466 results on '"Kloosterman, Wigard P."'
Search Results
52. MicroRNA Expression in Zebrafish Embryonic Development
- Author
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Wienholds, Erno, Kloosterman, Wigard P., Miska, Eric, Alvarez-Saavedra, Ezequiel, Berezikov, Eugene, de Bruijn, Ewart, Horvitz, H. Robert, and Kauppinen, Sakari
- Published
- 2005
53. LPIN2 Is Associated With Type 2 Diabetes, Glucose Metabolism, and Body Composition
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Aulchenko, Yurii S., Pullen, Jan, Kloosterman, Wigard P., Yazdanpanah, Mojgan, Hofman, Albert, Vaessen, Norbert, Snijders, Pieter J.L.M., Zubakov, Dmitry, Mackay, Ian, Olavesen, Mark, Sidhu, Balbinder, Smith, Vicki E., Carey, Alisoun, Berezikov, Eugene, Uitterlinden, André G., Plasterk, Ronald H.A., Oostra, Ben A., and van Duijn, Cornelia M.
- Published
- 2007
54. Mouse microRNA profiles determined with a new and sensitive cloning method
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Takada, Shuji, Berezikov, Eugene, Yamashita, Yoshihiro, Lagos-Quintana, Mariana, Kloosterman, Wigard P., Enomoto, Munehiro, Hatanaka, Hisashi, Fujiwara, Shin-ichiro, Watanabe, Hideki, Soda, Manabu, Choi, Young Lim, Plasterk, Ronald H. A., Cuppen, Edwin, and Mano, Hiroyuki
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- 2006
55. Cloning and expression of new microRNAs from zebrafish
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Kloosterman, Wigard P., Steiner, Florian A., Berezikov, Eugene, de Bruijn, Ewart, van de Belt, Jose, Verheul, Mark, Cuppen, Edwin, and Plasterk, Ronald H.A.
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- 2006
56. Multi-contact 4C: long-molecule sequencing of complex proximity ligation products to uncover local cooperative and competitive chromatin topologies
- Author
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CMM Groep De Ridder, Hubrecht Institute with UMC, Cancer, Child Health, Genetica, Vermeulen, Carlo, Allahyar, Amin, Bouwman, Britta A M, Krijger, Peter H L, Verstegen, Marjon J A M, Geeven, Geert, Valdes-Quezada, Christian, Renkens, Ivo, Straver, Roy, Kloosterman, Wigard P, de Ridder, Jeroen, de Laat, Wouter, CMM Groep De Ridder, Hubrecht Institute with UMC, Cancer, Child Health, Genetica, Vermeulen, Carlo, Allahyar, Amin, Bouwman, Britta A M, Krijger, Peter H L, Verstegen, Marjon J A M, Geeven, Geert, Valdes-Quezada, Christian, Renkens, Ivo, Straver, Roy, Kloosterman, Wigard P, de Ridder, Jeroen, and de Laat, Wouter
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- 2020
57. Substrate requirements for let-7 function in the developing zebrafish embryo
- Author
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Kloosterman, Wigard P., Wienholds, Erno, Ketting, René F., and Plasterk, Ronald H.A.
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- 2004
58. sv-callers: a highly portable parallel workflow for structural variant detection in whole-genome sequence data
- Author
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Kuzniar, Arnold, primary, Maassen, Jason, additional, Verhoeven, Stefan, additional, Santuari, Luca, additional, Shneider, Carl, additional, Kloosterman, Wigard P., additional, and de Ridder, Jeroen, additional
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- 2020
- Full Text
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59. Confirmation of a metastasis-specific microRNA signature in primary colon cancer
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Coebergh Van Den Braak, Robert R.J., Sieuwerts, Anieta M., Lalmahomed, Zarina S., Smid, Marcel, Wilting, Saskia M., Bril, Sandra I., Xiang, Shanshan, Van Der Vlugt-Daane, Michelle, De Weerd, Vanja, Van Galen, Anne, Biermann, Katharina, Van Krieken, J. Han J.M., Kloosterman, Wigard P., Foekens, John A., Martens, John W.M., Ijzermans, Jan N.M., Coene, Peter Paul L.O., Dekker, Jan Willem T., Zimmerman, David D.E., Tetteroo, Geert W.M., Vles, Wouter J., Vrijland, Wietske W., and MATCH study group
- Subjects
General - Abstract
The identification of patients with high-risk stage II colon cancer who may benefit from adjuvant therapy may allow the clinical approach to be tailored for these patients based on an understanding of tumour biology. MicroRNAs have been proposed as markers of the prognosis or treatment response in colorectal cancer. Recently, a 2-microRNA signature (l et-7i and miR-10b) was proposed to identify colorectal cancer patients at risk of developing distant metastasis. We assessed the prognostic value of this signature and additional candidate microRNAs in an independent, clinically well-defined, prospectively collected cohort of primary colon cancer patients including stage I-II colon cancer without and stage III colon cancer with adjuvant treatment. The 2-microRNA signature specifically predicted hepatic recurrence in the stage I-II group, but not the overall ability to develop distant metastasis. The addition of miR-30b to the 2-microRNA signature allowed the prediction of both distant metastasis and hepatic recurrence in patients with stage I-II colon cancer who did not receive adjuvant chemotherapy. Available gene expression data allowed us to associate m iR-30b expression with axon guidance and l et-7i expression with cell adhesion, migration, and motility.
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- 2018
60. Patient-derived ovarian cancer organoids mimic clinical response and exhibit heterogeneous inter- and intrapatient drug responses
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de Witte, Chris J., primary, Valle-Inclan, Jose Espejo, additional, Hami, Nizar, additional, Lõhmussaar, Kadi, additional, Kopper, Oded, additional, Vreuls, Celien P.H., additional, Jonges, Trudy N., additional, van Diest, Paul, additional, Nguyen, Luan, additional, Clevers, Hans, additional, Kloosterman, Wigard P., additional, Cuppen, Edwin, additional, Snippert, Hugo J.G., additional, Zweemer, Ronald P., additional, Witteveen, Petronella O., additional, and Stelloo, Ellen, additional
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- 2019
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61. Micronuclei-based model system reveals functional consequences of chromothripsis in human cells
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Kneissig, Maja, primary, Keuper, Kristina, additional, de Pagter, Mirjam S, additional, van Roosmalen, Markus J, additional, Martin, Jana, additional, Otto, Hannah, additional, Passerini, Verena, additional, Campos Sparr, Aline, additional, Renkens, Ivo, additional, Kropveld, Fenna, additional, Vasudevan, Anand, additional, Sheltzer, Jason M, additional, Kloosterman, Wigard P, additional, and Storchova, Zuzana, additional
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- 2019
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62. Rapid identification of genomic structural variations with nanopore sequencing enables blood-based cancer monitoring
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Valle-Inclan, Jose Espejo, primary, Stangl, Christina, additional, de Jong, Anouk C., additional, van Dessel, Lisanne F., additional, van Roosmalen, Markus J., additional, Helmijr, Jean C.A., additional, Renkens, Ivo, additional, de Blank, Sam, additional, de Witte, Chris J., additional, Martens, John W.M., additional, Jansen, Maurice P.H.M., additional, Lolkema, Martijn P., additional, and Kloosterman, Wigard P., additional
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- 2019
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63. Author response: Micronuclei-based model system reveals functional consequences of chromothripsis in human cells
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Kneissig, Maja, primary, Keuper, Kristina, additional, de Pagter, Mirjam S, additional, van Roosmalen, Markus J, additional, Martin, Jana, additional, Otto, Hannah, additional, Passerini, Verena, additional, Campos Sparr, Aline, additional, Renkens, Ivo, additional, Kropveld, Fenna, additional, Vasudevan, Anand, additional, Sheltzer, Jason M, additional, Kloosterman, Wigard P, additional, and Storchova, Zuzana, additional
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- 2019
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64. Partner-independent fusion gene detection by multiplexed CRISPR/Cas9 enrichment and long-read Nanopore sequencing
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Stangl, Christina, primary, de Blank, Sam, additional, Renkens, Ivo, additional, Verbeek, Tamara, additional, Valle-Inclan, Jose Espejo, additional, González, Rocio Chamorro, additional, Henssen, Anton G., additional, van Roosmalen, Markus J., additional, Stam, Ronald W., additional, Voest, Emile E., additional, Kloosterman, Wigard P., additional, van Haaften, Gijs, additional, and Monroe, Glen, additional
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- 2019
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65. Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants
- Author
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Middelkamp, Sjors, primary, Vlaar, Judith M., additional, Giltay, Jacques, additional, Korzelius, Jerome, additional, Besselink, Nicolle, additional, Boymans, Sander, additional, Janssen, Roel, additional, de la Fonteijne, Lisanne, additional, van Binsbergen, Ellen, additional, van Roosmalen, Markus J., additional, Hochstenbach, Ron, additional, Giachino, Daniela, additional, Talkowski, Michael E., additional, Kloosterman, Wigard P., additional, and Cuppen, Edwin, additional
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- 2019
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66. Abstract 1669: Full length transcriptome sequencing of melanoma cell line complements long read sequencing assessment of genomic rearrangements
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Tseng, Elizabeth, primary, Galvin, Brendan, additional, Hon, Ting, additional, Kloosterman, Wigard P., additional, and Ashby, Meredith, additional
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- 2019
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67. Abstract 1696: Structural variant detection with long read sequencing reveals driver and passenger mutationsin a melanoma cell line
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Wenger, Aaron, primary, Nelen, Marcel, additional, Ashby, Meredith, additional, and Kloosterman, Wigard P., additional
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- 2019
- Full Text
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68. Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck
- Author
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Li, Mingkun, Rothwell, Rebecca, Vermaat, Martijn, Wachsmuth, Manja, Schröder, Roland, Laros, Jeroen F J, Van Oven, Mannis, De Bakker, Paul I W, Bovenberg, Jasper A., Van Duijn, Cornelia M., Van Ommen, Gert Jan B, Slagboom, P. Eline, Swertz, Morris A., Wijmenga, Cisca, Kayser, Manfred, Boomsma, Dorret I., Zöllner, Sebastian, De Knijff, Peter, Stoneking, Mark, 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, Ye, Kai, Lameijer, Eric Wubbo, Den Dunnen, Johan T., Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Koval, Vyacheslav, Rivadeneira, Fernando, Estrada, Karol, Hehir-Kwa, Jayne Y., De Ligt, Joep, Abdellaoui, Abdel, Hottenga, Jouke Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, Handsaker, Robert E., McCarroll, Steven A., Eichler, Evan E., Ko, Arthur, Sudmant, Peter, Francioli, Laurent C., Kloosterman, Wigard P., Nijman, Isaac J., Guryev, Victor, Genetic Identification, Epidemiology, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Biological Psychology, EMGO+ - Quality of Care, and Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep
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Male ,Netherlands Twin Register (NTR) ,0301 basic medicine ,LEVEL ,Inheritance Patterns ,Twins ,Twin Study ,POINT MUTATIONS ,Genome ,Gene Frequency ,Paternal mtDNA transmission ,Genetics(clinical) ,Non-U.S. Gov't ,Genetics (clinical) ,Netherlands ,Genetics ,Research Support, Non-U.S. Gov't ,PURIFYING SELECTION ,MITOCHONDRIAL-DNA MUTATIONS ,RANDOM GENETIC DRIFT ,HUMAN-DISEASE ,Heteroplasmy ,Female ,Mitochondrial DNA ,TISSUES ,OOCYTES ,Biology ,Research Support ,INHERITANCE ,DNA, Mitochondrial ,White People ,Genetic Heterogeneity ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Journal Article ,Humans ,Family ,Selection, Genetic ,Allele ,Allele frequency ,Alleles ,Models, Statistical ,Polymorphism, Genetic ,Models, Genetic ,Research ,Twin study ,Minor allele frequency ,030104 developmental biology ,Mutation ,MELAS SYNDROME - Abstract
Although previous studies have documented a bottleneck in the transmission of mtDNA genomes from mothers to offspring, several aspects remain unclear, including the size and nature of the bottleneck. Here, we analyze the dynamics of mtDNA heteroplasmy transmission in the Genomes of the Netherlands (GoNL) data, which consists of complete mtDNA genome sequences from 228 trios, eight dizygotic (DZ) twin quartets, and 10 monozygotic (MZ) twin quartets. Using a minor allele frequency (MAF) threshold of 2%, we identified 189 heteroplasmies in the trio mothers, of which 59% were transmitted to offspring, and 159 heteroplasmies in the trio offspring, of which 70% were inherited from the mothers. MZ twin pairs exhibited greater similarity in MAF at heteroplasmic sites than DZ twin pairs, suggesting that the heteroplasmy MAF in the oocyte is the major determinant of the heteroplasmy MAF in the offspring. We used a likelihood method to estimate the effective number of mtDNA genomes transmitted to offspring under different bottleneck models; a variable bottleneck size model provided the best fit to the data, with an estimated mean of nine individual mtDNA genomes transmitted. We also found evidence for negative selection during transmission against novel heteroplasmies (in which the minor allele has never been observed in polymorphism data). These novel heteroplasmies are enhanced for tRNA and rRNA genes, and mutations associated with mtDNA diseases frequently occur in these genes. Our results thus suggest that the female germ line is able to recognize and select against deleterious heteroplasmies.
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- 2016
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69. Integrated clinical and omics approach to rare diseases : Novel genes and oligogenic inheritance in holoprosencephaly
- Author
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Kim, Artem, Savary, Clara, Dubourg, Christèle, Carré, Wilfrid, Mouden, Charlotte, Hamdi-Rozé, Houda, Guyodo, Hélène, Douce, Jerome Le, Génin, Emmanuelle, Campion, Dominique, Dartigues, Jean François, Deleuze, Jean François, Lambert, Jean Charles, Redon, Richard, Ludwig, Thomas, Grenier-Boley, Benjamin, Letort, Sébastien, Lindenbaum, Pierre, Meyer, Vincent, Quenez, Olivier, Dina, Christian, Bellenguez, Céline, Charbonnier-Le Clézio, Camille, Giemza, Joanna, Chatel, Stéphanie, Férec, Claude, Le Marec, Hervé, Letenneur, Luc, Nicolas, Gaël, Rouault, Karen, Bacq, Delphine, Boland, Anne, Lechner, Doris, Wijmenga, Cisca, Swertz, Morris A., Eline Slagboom, P., Van Ommen, Gert Jan B., Van Duijn, Cornelia M., Boomsma, Dorret I., De Bakker, Paul I.W., 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, Sujie Cao, Jeremy, Van Dijk, Freerk, Neerincx, Pieter B.T., Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Ye, Kai, Lameijer, Eric Wubbo, Vermaat, Martijn, Laros, Jeroen F.J., Den Dunnen, Johan T., De Knijff, Peter, Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Koval, Vyacheslav, Rivadeneira, Fernando, Estrada, Karol, Hehir-Kwa, Jayne Y., De Ligt, Joep, Abdellaoui, Abdel, Hottenga, Jouke Jan, Mathijs Kattenberg, V., Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D.C., Handsaker, Robert E., McCarroll, Steven A., Eichler, Evan E., Ko, Arthur, Sudmant, Peter, Francioli, Laurent C., Kloosterman, Wigard P., Nijman, Isaac J., Guryev, Victor, Pasquier, Laurent, Flori, Elisabeth, Gonzales, Marie, Bénéteau, Claire, Boute, Odile, Attié-Bitach, Tania, Roume, Joelle, Goujon, Louise, Akloul, Linda, Odent, Sylvie, Watrin, Erwan, Dupé, Valérie, De Tayrac, Marie, David, Véronique, Kim, Artem, Savary, Clara, Dubourg, Christèle, Carré, Wilfrid, Mouden, Charlotte, Hamdi-Rozé, Houda, Guyodo, Hélène, Douce, Jerome Le, Génin, Emmanuelle, Campion, Dominique, Dartigues, Jean François, Deleuze, Jean François, Lambert, Jean Charles, Redon, Richard, Ludwig, Thomas, Grenier-Boley, Benjamin, Letort, Sébastien, Lindenbaum, Pierre, Meyer, Vincent, Quenez, Olivier, Dina, Christian, Bellenguez, Céline, Charbonnier-Le Clézio, Camille, Giemza, Joanna, Chatel, Stéphanie, Férec, Claude, Le Marec, Hervé, Letenneur, Luc, Nicolas, Gaël, Rouault, Karen, Bacq, Delphine, Boland, Anne, Lechner, Doris, Wijmenga, Cisca, Swertz, Morris A., Eline Slagboom, P., Van Ommen, Gert Jan B., Van Duijn, Cornelia M., Boomsma, Dorret I., De Bakker, Paul I.W., 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, Sujie Cao, Jeremy, Van Dijk, Freerk, Neerincx, Pieter B.T., Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Ye, Kai, Lameijer, Eric Wubbo, Vermaat, Martijn, Laros, Jeroen F.J., Den Dunnen, Johan T., De Knijff, Peter, Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Koval, Vyacheslav, Rivadeneira, Fernando, Estrada, Karol, Hehir-Kwa, Jayne Y., De Ligt, Joep, Abdellaoui, Abdel, Hottenga, Jouke Jan, Mathijs Kattenberg, V., Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D.C., Handsaker, Robert E., McCarroll, Steven A., Eichler, Evan E., Ko, Arthur, Sudmant, Peter, Francioli, Laurent C., Kloosterman, Wigard P., Nijman, Isaac J., Guryev, Victor, Pasquier, Laurent, Flori, Elisabeth, Gonzales, Marie, Bénéteau, Claire, Boute, Odile, Attié-Bitach, Tania, Roume, Joelle, Goujon, Louise, Akloul, Linda, Odent, Sylvie, Watrin, Erwan, Dupé, Valérie, De Tayrac, Marie, and David, Véronique
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- 2019
70. Integrated clinical and omics approach to rare diseases: Novel genes and oligogenic inheritance in holoprosencephaly
- Author
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CMM Groep Kaaij, Genetica Klinische Genetica, Cancer, CMM Groep De Ridder, Child Health, CMM Groep Kloosterman, CMM USEQ Facility, Hubrecht Institute with UMC, Kim, Artem, Savary, Clara, Dubourg, Christèle, Carré, Wilfrid, Mouden, Charlotte, Hamdi-Rozé, Houda, Guyodo, Hélène, Douce, Jerome Le, Génin, Emmanuelle, Campion, Dominique, Dartigues, Jean François, Deleuze, Jean François, Lambert, Jean Charles, Redon, Richard, Ludwig, Thomas, Grenier-Boley, Benjamin, Letort, Sébastien, Lindenbaum, Pierre, Meyer, Vincent, Quenez, Olivier, Dina, Christian, Bellenguez, Céline, Charbonnier-Le Clézio, Camille, Giemza, Joanna, Chatel, Stéphanie, Férec, Claude, Le Marec, Hervé, Letenneur, Luc, Nicolas, Gaël, Rouault, Karen, Bacq, Delphine, Boland, Anne, Lechner, Doris, Wijmenga, Cisca, Swertz, Morris A., Eline Slagboom, P., Van Ommen, Gert Jan B., Van Duijn, Cornelia M., Boomsma, Dorret I., De Bakker, Paul I.W., 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, Sujie Cao, Jeremy, Van Dijk, Freerk, Neerincx, Pieter B.T., Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Ye, Kai, Lameijer, Eric Wubbo, Vermaat, Martijn, Laros, Jeroen F.J., Den Dunnen, Johan T., De Knijff, Peter, Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Koval, Vyacheslav, Rivadeneira, Fernando, Estrada, Karol, Hehir-Kwa, Jayne Y., De Ligt, Joep, Abdellaoui, Abdel, Hottenga, Jouke Jan, Mathijs Kattenberg, V., Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D.C., Handsaker, Robert E., McCarroll, Steven A., Eichler, Evan E., Ko, Arthur, Sudmant, Peter, Francioli, Laurent C., Kloosterman, Wigard P., Nijman, Isaac J., Guryev, Victor, Pasquier, Laurent, Flori, Elisabeth, Gonzales, Marie, Bénéteau, Claire, Boute, Odile, Attié-Bitach, Tania, Roume, Joelle, Goujon, Louise, Akloul, Linda, Odent, Sylvie, Watrin, Erwan, Dupé, Valérie, De Tayrac, Marie, David, Véronique, CMM Groep Kaaij, Genetica Klinische Genetica, Cancer, CMM Groep De Ridder, Child Health, CMM Groep Kloosterman, CMM USEQ Facility, Hubrecht Institute with UMC, Kim, Artem, Savary, Clara, Dubourg, Christèle, Carré, Wilfrid, Mouden, Charlotte, Hamdi-Rozé, Houda, Guyodo, Hélène, Douce, Jerome Le, Génin, Emmanuelle, Campion, Dominique, Dartigues, Jean François, Deleuze, Jean François, Lambert, Jean Charles, Redon, Richard, Ludwig, Thomas, Grenier-Boley, Benjamin, Letort, Sébastien, Lindenbaum, Pierre, Meyer, Vincent, Quenez, Olivier, Dina, Christian, Bellenguez, Céline, Charbonnier-Le Clézio, Camille, Giemza, Joanna, Chatel, Stéphanie, Férec, Claude, Le Marec, Hervé, Letenneur, Luc, Nicolas, Gaël, Rouault, Karen, Bacq, Delphine, Boland, Anne, Lechner, Doris, Wijmenga, Cisca, Swertz, Morris A., Eline Slagboom, P., Van Ommen, Gert Jan B., Van Duijn, Cornelia M., Boomsma, Dorret I., De Bakker, Paul I.W., 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, Sujie Cao, Jeremy, Van Dijk, Freerk, Neerincx, Pieter B.T., Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Ye, Kai, Lameijer, Eric Wubbo, Vermaat, Martijn, Laros, Jeroen F.J., Den Dunnen, Johan T., De Knijff, Peter, Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Koval, Vyacheslav, Rivadeneira, Fernando, Estrada, Karol, Hehir-Kwa, Jayne Y., De Ligt, Joep, Abdellaoui, Abdel, Hottenga, Jouke Jan, Mathijs Kattenberg, V., Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D.C., Handsaker, Robert E., McCarroll, Steven A., Eichler, Evan E., Ko, Arthur, Sudmant, Peter, Francioli, Laurent C., Kloosterman, Wigard P., Nijman, Isaac J., Guryev, Victor, Pasquier, Laurent, Flori, Elisabeth, Gonzales, Marie, Bénéteau, Claire, Boute, Odile, Attié-Bitach, Tania, Roume, Joelle, Goujon, Louise, Akloul, Linda, Odent, Sylvie, Watrin, Erwan, Dupé, Valérie, De Tayrac, Marie, and David, Véronique
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- 2019
71. Single-Molecule Sequencing: Towards Clinical Applications
- Author
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Genetica, UMC Utrecht Academie, Child Health, Cancer, CMM Groep Kloosterman, Ameur, Adam, Kloosterman, Wigard P., Hestand, Matthew S., Genetica, UMC Utrecht Academie, Child Health, Cancer, CMM Groep Kloosterman, Ameur, Adam, Kloosterman, Wigard P., and Hestand, Matthew S.
- Published
- 2019
72. Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants
- Author
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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
73. WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene
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Nersisyan, Lilit, Nikoghosyan, Maria, Francioli, Laurent C., Menelaou, Androniki, Pulit, Sara L., Elbers, Clara C., Kloosterman, Wigard P., van Setten, Jessica, Nijman, Isaac J., Renkens, Ivo, de Bakker, Paul I. W., van Dijk, Freerk, Neerincx, Pieter B. T., Deelen, Patrick, Kanterakis, Alexandros, Dijkstra, Martijn, Byelas, Heorhiy, van der Velde, K. Joeri, Platteel, Mathieu, Swertz, Morris A., Wijmenga, Cisca, Palamara, Pier Francesco, Pe'er, Itsik, Ye, Kai, Lameijer, Eric-Wubbo, Moed, Matthijs H., Beekman, Marian, de Craen, Anton J. M., Suchiman, H. Eka D., Slagboom, P. Eline, Guryev, Victor, Abdellaoui, Abdel, Hottenga, Jouke Jan, Kattenberg, Mathijs, Willemsen, Gonneke, Boomsma, Dorret I., van Leeuwen, Elisabeth M., Karssen, Lennart C., Amin, Najaf, Rivadeneira, Fernando, Isaacs, Aaron, Hofman, Albert, Uitterlinden, Andre G., van Duijn, Cornelia M., van Oven, Mannis, Kayser, Manfred, Vermaat, Martijn, Laros, Jeroen F. J., den Dunnen, Johan T., van Enckevort, David, Mei, Hailiang, Li, Mingkun, Stoneking, Mark, van Schaik, Barbera D. C., Bot, Jan, Marschall, Tobias, Schonhuth, Alexander, Hehir-Kwa, Jayne Y., Handsaker, Robert E., Polak, Paz, Sohail, Mashaal, Vuzman, Dana, Estrada, Karol, McCarroll, Steven A., Sunyaev, Shamil R., Hormozdiari, Fereydoun, Koval, Vyacheslav, Medina-Gomez, Carolina, Oostra, Ben, Veldink, Jan H., van den Berg, Leonard H., Pitts, Steven J., Potluri, Shobha, Sundar, Purnima, Cox, David R., de Knijff, Peter, Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Wang, Jun, Li, Ning, Cao, Sujie, Bovenberg, Jasper A., van Ommen, Gert-Jan B., Arakelyan, Arsen, Nersisyan, Lilit, Nikoghosyan, Maria, Francioli, Laurent C., Menelaou, Androniki, Pulit, Sara L., Elbers, Clara C., Kloosterman, Wigard P., van Setten, Jessica, Nijman, Isaac J., Renkens, Ivo, de Bakker, Paul I. W., van Dijk, Freerk, Neerincx, Pieter B. T., Deelen, Patrick, Kanterakis, Alexandros, Dijkstra, Martijn, Byelas, Heorhiy, van der Velde, K. Joeri, Platteel, Mathieu, Swertz, Morris A., Wijmenga, Cisca, Palamara, Pier Francesco, Pe'er, Itsik, Ye, Kai, Lameijer, Eric-Wubbo, Moed, Matthijs H., Beekman, Marian, de Craen, Anton J. M., Suchiman, H. Eka D., Slagboom, P. Eline, Guryev, Victor, Abdellaoui, Abdel, Hottenga, Jouke Jan, Kattenberg, Mathijs, Willemsen, Gonneke, Boomsma, Dorret I., van Leeuwen, Elisabeth M., Karssen, Lennart C., Amin, Najaf, Rivadeneira, Fernando, Isaacs, Aaron, Hofman, Albert, Uitterlinden, Andre G., van Duijn, Cornelia M., van Oven, Mannis, Kayser, Manfred, Vermaat, Martijn, Laros, Jeroen F. J., den Dunnen, Johan T., van Enckevort, David, Mei, Hailiang, Li, Mingkun, Stoneking, Mark, van Schaik, Barbera D. C., Bot, Jan, Marschall, Tobias, Schonhuth, Alexander, Hehir-Kwa, Jayne Y., Handsaker, Robert E., Polak, Paz, Sohail, Mashaal, Vuzman, Dana, Estrada, Karol, McCarroll, Steven A., Sunyaev, Shamil R., Hormozdiari, Fereydoun, Koval, Vyacheslav, Medina-Gomez, Carolina, Oostra, Ben, Veldink, Jan H., van den Berg, Leonard H., Pitts, Steven J., Potluri, Shobha, Sundar, Purnima, Cox, David R., de Knijff, Peter, Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Wang, Jun, Li, Ning, Cao, Sujie, Bovenberg, Jasper A., van Ommen, Gert-Jan B., and Arakelyan, Arsen
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- 2019
74. Locus-Specific Enhancer Hubs And Architectural Loop Collisions Uncovered From Single Allele DNA Topologies
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Allahyar, Amin, Vermeulen, Carlo, Bouwman, Britta A.M., Krijger, Peter H.L., Verstegen, Marjon J.A.M., Geeven, Geert, Kranenburg, Melissa van, Pieterse, Mark, Straver, Roy, Haarhuis, Judith H.I., Teunissen, Hans, Renkens, Ivo J., Kloosterman, Wigard P., Rowland, Benjamin D., de Wit, Elzo, de Ridder, Jeroen, and de Laat, Wouter
- Abstract
Chromatin folding is increasingly recognized as a regulator of genomic processes such as gene activity. Chromosome conformation capture (3C) methods have been developed to unravel genome topology through the analysis of pair-wise chromatin contacts and have identified many genes and regulatory sequences that, in populations of cells, are engaged in multiple DNA interactions. However, pair-wise methods cannot discern whether contacts occur simultaneously or in competition on the individual chromosome. We present a novel 3C method, Multi-Contact 4C (MC-4C), that applies Nanopore sequencing to study multi-way DNA conformations of tens of thousands individual alleles for distinction between cooperative, random and competing interactions. MC-4C can uncover previously missed structures in sub-populations of cells. It reveals unanticipated cooperative clustering between regulatory chromatin loops, anchored by enhancers and gene promoters, and CTCF and cohesin-bound architectural loops. For example, we show that the constituents of the active b-globin super-enhancer cooperatively form an enhancer hub that can host two genes at a time. We also find cooperative interactions between further dispersed regulatory sequences of the active proto-cadherin locus. When applied to CTCF-bound domain boundaries, we find evidence that chromatin loops can collide, a process that is negatively regulated by the cohesin release factor WAPL. Loop collision is further pronounced in WAPL knockout cells, suggestive of a “cohesin traffic jam”. In summary, single molecule multi-contact analysis methods can reveal how the myriad of regulatory sequences spatially coordinate their actions on individual chromosomes. Insight into these single allele higher-order topological features will facilitate interpreting the consequences of natural and induced genetic variation and help uncovering the mechanisms shaping our genome.
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- 2017
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75. From squiggle to basepair: computational approaches for improving nanopore sequencing read accuracy
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Rang, Franka J., primary, Kloosterman, Wigard P., additional, and de Ridder, Jeroen, additional
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- 2018
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76. No evidence that mate choice in humans is dependent on the MHC
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Cretu-Stancu, Mircea, primary, Kloosterman, Wigard P., additional, and Pulit, Sara L., additional
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- 2018
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77. Enhancer hubs and loop collisions identified from single-allele topologies
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CMM Groep De Ridder, Cancer, Hubrecht Institute with UMC, CMM Groep Kloosterman, Child Health, Divisie Biomedische Genetica, Allahyar, Amin, Vermeulen, Carlo, Bouwman, Britta A M, Krijger, Peter H L, Verstegen, Marjon J A M, Geeven, Geert, van Kranenburg, Melissa, Pieterse, Mark, Straver, Roy, Haarhuis, Judith H I, Jalink, Kees, Teunissen, Hans, Renkens, Ivo J, Kloosterman, Wigard P, Rowland, Benjamin D, de Wit, Elzo, de Ridder, Jeroen, de Laat, Wouter, CMM Groep De Ridder, Cancer, Hubrecht Institute with UMC, CMM Groep Kloosterman, Child Health, Divisie Biomedische Genetica, Allahyar, Amin, Vermeulen, Carlo, Bouwman, Britta A M, Krijger, Peter H L, Verstegen, Marjon J A M, Geeven, Geert, van Kranenburg, Melissa, Pieterse, Mark, Straver, Roy, Haarhuis, Judith H I, Jalink, Kees, Teunissen, Hans, Renkens, Ivo J, Kloosterman, Wigard P, Rowland, Benjamin D, de Wit, Elzo, de Ridder, Jeroen, and de Laat, Wouter
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- 2018
78. Confirmation of a metastasis-specific microRNA signature in primary colon cancer
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Genetica, CMM Groep Kloosterman, Child Health, Cancer, Coebergh Van Den Braak, Robert R.J., Sieuwerts, Anieta M., Lalmahomed, Zarina S., Smid, Marcel, Wilting, Saskia M., Bril, Sandra I., Xiang, Shanshan, Van Der Vlugt-Daane, Michelle, De Weerd, Vanja, Van Galen, Anne, Biermann, Katharina, Van Krieken, J. Han J.M., Kloosterman, Wigard P., Foekens, John A., Martens, John W.M., Ijzermans, Jan N.M., Coene, Peter Paul L.O., Dekker, Jan Willem T., Zimmerman, David D.E., Tetteroo, Geert W.M., Vles, Wouter J., Vrijland, Wietske W., MATCH study group, Genetica, CMM Groep Kloosterman, Child Health, Cancer, Coebergh Van Den Braak, Robert R.J., Sieuwerts, Anieta M., Lalmahomed, Zarina S., Smid, Marcel, Wilting, Saskia M., Bril, Sandra I., Xiang, Shanshan, Van Der Vlugt-Daane, Michelle, De Weerd, Vanja, Van Galen, Anne, Biermann, Katharina, Van Krieken, J. Han J.M., Kloosterman, Wigard P., Foekens, John A., Martens, John W.M., Ijzermans, Jan N.M., Coene, Peter Paul L.O., Dekker, Jan Willem T., Zimmerman, David D.E., Tetteroo, Geert W.M., Vles, Wouter J., Vrijland, Wietske W., and MATCH study group
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- 2018
79. Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring
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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.
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- 2015
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80. Mapping and phasing of structural variation in patient genomes using nanopore sequencing
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Cretu Stancu, Mircea, primary, van Roosmalen, Markus J., additional, Renkens, Ivo, additional, Nieboer, Marleen M., additional, Middelkamp, Sjors, additional, de Ligt, Joep, additional, Pregno, Giulia, additional, Giachino, Daniela, additional, Mandrile, Giorgia, additional, Espejo Valle-Inclan, Jose, additional, Korzelius, Jerome, additional, de Bruijn, Ewart, additional, Cuppen, Edwin, additional, Talkowski, Michael E., additional, Marschall, Tobias, additional, de Ridder, Jeroen, additional, and Kloosterman, Wigard P., additional
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- 2017
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81. Locus-Specific Enhancer Hubs And Architectural Loop Collisions Uncovered From Single Allele DNA Topologies
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Allahyar, Amin, primary, Vermeulen, Carlo, additional, Bouwman, Britta A.M., additional, Krijger, Peter H.L., additional, Verstegen, Marjon J.A.M., additional, Geeven, Geert, additional, Kranenburg, Melissa van, additional, Pieterse, Mark, additional, Straver, Roy, additional, Haarhuis, Judith H.I., additional, Teunissen, Hans, additional, Renkens, Ivo J., additional, Kloosterman, Wigard P., additional, Rowland, Benjamin D., additional, de Wit, Elzo, additional, de Ridder, Jeroen, additional, and de Laat, Wouter, additional
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- 2017
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82. A Systematic Analysis of Oncogenic Gene Fusions in Primary Colon Cancer
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Kloosterman, Wigard P., primary, Coebergh van den Braak, Robert R.J., additional, Pieterse, Mark, additional, van Roosmalen, Markus J., additional, Sieuwerts, Anieta M., additional, Stangl, Christina, additional, Brunekreef, Ronne, additional, Lalmahomed, Zarina S., additional, Ooft, Salo, additional, van Galen, Anne, additional, Smid, Marcel, additional, Lefebvre, Armel, additional, Zwartkruis, Fried, additional, Martens, John W.M., additional, Foekens, John A., additional, Biermann, Katharina, additional, Koudijs, Marco J., additional, Ijzermans, Jan N.M., additional, and Voest, Emile E., additional
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- 2017
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83. Abstract 490: Identification of oncogenic gene fusions in primary colon cancers
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Braak, Robert R. Coebergh van den, primary, Kloosterman, Wigard P., additional, Pieterse, Mark, additional, Roosmalen, Markus van, additional, Sieuwerts, Anieta M., additional, Stangl, Christina, additional, Brunekreef, Ronne, additional, Lalmahomed, Zarina S., additional, Ooft, Salo, additional, Galen, Anne van, additional, Smid, Marcel, additional, Lefebvre, Armel, additional, Zwartkruis, Fried J., additional, Martens, John W., additional, Foekens, John A., additional, Biermann, Katharina, additional, Koudijs, Marco J., additional, IJzermans, Jan N., additional, and Voest, Emile E., additional
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- 2017
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84. Mapping and phasing of structural variation in patient genomes using nanopore sequencing
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Stancu, Mircea Cretu, primary, van Roosmalen, Markus J., additional, Renkens, Ivo, additional, Nieboer, Marleen, additional, Middelkamp, Sjors, additional, Ligt, Joep de, additional, Pregno, Giulia, additional, Giachino, Daniela, additional, Mandrile, Giorgia, additional, Valle-Inclan, Jose Espejo, additional, Korzelius, Jerome, additional, Bruijn, Ewart de, additional, Cuppen, Edwin, additional, Talkowski, Michael E., additional, Marschall, Tobias, additional, Ridder, Jeroen de, additional, and Kloosterman, Wigard P., additional
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- 2017
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85. Characteristics of de novo structural changes in the human genome
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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., Adult Psychiatry, Epidemiology and Data Science, ACS - Amsterdam Cardiovascular Sciences, AII - Amsterdam institute for Infection and Immunity, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ANS - Amsterdam Neuroscience, CCA -Cancer Center Amsterdam, Biological Psychology, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, Internal Medicine, Epidemiology, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL), and Groningen Research Institute for Asthma and COPD (GRIAC)
- Subjects
Male ,Netherlands Twin Register (NTR) ,Mutation rate ,INTELLECTUAL DISABILITY ,Retrotransposon ,Genome of Netherlands Consortium ,VARIANTS ,Medical and Health Sciences ,Genome ,0302 clinical medicine ,INDEL Mutation ,Mutation Rate ,Genetics(clinical) ,Copy-number variation ,Genetics (clinical) ,Genetics ,0303 health sciences ,education.field_of_study ,food and beverages ,Genomics ,Single Nucleotide ,Biological Sciences ,Female ,Sequence Analysis ,Human ,Retroelements ,SEQUENCING DATA ,Bioinformatics ,Molecular Sequence Data ,Population ,MUTATION-RATES ,POPULATION-SCALE ,Biology ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Humans ,Amino Acid Sequence ,Polymorphism ,Indel ,education ,Alleles ,030304 developmental biology ,COPY NUMBER VARIATION ,INDIVIDUAL HUMAN ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,IDENTIFICATION ,Genome, Human ,Research ,Human Genome ,Genetic Variation ,Sequence Analysis, DNA ,DNA ,GENE ,Haplotypes ,DISCOVERY ,Human genome ,Sequence Alignment ,030217 neurology & neurosurgery - Abstract
Contains fulltext : 154750.pdf (Publisher’s version ) (Open Access) Small insertions and deletions (indels) and large structural variations (SVs) are major contributors to human genetic diversity and disease. However, mutation rates and characteristics of de novo indels and SVs in the general population have remained largely unexplored. We report 332 validated de novo structural changes identified in whole genomes of 250 families, including complex indels, retrotransposon insertions, and interchromosomal events. These data indicate a mutation rate of 2.94 indels (1-20 bp) and 0.16 SVs (>20 bp) per generation. De novo structural changes affect on average 4.1 kbp of genomic sequence and 29 coding bases per generation, which is 91 and 52 times more nucleotides than de novo substitutions, respectively. This contrasts with the equal genomic footprint of inherited SVs and substitutions. An excess of structural changes originated on paternal haplotypes. Additionally, we observed a nonuniform distribution of de novo SVs across offspring. These results reveal the importance of different mutational mechanisms to changes in human genome structure across generations. 01 juni 2015
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- 2015
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86. Mapping and phasing of structural variation in patient genomes using nanopore sequencing
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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
87. Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells
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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
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- 2017
88. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
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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
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- 2017
89. Mapping and phasing of structural variation in patient genomes using nanopore sequencing
- Author
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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
90. Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease
- Author
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Stoma/continentiezorg, MDL onderzoek 1, Child Health, Onderzoek Precision medicine, Cancer, CMM Groep Coffer, Infection & Immunity, Immuno/reuma patientenzorg, Metabole ziekten patientenzorg, Cluster C, CTI Vastert, Genetica Klinische Genetica, Genetica Medische Informatica, CMM Groep Kloosterman, Zorg en O&O, Regenerative Medicine and Stem Cells, CMM Groep Cuppen, Circulatory Health, Brain, MDL patientenzorg, Immunologie onderzoek 2, CMM Sectie Stem Cells, Van Haaften-Visser, Désirée Y., Harakalova, Magdalena, Mocholi, Enric, Van Montfrans, Joris M., Elkadri, Abdul, Rieter, Ester, Fiedler, Karoline, Van Hasselt, Peter M., Triffaux, Emily M.M., Van Haelst, Mieke M., Nijman, Isaac J., Kloosterman, Wigard P., Nieuwenhuis, Edward E S, Muise, Aleixo M., Cuppen, Edwin, Houwen, Roderick H.J., Coffer, Paul J., Stoma/continentiezorg, MDL onderzoek 1, Child Health, Onderzoek Precision medicine, Cancer, CMM Groep Coffer, Infection & Immunity, Immuno/reuma patientenzorg, Metabole ziekten patientenzorg, Cluster C, CTI Vastert, Genetica Klinische Genetica, Genetica Medische Informatica, CMM Groep Kloosterman, Zorg en O&O, Regenerative Medicine and Stem Cells, CMM Groep Cuppen, Circulatory Health, Brain, MDL patientenzorg, Immunologie onderzoek 2, CMM Sectie Stem Cells, Van Haaften-Visser, Désirée Y., Harakalova, Magdalena, Mocholi, Enric, Van Montfrans, Joris M., Elkadri, Abdul, Rieter, Ester, Fiedler, Karoline, Van Hasselt, Peter M., Triffaux, Emily M.M., Van Haelst, Mieke M., Nijman, Isaac J., Kloosterman, Wigard P., Nieuwenhuis, Edward E S, Muise, Aleixo M., Cuppen, Edwin, Houwen, Roderick H.J., and Coffer, Paul J.
- Published
- 2017
91. Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells
- Author
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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
92. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- Author
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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
93. Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements
- Author
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van Heesch, Sebastiaan, Simonis, Marieke, van Roosmalen, Markus J., Pillalamarri, Vamsee, Brand, Harrison, Kuijk, Ewart W., de Luca, Kim L., Lansu, Nico, Braat, A. Koen, Menelaou, Androniki, Hao, Wensi, Korving, Jeroen, Snijder, Simone, van der Veken, Lars T., Hochstenbach, Ron, Knegt, Alida C., Duran, Karen, Renkens, Ivo, Alekozai, Najla, Jager, Myrthe, Vergult, Sarah, Menten, Björn, de Bruijn, Ewart, Boymans, Sander, Ippel, Elly, van Binsbergen, Ellen, Talkowski, Michael E., Lichtenbelt, Klaske, Cuppen, Edwin, and Kloosterman, Wigard P.
- Published
- 2014
- Full Text
- View/download PDF
94. Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells
- Author
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Middelkamp, Sjors, primary, van Heesch, Sebastiaan, additional, Braat, A. Koen, additional, de Ligt, Joep, additional, van Iterson, Maarten, additional, Simonis, Marieke, additional, van Roosmalen, Markus J., additional, Kelder, Martijn J. E., additional, Kruisselbrink, Evelien, additional, Hochstenbach, Ron, additional, Verbeek, Nienke E., additional, Ippel, Elly F., additional, Adolfs, Youri, additional, Pasterkamp, R. Jeroen, additional, Kloosterman, Wigard P., additional, Kuijk, Ewart W., additional, and Cuppen, Edwin, additional
- Published
- 2017
- Full Text
- View/download PDF
95. A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
- Author
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Hehir-Kwa, Jayne Y., Marschall, Tobias, Kloosterman, Wigard P., Francioli, Laurent C., Baaijens, Jasmijn A., Dijkstra, Louis J., Abdellaoui, Abdel, Koval, Vyacheslav, Thung, Djie Tjwan, Wardenaar, René, Renkens, Ivo, Coe, Bradley P., Deelen, Patrick, De Ligt, Joep, Lameijer, Eric Wubbo, Van Dijk, Freerk, Hormozdiari, Fereydoun, Uitterlinden, André G., Van Duijn, Cornelia M., Eichler, Evan E., De Bakker, Paul I.W., Swertz, Morris A., Wijmenga, Cisca, Van Ommen, Gert Jan B, Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, 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, Neerincx, Pieter B T, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen F., den Dunnen, Johan T., De Knijff, Peter, Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, Hottenga, Jouke-Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, Handsaker, Robert E., McCarroll, Steven A., Ko, Arthur, Sudmant, Peter, Nijman, Isaac J., Hehir-Kwa, Jayne Y., Marschall, Tobias, Kloosterman, Wigard P., Francioli, Laurent C., Baaijens, Jasmijn A., Dijkstra, Louis J., Abdellaoui, Abdel, Koval, Vyacheslav, Thung, Djie Tjwan, Wardenaar, René, Renkens, Ivo, Coe, Bradley P., Deelen, Patrick, De Ligt, Joep, Lameijer, Eric Wubbo, Van Dijk, Freerk, Hormozdiari, Fereydoun, Uitterlinden, André G., Van Duijn, Cornelia M., Eichler, Evan E., De Bakker, Paul I.W., Swertz, Morris A., Wijmenga, Cisca, Van Ommen, Gert Jan B, Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, 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, Neerincx, Pieter B T, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen F., den Dunnen, Johan T., De Knijff, Peter, Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, Hottenga, Jouke-Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, Handsaker, Robert E., McCarroll, Steven A., Ko, Arthur, Sudmant, Peter, and Nijman, Isaac J.
- Published
- 2016
96. A framework for the detection of de novo mutations in family-based sequencing data
- Author
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Francioli, Laurent C., Cretu-Stancu, Mircea, Garimella, Kiran V., Fromer, Menachem, Kloosterman, Wigard P., Samocha, Kaitlin E., Neale, Benjamin M., Daly, Mark J., Banks, Eric, DePristo, Mark A., de Bakker, Paul IW, Francioli, Laurent C., Cretu-Stancu, Mircea, Garimella, Kiran V., Fromer, Menachem, Kloosterman, Wigard P., Samocha, Kaitlin E., Neale, Benjamin M., Daly, Mark J., Banks, Eric, DePristo, Mark A., and de Bakker, Paul IW
- Published
- 2016
97. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease
- Author
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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
98. The presence of extra chromosomes leads to genomic instability
- Author
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Passerini, Verena, Ozeri-Galai, Efrat, De Pagter, Mirjam S., Donnelly, Neysan, Schmalbrock, Sarah, Kloosterman, Wigard P., Kerem, Batsheva, Storchová, Zuzana, Passerini, Verena, Ozeri-Galai, Efrat, De Pagter, Mirjam S., Donnelly, Neysan, Schmalbrock, Sarah, Kloosterman, Wigard P., Kerem, Batsheva, and Storchová, Zuzana
- Published
- 2016
99. Metabolic Engineering toward Sustainable Production of Nylon-6
- Author
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Turk, Stefan C H J, Kloosterman, Wigard P., Ninaber, Dennis K., Kolen, Karin P A M, Knutova, Julia, Suir, Erwin, Schürmann, Martin, Raemakers-Franken, Petronella C., Müller, Monika, De Wildeman, Stefaan M A, Raamsdonk, Leonie M., Van Der Pol, Ruud, Wu, Liang, Temudo, Margarida F., Van Der Hoeven, Rob A M, Akeroyd, Michiel, Van Der Stoel, Roland E., Noorman, Henk J., Bovenberg, Roel A L, Trefzer, Axel C., Turk, Stefan C H J, Kloosterman, Wigard P., Ninaber, Dennis K., Kolen, Karin P A M, Knutova, Julia, Suir, Erwin, Schürmann, Martin, Raemakers-Franken, Petronella C., Müller, Monika, De Wildeman, Stefaan M A, Raamsdonk, Leonie M., Van Der Pol, Ruud, Wu, Liang, Temudo, Margarida F., Van Der Hoeven, Rob A M, Akeroyd, Michiel, Van Der Stoel, Roland E., Noorman, Henk J., Bovenberg, Roel A L, and Trefzer, Axel C.
- Published
- 2016
100. The genomic characteristics and cellular origin of chromothripsis
- Author
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Genetica, CMM Groep Kloosterman, Child Health, Cancer, Storchová, Zuzana, Kloosterman, Wigard P., Genetica, CMM Groep Kloosterman, Child Health, Cancer, Storchová, Zuzana, and Kloosterman, Wigard P.
- Published
- 2016
Catalog
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