Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions
van Steensel, Bas, Guelen, Lars, Pagie, Ludo, Brasset, Emilie, Meuleman, Wouter, Faza, Marius B, Talhout, Wendy, Eussen, Bert H, de Klein, Annelies, Wessels, Lodewyk, de Laat, Wouter
Published in Nature (12.06.2008)
Published in Nature (12.06.2008)
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Journal Article
Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing
Haarman, Annechien E.G., Klaver, Caroline C.W., Tedja, Milly S., Roosing, Susanne, Astuti, Galuh, Gilissen, Christian, Hoefsloot, Lies H., van Tienhoven, Marianne, Brands, Tom, Magielsen, Frank J., Eussen, Bert H.J.F.M.M., de Klein, Annelies, Brosens, Erwin, Verhoeven, Virginie J.M.
Published in Ophthalmology science (Online) (01.12.2023)
Published in Ophthalmology science (Online) (01.12.2023)
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Journal Article
Molecular Genetics of Conjunctival Melanoma and Prognostic Value of TERT Promoter Mutation Analysis
van Poppelen, Natasha M., van Ipenburg, Jolique A., van den Bosch, Quincy, Vaarwater, Jolanda, Brands, Tom, Eussen, Bert, Magielsen, Frank, Dubbink, Hendrikus J., Paridaens, Dion, Brosens, Erwin, Naus, Nicole, de Klein, Annelies, Kiliç, Emine, Verdijk, Robert M.
Published in International journal of molecular sciences (28.05.2021)
Published in International journal of molecular sciences (28.05.2021)
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Journal Article
Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity
Knijnenburg, Jeroen, Uytdewilligen, Madiek E.W, van Hassel, Daniella A.C.M, Oostenbrink, Rianne, Eussen, Bert H.J, de Klein, Annelies, Brooks, Alice S, van Zutven, Laura J.C.M
Published in European journal of medical genetics (01.09.2017)
Published in European journal of medical genetics (01.09.2017)
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Journal Article
Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis
Korpershoek, Esther, Koffy, Djamailys, Eussen, Bert H, Oudijk, Lindsey, Papathomas, Thomas G, van Nederveen, Francien H, Belt, Eric J. T, Franssen, Gaston J. H, Restuccia, David F. J, Krol, Niels M. G, van der Luijt, Rob B, Feelders, Richard A, Oldenburg, Rogier A, van Ijcken, Wilfred F. J, de Klein, Annelies, de Herder, Wouter W, de Krijger, Ronald R, Dinjens, Winand N. M
Published in The journal of clinical endocrinology and metabolism (01.02.2016)
Published in The journal of clinical endocrinology and metabolism (01.02.2016)
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Journal Article
Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity
van Bever, Yolande, Wolffenbuttel, Katja P., Brüggenwirth, Hennie T., Blom, Eric, de Klein, Annelies, Eussen, Bert H.J., van der Windt, Florijn, Hannema, Sabine E., Dessens, Arianne B., Dorssers, Lambert C.J., Biermann, Katharina, Hersmus, Remko, de Rijke, Yolanda B., Looijenga, Leendert H.J.
Published in Sexual development (01.02.2018)
Published in Sexual development (01.02.2018)
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Journal Article
Cntnap2 is disrupted in a family with gilles de la tourette syndrome and obsessive compulsive disorder
Verkerk, Annemieke J.M.H., Mathews, Carol A., Joosse, Marijke, Eussen, Bert H.J., Heutink, Peter, Oostra, Ben A.
Published in Genomics (San Diego, Calif.) (01.07.2003)
Published in Genomics (San Diego, Calif.) (01.07.2003)
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Journal Article
Correlation of Gene Mutation Status with Copy Number Profile in Uveal Melanoma
Yavuzyigitoglu, Serdar, MD, Drabarek, Wojtek, MD, Smit, Kyra N., MSc, van Poppelen, Natasha, MD, Koopmans, Anna E., MD, PhD, Vaarwater, Jolanda, BSc, Brands, Tom, BSc, Eussen, Bert, BSc, Dubbink, Hendrikus J., PhD, van Riet, Job, BSc, van de Werken, Harmen J.G., PhD, Beverloo, Berna, PhD, Verdijk, Robert M., MD, PhD, Naus, Nicole, MD, PhD, Paridaens, Dion, MD, PhD, Kilic, Emine, MD, PhD, de Klein, Annelies, PhD
Published in Ophthalmology (Rochester, Minn.) (01.04.2017)
Published in Ophthalmology (Rochester, Minn.) (01.04.2017)
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Journal Article
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
Brosens, Erwin, Marsch, Florian, de Jong, Elisabeth M, Zaveri, Hitisha P, Hilger, Alina C, Choinitzki, Vera Gisela, Hölscher, Alice, Hoffmann, Per, Herms, Stefan, Boemers, Thomas M, Ure, Benno M, Lacher, Martin, Ludwig, Michael, Eussen, Bert H, van der Helm, Robert M, Douben, Hannie, Van Opstal, Diane, Wijnen, Rene M H, Beverloo, H Berna, van Bever, Yolande, Brooks, Alice S, IJsselstijn, Hanneke, Scott, Daryl A, Schumacher, Johannes, Tibboel, Dick, Reutter, Heiko, de Klein, Annelies
Published in European journal of human genetics : EJHG (01.12.2016)
Published in European journal of human genetics : EJHG (01.12.2016)
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Journal Article
Quantification of MYCN, DDX1, and NAG Gene Copy Number in Neuroblastoma Using a Real-Time Quantitative PCR Assay
De Preter, Katleen, Speleman, Frank, Combaret, Valérie, Lunec, John, Laureys, Geneviève, Eussen, Bert H J, Francotte, Nadine, Board, Julian, Pearson, Andy D J, De Paepe, Anne, Van Roy, Nadine, Vandesompele, Jo
Published in Modern pathology (01.02.2002)
Published in Modern pathology (01.02.2002)
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Journal Article
A cellular reporter system to evaluate endogenous fetal hemoglobin induction and screen for therapeutic compounds
Verheul, Thijs C. J., Gillemans, Nynke, Putzker, Kerstin, Majied, Rezin, Li, Tingyue, Vasiliou, Memnia, Eussen, Bert, Klein, Annelies, IJcken, Wilfred F. J., Akker, Emile, Lindern, Marieke, Lewis, Joe, Uhrig, Ulrike, Nakamura, Yukio, Dijk, Thamar, Philipsen, Sjaak
Published in HemaSphere (01.08.2024)
Published in HemaSphere (01.08.2024)
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Journal Article
Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B
Buijsen, Ronald A.M., Gardiner, Sarah L., Bouma, Marga J., van der Graaf, Linda M., Boogaard, Merel W., Pepers, Barry A., Eussen, Bert, de Klein, Annelies, Freund, Christian, van Roon-Mom, Willeke M.C.
Published in Stem cell research (01.05.2018)
Published in Stem cell research (01.05.2018)
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Journal Article
5q11.2 deletion in a patient with tracheal agenesis
DE JONG, Elisabeth M, DOUBEN, Hannie, EUSSEN, Bert H, FELIX, Janine F, WESSELS, Marja W, PODDIGHE, Pino J, NIKKELS, Peter Gj, DE KRIJGER, Ronald R, TIBBOEL, Dick, DE KLEIN, Annelies
Published in European journal of human genetics : EJHG (01.11.2010)
Published in European journal of human genetics : EJHG (01.11.2010)
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Journal Article
Uveal Melanomas with SF3B1 Mutations
Yavuzyigitoglu, Serdar, MD, Koopmans, Anna E., MD, PhD, Verdijk, Robert M., MD, PhD, Vaarwater, Jolanda, BSc, Eussen, Bert, BSc, van Bodegom, Alice, BSc, Paridaens, Dion, MD, PhD, Kiliç, Emine, MD, PhD, de Klein, Annelies, PhD
Published in Ophthalmology (Rochester, Minn.) (01.05.2016)
Published in Ophthalmology (Rochester, Minn.) (01.05.2016)
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Journal Article
Stable X Chromosome Reactivation in Female Human Induced Pluripotent Stem Cells
Barakat, Tahsin Stefan, Ghazvini, Mehrnaz, de Hoon, Bas, Li, Tracy, Eussen, Bert, Douben, Hannie, van der Linden, Reinier, van der Stap, Nathalie, Boter, Marjan, Laven, Joop S., Galjaard, Robert-Jan, Grootegoed, J. Anton, de Klein, Annelies, Gribnau, Joost
Published in Stem cell reports (10.02.2015)
Published in Stem cell reports (10.02.2015)
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Journal Article
Structural and numerical changes of chromosome X in patients with esophageal atresia
Brosens, Erwin, de Jong, Elisabeth M, Barakat, Tahsin Stefan, Eussen, Bert H, D'haene, Barbara, De Baere, Elfride, Verdin, Hannah, Poddighe, Pino J, Galjaard, Robert-Jan, Gribnau, Joost, Brooks, Alice S, Tibboel, Dick, de Klein, Annelies
Published in European journal of human genetics : EJHG (01.09.2014)
Published in European journal of human genetics : EJHG (01.09.2014)
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Journal Article
Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease
van der Graaf, Linda M., Gardiner, Sarah L., Tok, Merve, Brands, Tom, Boogaard, Merel W., Pepers, Barry A., Eussen, Bert, de Klein, Annelies, Aziz, N. Ahmad, Freund, Christian, Buijsen, Ronald A.M., van Roon-Mom, Willeke M.C.
Published in Stem cell research (01.08.2019)
Published in Stem cell research (01.08.2019)
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Journal Article
Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients
van der Wal, Erik, den Hamer, Bianca, van der Vliet, Patrick J., Tok, Merve, Brands, Tom, Eussen, Bert, Lemmers, Richard J.L.F., Freund, Christian, de Klein, Annelies, Buijsen, Ronald A.M., van Roon-Mom, Willeke M.C., Tawil, Rabi, van der Maarel, Silvère M., de Greef, Jessica C.
Published in Stem cell research (01.10.2019)
Published in Stem cell research (01.10.2019)
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Journal Article
High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization
Veltman, Joris A., Schoenmakers, Eric F.P.M., Eussen, Bert H., Janssen, Irene, Merkx, Gerard, van Cleef, Brigitte, van Ravenswaaij, Conny M., Brunner, Han G., Smeets, Dominique, van Kessel, Ad Geurts
Published in American journal of human genetics (01.05.2002)
Published in American journal of human genetics (01.05.2002)
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Journal Article
A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus
Oei, Ling, Hsu, Yi-Hsiang, Styrkarsdottir, Unnur, Eussen, Bert H, de Klein, Annelies, Peters, Marjolein J, Halldorsson, Bjarni, Liu, Ching-Ti, Alonso, Nerea, Kaptoge, Stephen K, Thorleifsson, Gudmar, Hallmans, Göran, Hocking, Lynne J, Husted, Lise Bjerre, Jameson, Karen A, Kruk, Marcin, Lewis, Joshua R, Patel, Millan S, Scollen, Serena, Svensson, Olle, Trompet, Stella, van Schoor, Natasja M, Zhu, Kun, Buckley, Brendan M, Cooper, Cyrus, Ford, Ian, Goltzman, David, González-Macías, Jesús, Langdahl, Bente Lomholt, Leslie, William D, Lips, Paul, Lorenc, Roman S, Olmos, José M, Pettersson-Kymmer, Ulrika, Reid, David M, Riancho, José A, Slagboom, P Eline, Garcia-Ibarbia, Carmen, Ingvarsson, Thorvaldur, Johannsdottir, Hrefna, Luben, Robert, Medina-Gómez, Carolina, Arp, Pascal, Nandakumar, Kannabiran, Palsson, Stefan Th, Sigurdsson, Gunnar, van Meurs, Joyce B J, Zhou, Yanhua, Hofman, Albert, Jukema, J Wouter, Pols, Huibert A P, Prince, Richard L, Cupples, L Adrienne, Marshall, Christian R, Pinto, Dalila, Sato, Daisuke, Scherer, Stephen W, Reeve, Jonathan, Thorsteinsdottir, Unnur, Karasik, David, Richards, J Brent, Stefansson, Kari, Uitterlinden, André G, Ralston, Stuart H, Ioannidis, John P A, Kiel, Douglas P, Rivadeneira, Fernando, Estrada, Karol
Published in Journal of medical genetics (01.02.2014)
Published in Journal of medical genetics (01.02.2014)
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