Homologous and non-homologous recombination differentially affect DNA damage repair in mice

Por Essers, Jeroen, van Steeg, Harry, de Wit, Jan, Swagemakers, Sigrid M.A., Vermeij, Marcel, Hoeijmakers, Jan H.J., Kanaar, Roland
Publicado em 2000

Maternal diabetes causes developmental delay and death in early-somite mouse embryos

Por Zhao, Jing, Hakvoort, Theodorus B. M., Ruijter, Jan M., Jongejan, Aldo, Koster, Jan, Swagemakers, Sigrid M. A., Sokolovic, Aleksandar, Lamers, Wouter H.
Publicado no Sci Rep (2017)

The Rad51 Paralog Rad51B Promotes Homologous Recombinational Repair

Por Takata, Minoru, Sasaki, Masao S., Sonoda, Eiichiro, Fukushima, Toru, Morrison, Ciaran, Albala, Joanna S., Swagemakers, Sigrid M. A., Kanaar, Roland, Thompson, Larry H., Takeda, Shunichi
Publicado em 2000

Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome

Por Visser, W. Edward, Swagemakers, Sigrid M.A., Őzgűr, Zeliha, Schot, Rachel, Verheijen, Frans W., van Ijcken, Wilfred F.J., van der Spek, Peter J., Visser, Theo J.
Publicado em 2010

A New Strategy to Identify and Annotate Human RPE-Specific Gene Expression

Por Booij, Judith C., ten Brink, Jacoline B., Swagemakers, Sigrid M. A., Verkerk, Annemieke J. M. H., Essing, Anke H. W., van der Spek, Peter J., Bergen, Arthur A. B.
Publicado em 2010

Pollitt syndrome patients carry mutation in TTDN1

Por Swagemakers, Sigrid M.A., Jaspers, Nicolaas G.J., Raams, Anja, Heijsman, Daphne, Vermeulen, Wim, Troelstra, Christine, Kremer, Andreas, Lincoln, Stephen E., Tearle, Rick, Hoeijmakers, Jan H.J., van der Spek, Peter J.
Publicado no Meta Gene (2014)

Impaired Vascular Contractility and Aortic Wall Degeneration in Fibulin-4 Deficient Mice: Effect of Angiotensin II Type 1 (AT(1)) Receptor Blockade

Por Moltzer, Els, te Riet, Luuk, Swagemakers, Sigrid M. A., van Heijningen, Paula M., Vermeij, Marcel, van Veghel, Richard, Bouhuizen, Angelique M., van Esch, Joep H. M., Lankhorst, Stephanie, Ramnath, Natasja W. M., de Waard, Monique C., Duncker, Dirk J., van der Spek, Peter J., Rouwet, Ellen V., Danser, A. H. Jan, Essers, Jeroen
Publicado em 2011

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12‐Related Craniosynostosis

Por Goos, Jacqueline A.C., Fenwick, Aimee L., Swagemakers, Sigrid M.A., McGowan, Simon J., Knight, Samantha J.L., Twigg, Stephen R.F., Hoogeboom, A. Jeannette M., van Dooren, Marieke F., Magielsen, Frank J., Wall, Steven A., Mathijssen, Irene M.J., Wilkie, Andrew O.M., van der Spek, Peter J., van den Ouweland, Ans M.W.
Publicado no Hum Mutat (2016)

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

Por Twigg, Stephen R.F., Forecki, Jennifer, Goos, Jacqueline A.C., Richardson, Ivy C.A., Hoogeboom, A. Jeannette M., van den Ouweland, Ans M.W., Swagemakers, Sigrid M.A., Lequin, Maarten H., Van Antwerp, Daniel, McGowan, Simon J., Westbury, Isabelle, Miller, Kerry A., Wall, Steven A., van der Spek, Peter J., Mathijssen, Irene M.J., Pauws, Erwin, Merzdorf, Christa S., Wilkie, Andrew O.M.
Publicado no Am J Hum Genet (2015)

Extracellular Matrix Defects in Aneurysmal Fibulin-4 Mice Predispose to Lung Emphysema

Por Ramnath, Natasja W. M., van de Luijtgaarden, Koen M., van der Pluijm, Ingrid, van Nimwegen, Menno, van Heijningen, Paula M., Swagemakers, Sigrid M. A., van Thiel, Bibi S., Ridwan, Ruziedi Y., van Vliet, Nicole, Vermeij, Marcel, Hawinkels, Luuk J. A. C., de Munck, Anne, Dzyubachyk, Oleh, Meijering, Erik, van der Spek, Peter, Rottier, Robbert, Yanagisawa, Hiromi, Hendriks, Rudi W., Kanaar, Roland, Rouwet, Ellen V., Kleinjan, Alex, Essers, Jeroen
Publicado em 2014

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

Por Goos, Jacqueline A C, Swagemakers, Sigrid M A, Twigg, Stephen R F, van Dooren, Marieke F, Hoogeboom, A Jeannette M, Beetz, Christian, Günther, Sven, Magielsen, Frank J, Ockeloen, Charlotte W, A Ramos-Arroyo, Maria, Pfundt, Rolph, Yntema, Helger G, van der Spek, Peter J, Stanier, Philip, Wieczorek, Dagmar, Wilkie, Andrew O M, van den Ouweland, Ans M W, Mathijssen, Irene M J, Hurst, Jane A
Publicado no Eur J Hum Genet (2017)

Diagnostic value of exome and whole genome sequencing in craniosynostosis

Por Miller, Kerry A, Twigg, Stephen R F, McGowan, Simon J, Phipps, Julie M, Fenwick, Aimée L, Johnson, David, Wall, Steven A, Noons, Peter, Rees, Katie E M, Tidey, Elizabeth A, Craft, Judith, Taylor, John, Taylor, Jenny C, Goos, Jacqueline A C, Swagemakers, Sigrid M A, Mathijssen, Irene M J, van der Spek, Peter J, Lord, Helen, Lester, Tracy, Abid, Noina, Cilliers, Deirdre, Hurst, Jane A, Morton, Jenny E V, Sweeney, Elizabeth, Weber, Astrid, Wilson, Louise C, Wilkie, Andrew O M
Publicado no J Med Genet (2017)

A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14

Por Solouki, Abbas M, Verhoeven, Virginie J M, van Duijn, Cornelia M, Verkerk, Annemieke J M H, Ikram, M Kamran, Hysi, Pirro G, Despriet, Dominiek D G, van Koolwijk, Leonieke M, Ho, Lintje, Ramdas, Wishal D, Czudowska, Monika, Kuijpers, Robert W A M, Amin, Najaf, Struchalin, Maksim, Aulchenko, Yurii S, van Rij, Gabriel, Riemslag, Frans C C, Young, Terri L, Mackey, David A, Spector, Timothy D, Gorgels, Theo G M F, Willemse-Assink, Jacqueline J M, Isaacs, Aaron, Kramer, Rogier, Swagemakers, Sigrid M A, Bergen, Arthur A B, van Oosterhout, Andy A L J, Oostra, Ben A, Rivadeneira, Fernando, Uitterlinden, André G, Hofman, Albert, de Jong, Paulus T V M, Hammond, Christopher J, Vingerling, Johannes R, Klaver, Caroline C W
Publicado em 2010