The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent
Vijzelaar, Raymon, Snetselaar, Reinier, Clausen, Martijn, Mason, Amanda G, Rinsma, Marrit, Zegers, Marinka, Molleman, Naomi, Boschloo, Renske, Yilmaz, Rizkat, Kuilboer, Romy, Lens, Sylvia, Sulchan, Syamiroh, Schouten, Jan
Published in PloS one (24.07.2019)
Published in PloS one (24.07.2019)
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Journal Article
Methylation-Specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences
Nygren, Anders O. H., Ameziane, Najim, Duarte, Helena M. B., Vijzelaar, Raymon N. C. P., Waisfisz, Quinten, Hess, Corine J., Schouten, Jan P., Errami, Abdellatif
Published in Nucleic acids research (01.01.2005)
Published in Nucleic acids research (01.01.2005)
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Journal Article
Preemptive screening of DPYD as part of clinical practice: high prevalence of a novel exon 4 deletion in the Finnish population
Saarenheimo, Jatta, Wahid, Nesna, Eigeliene, Natalja, Ravi, Ravichandra, Salomons, Gajja S., Ojeda, Matilde Fernandez, Vijzelaar, Raymon, Jekunen, Antti, van Kuilenburg, André B. P.
Published in Cancer chemotherapy and pharmacology (01.05.2021)
Published in Cancer chemotherapy and pharmacology (01.05.2021)
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Molecular profiling of invasive breast cancer by multiplex ligation-dependent probe amplification-based copy number analysis of tumor suppressor and oncogenes
Moelans, Cathy B, de Weger, Roel A, Monsuur, Hanneke N, Vijzelaar, Raymon, van Diest, Paul J
Published in Modern pathology (01.07.2010)
Published in Modern pathology (01.07.2010)
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Journal Article
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
Haer-Wigman, Lonneke, den Ouden, Amber, Derks, Ronny, van Genderen, Maria M., Lugtenberg, Dorien, Verheij, Joke, Vijzelaar, Raymon, Yntema, Helger G., Vissers, Lisenka E. L. M., Neveling, Kornelia
Published in Npj genomic medicine (04.05.2024)
Published in Npj genomic medicine (04.05.2024)
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Journal Article
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA
Haer-Wigman, Lonneke, den Ouden, Amber, van Genderen, Maria M., Kroes, Hester Y., Verheij, Joke, Smailhodzic, Dzenita, Hoekstra, Attje S., Vijzelaar, Raymon, Blom, Jan, Derks, Ronny, Tjon-Pon-Fong, Menno, Yntema, Helger G., Nelen, Marcel R., Vissers, Lisenka E.L.M., Lugtenberg, Dorien, Neveling, Kornelia
Published in Npj genomic medicine (09.11.2022)
Published in Npj genomic medicine (09.11.2022)
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Journal Article
Identification of SPRED1 deletions using RT‐PCR, multiplex ligation‐dependent probe amplification and quantitative PCR
Spencer, Emily, Davis, Julia, Mikhail, Fady, Fu, Chuanhua, Vijzelaar, Raymon, Zackai, Elaine H, Feret, Holly, Meyn, M Stephen, Shugar, Andrea, Bellus, Gary, Kocsis, Kristina, Kivirikko, Sirpa, Pöyhönen, Minna, Messiaen, Ludwine
Published in American journal of medical genetics. Part A (01.06.2011)
Published in American journal of medical genetics. Part A (01.06.2011)
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Journal Article
Investigation of the Role of Copy Number Variation In the Pathogenesis of Type 1 Von Willebrand Disease
Hampshire, Daniel J., Bloomer, Lisa D., Al-Buhairan, Ahlam M., Coyle, Rachael E., Vijzelaar, Raymon N.C.P., Lillicrap, David, James, Paula D., Eikenboom, Jeroen C.J., Schneppenheim, Reinhard, Rodeghiero, Francesco, Montgomery, Robert R., Peake, Ian R., Goodeve, Anne C.
Published in Blood (19.11.2010)
Published in Blood (19.11.2010)
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Journal Article
Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction
Zvereff, Val, Yao, Suxia, Ramsey, Julia, Mikhail, Fady M, Vijzelaar, Raymon, Messiaen, Ludwine
Published in Genetic testing and molecular biomarkers (01.08.2010)
Published in Genetic testing and molecular biomarkers (01.08.2010)
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Journal Article
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Ravesh, Zeinab, Cideciyan, Artur V, Stingl, Katarina, Audo, Isabelle, Meunier, Isabelle, Bocquet, Beatrice, Traboulsi, Elias I, Hardcastle, Alison J, Gardner, Jessica C, Michaelides, Michel, Branham, Kari E, Rosenberg, Thomas, Andreasson, Sten, Dollfus, Hélène, Birch, David, Vincent, Andrea L, Martorell, Loreto, Català Mora, Jaume, Kellner, Ulrich, Rüther, Klaus, Lorenz, Birgit, Preising, Markus N, Manfredini, Emanuela, Zarate, Yuri A, Vijzelaar, Raymon, Zrenner, Eberhart, Jacobson, Samuel G, Kohl, Susanne
Published in Proceedings of the National Academy of Sciences - PNAS (05.07.2022)
Published in Proceedings of the National Academy of Sciences - PNAS (05.07.2022)
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Journal Article
Multi-ethnic
Vijzelaar, Raymon, Botton, Mariana R, Stolk, Lisette, Martis, Suparna, Desnick, Robert J, Scott, Stuart A
Published in Pharmacogenomics (01.05.2018)
Published in Pharmacogenomics (01.05.2018)
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Journal Article
MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease
Amico, Giulia, Grossi, Serena, Vijzelaar, Raymon, Lanza, Federica, Mazzotti, Raffaella, Corsolini, Fabio, Ketema, Mirjam, Filocamo, Mirella
Published in Molecular genetics and metabolism (01.12.2016)
Published in Molecular genetics and metabolism (01.12.2016)
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Journal Article
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients
Zollino, Marcella, Marangi, Giuseppe, Ponzi, Emanuela, Orteschi, Daniela, Ricciardi, Stefania, Lattante, Serena, Murdolo, Marina, Battaglia, Domenica, Contaldo, Ilaria, Mercuri, Eugenio, Stefanini, Maria Chiara, Caumes, Roseline, Edery, Patrick, Rossi, Massimiliano, Piccione, Maria, Corsello, Giovanni, Della Monica, Matteo, Scarano, Francesca, Priolo, Manuela, Gentile, Mattia, Zampino, Giuseppe, Vijzelaar, Raymon, Abdulrahman, Omar, Rauch, Anita, Oneda, Beatrice, Deardorff, Matthew A, Saitta, Sulagna C, Falk, Marni J, Dubbs, Holly, Zackai, Elaine
Published in Journal of medical genetics (01.12.2015)
Published in Journal of medical genetics (01.12.2015)
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Journal Article
Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome
Messiaen, Ludwine, Yao, Suxia, Brems, Hilde, Callens, Tom, Sathienkijkanchai, Achara, Denayer, Ellen, Spencer, Emily, Arn, Pamela, Babovic-Vuksanovic, Dusica, Bay, Carolyn, Bobele, Gary, Cohen, Bruce H, Escobar, Luis, Eunpu, Deborah, Grebe, Theresa, Greenstein, Robert, Hachen, Rachel, Irons, Mira, Kronn, David, Lemire, Edmond, Leppig, Kathleen, Lim, Cynthia, McDonald, Marie, Narayanan, Vinodh, Pearn, Amy, Pedersen, Robert, Powell, Berkley, Shapiro, Lawrence R, Skidmore, David, Tegay, David, Thiese, Heidi, Zackai, Elaine H, Vijzelaar, Raymon, Taniguchi, Koji, Ayada, Toranoshin, Okamoto, Fuyuki, Yoshimura, Akihiko, Parret, Annabel, Korf, Bruce, Legius, Eric
Published in JAMA : the journal of the American Medical Association (18.11.2009)
Published in JAMA : the journal of the American Medical Association (18.11.2009)
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Journal Article
Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
Idkowiak, Jan, Taylor, Angela E, Subtil, Sandra, O'Neil, Donna M, Vijzelaar, Raymon, Dias, Renuka P, Amin, Rakesh, Barrett, Timothy G, Shackleton, Cedric H. L, Kirk, Jeremy M. W, Moss, Celia, Arlt, Wiebke
Published in The journal of clinical endocrinology and metabolism (01.06.2016)
Published in The journal of clinical endocrinology and metabolism (01.06.2016)
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Journal Article
Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection
Qiao, Wanqiong, Martis, Suparna, Mendiratta, Geetu, Shi, Lisong, Botton, Mariana R, Yang, Yao, Gaedigk, Andrea, Vijzelaar, Raymon, Edelmann, Lisa, Kornreich, Ruth, Desnick, Robert J, Scott, Stuart A
Published in Pharmacogenomics (01.01.2019)
Published in Pharmacogenomics (01.01.2019)
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Journal Article
Integrated
Qiao, Wanqiong, Martis, Suparna, Mendiratta, Geetu, Shi, Lisong, Botton, Mariana R, Yang, Yao, Gaedigk, Andrea, Vijzelaar, Raymon, Edelmann, Lisa, Kornreich, Ruth, Desnick, Robert J, Scott, Stuart A
Published in Pharmacogenomics (01.12.2018)
Published in Pharmacogenomics (01.12.2018)
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Journal Article
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy
Wadman, Renske I, Jansen, Marc D, Stam, Marloes, Wijngaarde, Camiel A, Curial, Chantall A D, Medic, Jelena, Sodaar, Peter, Schouten, Jan, Vijzelaar, Raymon, Lemmink, Henny H, van den Berg, Leonard H, Groen, Ewout J N, van der Pol, W Ludo
Published in Brain communications (01.01.2020)
Published in Brain communications (01.01.2020)
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