6 results on '"Kloosterman, Wigard P."'
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2. Enhancer hubs and loop collisions identified from single-allele topologies
- Author
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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
- Published
- 2018
- Full Text
- View/download PDF
3. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- Author
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Redin, Claire, primary, Brand, Harrison, additional, Collins, Ryan L, additional, Kammin, Tammy, additional, Mitchell, Elyse, additional, Hodge, Jennelle C, additional, Hanscom, Carrie, additional, Pillalamarri, Vamsee, additional, Seabra, Catarina M, additional, Abbott, Mary-Alice, additional, Abdul-Rahman, Omar A, additional, Aberg, Erika, additional, Adley, Rhett, additional, Alcaraz-Estrada, Sofia L, additional, Alkuraya, Fowzan S, additional, An, Yu, additional, Anderson, Mary-Anne, additional, Antolik, Caroline, additional, Anyane-Yeboa, Kwame, additional, Atkin, Joan F, additional, Bartell, Tina, additional, Bernstein, Jonathan A, additional, Beyer, Elizabeth, additional, Blumenthal, Ian, additional, Bongers, Ernie M H F, additional, Brilstra, Eva H, additional, Brown, Chester W, additional, Brüggenwirth, Hennie T, additional, Callewaert, Bert, additional, Chiang, Colby, additional, Corning, Ken, additional, Cox, Helen, additional, Cuppen, Edwin, additional, Currall, Benjamin B, additional, Cushing, Tom, additional, David, Dezso, additional, Deardorff, Matthew A, additional, Dheedene, Annelies, additional, D'Hooghe, Marc, additional, de Vries, Bert B A, additional, Earl, Dawn L, additional, Ferguson, Heather L, additional, Fisher, Heather, additional, FitzPatrick, David R, additional, Gerrol, Pamela, additional, Giachino, Daniela, additional, Glessner, Joseph T, additional, Gliem, Troy, additional, Grady, Margo, additional, Graham, Brett H, additional, Griffis, Cristin, additional, Gripp, Karen W, additional, Gropman, Andrea L, additional, Hanson-Kahn, Andrea, additional, Harris, David J, additional, Hayden, Mark A, additional, Hill, Rosamund, additional, Hochstenbach, Ron, additional, Hoffman, Jodi D, additional, Hopkin, Robert J, additional, Hubshman, Monika W, additional, Innes, A Micheil, additional, Irons, Mira, additional, Irving, Melita, additional, Jacobsen, Jessie C, additional, Janssens, Sandra, additional, Jewett, Tamison, additional, Johnson, John P, additional, Jongmans, Marjolijn C, additional, Kahler, Stephen G, additional, Koolen, David A, additional, Korzelius, Jerome, additional, Kroisel, Peter M, additional, Lacassie, Yves, additional, Lawless, William, additional, Lemyre, Emmanuelle, additional, Leppig, Kathleen, additional, Levin, Alex V, additional, Li, Haibo, additional, Li, Hong, additional, Liao, Eric C, additional, Lim, Cynthia, additional, Lose, Edward J, additional, Lucente, Diane, additional, Macera, Michael J, additional, Manavalan, Poornima, additional, Mandrile, Giorgia, additional, Marcelis, Carlo L, additional, Margolin, Lauren, additional, Mason, Tamara, additional, Masser-Frye, Diane, additional, McClellan, Michael W, additional, Mendoza, Cinthya J Zepeda, additional, Menten, Björn, additional, Middelkamp, Sjors, additional, Mikami, Liya R, additional, Moe, Emily, additional, Mohammed, Shehla, additional, Mononen, Tarja, additional, Mortenson, Megan E, additional, Moya, Graciela, additional, Nieuwint, Aggie W, additional, Ordulu, Zehra, additional, Parkash, Sandhya, additional, Pauker, Susan P, additional, Pereira, Shahrin, additional, Perrin, Danielle, additional, Phelan, Katy, additional, Aguilar, Raul E Piña, additional, Poddighe, Pino J, additional, Pregno, Giulia, additional, Raskin, Salmo, additional, Reis, Linda, additional, Rhead, William, additional, Rita, Debra, additional, Renkens, Ivo, additional, Roelens, Filip, additional, Ruliera, Jayla, additional, Rump, Patrick, additional, Schilit, Samantha L P, additional, Shaheen, Ranad, additional, Sparkes, Rebecca, additional, Spiegel, Erica, additional, Stevens, Blair, additional, Stone, Matthew R, additional, Tagoe, Julia, additional, Thakuria, Joseph V, additional, van Bon, Bregje W, additional, van de Kamp, Jiddeke, additional, van Der Burgt, Ineke, additional, van Essen, Ton, additional, van Ravenswaaij-Arts, Conny M, additional, van Roosmalen, Markus J, additional, Vergult, Sarah, additional, Volker-Touw, Catharina M L, additional, Warburton, Dorothy P, additional, Waterman, Matthew J, additional, Wiley, Susan, additional, Wilson, Anna, additional, Yerena-de Vega, Maria de la Concepcion A, additional, Zori, Roberto T, additional, Levy, Brynn, additional, Brunner, Han G, additional, de Leeuw, Nicole, additional, Kloosterman, Wigard P, additional, Thorland, Erik C, additional, Morton, Cynthia C, additional, Gusella, James F, additional, and Talkowski, Michael E, additional
- Published
- 2016
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- View/download PDF
4. Dominant missense mutations in ABCC9 cause Cantú syndrome
- Author
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Harakalova, Magdalena, primary, van Harssel, Jeske J T, additional, Terhal, Paulien A, additional, van Lieshout, Stef, additional, Duran, Karen, additional, Renkens, Ivo, additional, Amor, David J, additional, Wilson, Louise C, additional, Kirk, Edwin P, additional, Turner, Claire L S, additional, Shears, Debbie, additional, Garcia-Minaur, Sixto, additional, Lees, Melissa M, additional, Ross, Alison, additional, Venselaar, Hanka, additional, Vriend, Gert, additional, Takanari, Hiroki, additional, Rook, Martin B, additional, van der Heyden, Marcel A G, additional, Asselbergs, Folkert W, additional, Breur, Hans M, additional, Swinkels, Marielle E, additional, Scurr, Ingrid J, additional, Smithson, Sarah F, additional, Knoers, Nine V, additional, van der Smagt, Jasper J, additional, Nijman, Isaac J, additional, Kloosterman, Wigard P, additional, van Haelst, Mieke M, additional, van Haaften, Gijs, additional, and Cuppen, Edwin, additional
- Published
- 2012
- Full Text
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5. Genome-wide patterns and properties of de novo mutations in humans.
- Author
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Francioli, Laurent C, Menelaou, Androniki, Renkens, Ivo, Kloosterman, Wigard P, Guryev, Victor, Arndt, Peter F, de Bakker, Paul I W, Polak, Paz P, Chun, Sung, Sunyaev, Shamil R, Koren, Amnon, van Duijn, Cornelia M, Swertz, Morris, Wijmenga, Cisca, van Ommen, Gertjan, Slagboom, P Eline, Boomsma, Dorret I, and Ye, Kai
- Subjects
MUTAGENESIS ,GENETIC disorders in children ,DNA mutational analysis ,GENETIC mutation measurement ,NUCLEOTIDES ,HETEROGENEITY - Abstract
Mutations create variation in the population, fuel evolution and cause genetic diseases. Current knowledge about de novo mutations is incomplete and mostly indirect. Here we analyze 11,020 de novo mutations from the whole genomes of 250 families. We show that de novo mutations in the offspring of older fathers are not only more numerous but also occur more frequently in early-replicating, genic regions. Functional regions exhibit higher mutation rates due to CpG dinucleotides and show signatures of transcription-coupled repair, whereas mutation clusters with a unique signature point to a new mutational mechanism. Mutation and recombination rates independently associate with nucleotide diversity, and regional variation in human-chimpanzee divergence is only partly explained by heterogeneity in mutation rate. Finally, we provide a genome-wide mutation rate map for medical and population genetics applications. Our results provide new insights and refine long-standing hypotheses about human mutagenesis. [ABSTRACT FROM AUTHOR]
- Published
- 2015
- Full Text
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6. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- Author
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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, and Talkowski, Michael E
- Abstract
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. We propose that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology.
- Published
- 2017
- Full Text
- View/download PDF
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