Laurent C., Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y., Abdellaoui, Abdel, Lameijer, Eric Wubbo, Moed, Matthijs H., Koval, Vyacheslav, Renkens, Ivo, Van Roosmalen, Markus J., Arp, Pascal, Karssen, Lennart C., Coe, Bradley P., Handsaker, Robert E., Suchiman, Eka D., Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C., Uitterlinden, André, Van Duijn, Cornelia M., Swertz, Morris A., Wijmenga, Cisca, Van Ommen, Gert Jan B, Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Eichler, Evan E., De Bakker, Paul I W, Ye, Kai, Guryev, Victor, Bovenberg, Jasper A., De Craen, Anton J M, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Van Dijk, Freerk, Neerincx, Pieter B T, Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen F J, Den Dunnen, Johan T., De Knijff, Peter, Van Leeuwen, Elisa M., Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, De Ligt, Joep, Hottenga, Jouke Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, McCarroll, Steven A., Ko, Arthur, Sudmant, Peter, and Nijman, Isaac J.
Published: 2015

48. Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring

Author: de Pagter, Mirjam S., van Roosmalen, Markus J., Baas, AF, Renkens, I.J., Duran, KJ, van Binsbergen, E, Tavakoli-Yaraki, Masoumeh, Hochstenbach, Ron, van der Veken, Lars T., Cuppen, Edwin, Kloosterman, Wigard P., de Pagter, Mirjam S., van Roosmalen, Markus J., Baas, AF, Renkens, I.J., Duran, KJ, van Binsbergen, E, Tavakoli-Yaraki, Masoumeh, Hochstenbach, Ron, van der Veken, Lars T., Cuppen, Edwin, and Kloosterman, Wigard P.
Published: 2015

49. Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring

Author: de Pagter, Mirjam S, van Roosmalen, Markus J, Baas, Annette F, Renkens, Ivo, Duran, Karen J, van Binsbergen, Ellen, Tavakoli-Yaraki, Masoumeh, Hochstenbach, Ron, van der Veken, Lars T, Cuppen, Edwin, Kloosterman, Wigard P, de Pagter, Mirjam S, van Roosmalen, Markus J, Baas, Annette F, Renkens, Ivo, Duran, Karen J, van Binsbergen, Ellen, Tavakoli-Yaraki, Masoumeh, Hochstenbach, Ron, van der Veken, Lars T, Cuppen, Edwin, and Kloosterman, Wigard P
Abstract: Chromothripsis represents an extreme class of complex chromosome rearrangements (CCRs) with major effects on chromosomal architecture. Although recent studies have associated chromothripsis with congenital abnormalities, the incidence and pathogenic effects of this phenomenon require further investigation. Here, we analyzed the genomes of three families in which chromothripsis rearrangements were transmitted from a mother to her child. The chromothripsis in the mothers resulted in completely balanced rearrangements involving 8-23 breakpoint junctions across three to five chromosomes. Two mothers did not show any phenotypic abnormalities, although 3-13 protein-coding genes were affected by breakpoints. Unbalanced but stable transmission of a subset of the derivative chromosomes caused apparently de novo complex copy-number changes in two children. This resulted in gene-dosage changes, which are probably responsible for the severe congenital phenotypes of these two children. In contrast, the third child, who has a severe congenital disease, harbored all three chromothripsis chromosomes from his healthy mother, but one of the chromosomes acquired de novo rearrangements leading to copy-number changes. These results show that the human genome can tolerate extreme reshuffling of chromosomal architecture, including breakage of multiple protein-coding genes, without noticeable phenotypic effects. The presence of chromothripsis in healthy individuals affects reproduction and is expected to substantially increase the risk of miscarriages, abortions, and severe congenital disease.
Published: 2015

50. Characteristics of de novo structural changes in the human genome

Author: Kloosterman, Wigard P., Francioli, Laurent C., Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y., Abdellaoui, Abdel, Lameijer, Eric Wubbo, Moed, Matthijs H., Koval, Vyacheslav, Renkens, Ivo, Van Roosmalen, Markus J., Arp, Pascal, Karssen, Lennart C., Coe, Bradley P., Handsaker, Robert E., Suchiman, Eka D., Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C., Uitterlinden, André, Van Duijn, Cornelia M., Swertz, Morris A., Wijmenga, Cisca, Van Ommen, Gert Jan B, Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Eichler, Evan E., De Bakker, Paul I W, Ye, Kai, Guryev, Victor, Bovenberg, Jasper A., De Craen, Anton J M, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Van Dijk, Freerk, Neerincx, Pieter B T, Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen F J, Den Dunnen, Johan T., De Knijff, Peter, Van Leeuwen, Elisa M., Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, De Ligt, Joep, Hottenga, Jouke Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, McCarroll, Steven A., Ko, Arthur, Sudmant, Peter, Nijman, Isaac J., Kloosterman, Wigard P., Francioli, Laurent C., Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y., Abdellaoui, Abdel, Lameijer, Eric Wubbo, Moed, Matthijs H., Koval, Vyacheslav, Renkens, Ivo, Van Roosmalen, Markus J., Arp, Pascal, Karssen, Lennart C., Coe, Bradley P., Handsaker, Robert E., Suchiman, Eka D., Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C., Uitterlinden, André, Van Duijn, Cornelia M., Swertz, Morris A., Wijmenga, Cisca, Van Ommen, Gert Jan B, Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Eichler, Evan E., De Bakker, Paul I W, Ye, Kai, Guryev, Victor, Bovenberg, Jasper A., De Craen, Anton J M, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Van Dijk, Freerk, Neerincx, Pieter B T, Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen F J, Den Dunnen, Johan T., De Knijff, Peter, Van Leeuwen, Elisa M., Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, De Ligt, Joep, Hottenga, Jouke Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, McCarroll, Steven A., Ko, Arthur, Sudmant, Peter, and Nijman, Isaac J.
Published: 2015

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