Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
Lelieveld, Stefan H, Reijnders, Margot R F, Pfundt, Rolph, Yntema, Helger G, Kamsteeg, Erik-Jan, de Vries, Petra, de Vries, Bert B A, Willemsen, Marjolein H, Kleefstra, Tjitske, Löhner, Katharina, Vreeburg, Maaike, Stevens, Servi J C, van der Burgt, Ineke, Bongers, Ernie M H F, Stegmann, Alexander P A, Rump, Patrick, Rinne, Tuula, Nelen, Marcel R, Veltman, Joris A, Vissers, Lisenka E L M, Brunner, Han G, Gilissen, Christian
Published in Nature neuroscience (01.09.2016)
Published in Nature neuroscience (01.09.2016)
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Noninvasive diagnosis of nasopharyngeal carcinoma: Nasopharyngeal brushings reveal high Epstein‐Barr virus DNA load and carcinoma‐specific viral BARF1 mRNA
Stevens, Servi J.C., Verkuijlen, Sandra A.W.M., Hariwiyanto, Bambang, Harijadi, Paramita, Dewi K., Fachiroh, Jajah, Adham, Marlinda, Tan, I. Bing, Haryana, Sophia M., Middeldorp, Jaap M.
Published in International journal of cancer (01.08.2006)
Published in International journal of cancer (01.08.2006)
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Journal Article
SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations
VAN UUM, Chris M. J, STEVENS, Servi J. C, DREESEN, Joseph C. F. M, DRÜSEDAU, Marion, SMEETS, Hubert J, HOLLANDERS-CROMBACH, Bertien, DE DIE-SMULDERS, Christine E. M, GERAEDTS, Joep Pm, ENGELEN, John J. M, COONEN, Edith
Published in European journal of human genetics : EJHG (01.09.2012)
Published in European journal of human genetics : EJHG (01.09.2012)
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Diagnostic Value of Measuring Epstein-Barr Virus (EBV) DNA Load and Carcinoma-Specific Viral mRNA in Relation to Anti-EBV Immunoglobulin A (IgA) and IgG Antibody Levels in Blood of Nasopharyngeal Carcinoma Patients from Indonesia
Stevens, Servi J. C, Verkuijlen, Sandra A. W. M, Hariwiyanto, Bambang, Harijadi, Fachiroh, Jajah, Paramita, Dewi K, Tan, I. Bing, Haryana, Sophia M, Middeldorp, Jaap M
Published in Journal of Clinical Microbiology (01.07.2005)
Published in Journal of Clinical Microbiology (01.07.2005)
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Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss
Essers, Rick, Lebedev, Igor N, Kurg, Ants, Fonova, Elizaveta A, Stevens, Servi J C, Koeck, Rebekka M, von Rango, Ulrike, Brandts, Lloyd, Deligiannis, Spyridon Panagiotis, Nikitina, Tatyana V, Sazhenova, Elena A, Tolmacheva, Ekaterina N, Kashevarova, Anna A, Fedotov, Dmitry A, Demeneva, Viktoria V, Zhigalina, Daria I, Drozdov, Gleb V, Al-Nasiry, Salwan, Macville, Merryn V E, van den Wijngaard, Arthur, Dreesen, Jos, Paulussen, Aimee, Hoischen, Alexander, Brunner, Han G, Salumets, Andres, Zamani Esteki, Masoud
Published in Nature medicine (01.12.2023)
Published in Nature medicine (01.12.2023)
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Journal Article
MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions
Stevens, Servi J.C., van Ravenswaaij-Arts, Conny M.A., Janssen, Jannie W.H., Klein Wassink-Ruiter, Jolien S., van Essen, Anthonie J., Dijkhuizen, Trijnie, van Rheenen, Jeroen, Heuts-Vijgen, Regina, Stegmann, Alexander P.A., Smeets, Eric E.J.G.L., Engelen, John J.M.
Published in American journal of medical genetics. Part A (01.11.2011)
Published in American journal of medical genetics. Part A (01.11.2011)
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Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing
Janssen, Anouk E J, Koeck, Rebekka M, Essers, Rick, Cao, Ping, van Dijk, Wanwisa, Drüsedau, Marion, Meekels, Jeroen, Yaldiz, Burcu, van de Vorst, Maartje, de Koning, Bart, Hellebrekers, Debby M E I, Stevens, Servi J C, Sun, Su Ming, Heijligers, Malou, de Munnik, Sonja A, van Uum, Chris M J, Achten, Jelle, Hamers, Lars, Naghdi, Marjan, Vissers, Lisenka E L M, van Golde, Ron J T, de Wert, Guido, Dreesen, Jos C F M, de Die-Smulders, Christine, Coonen, Edith, Brunner, Han G, van den Wijngaard, Arthur, Paulussen, Aimee D C, Zamani Esteki, Masoud
Published in Nature communications (02.09.2024)
Published in Nature communications (02.09.2024)
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Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro
Natesan, Senthilkumar A, Bladon, Alex J, Coskun, Serdar, Qubbaj, Wafa, Prates, Renata, Munne, Santiago, Coonen, Edith, Dreesen, Joseph C F M, Stevens, Servi J C, Paulussen, Aimee D C, Stock-Myer, Sharyn E, Wilton, Leeanda J, Jaroudi, Souraya, Wells, Dagan, Brown, Anthony P C, Handyside, Alan H
Published in Genetics in medicine (01.11.2014)
Published in Genetics in medicine (01.11.2014)
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Combination of Epstein–Barr virus scaffold (BdRF1/VCA-p40) and small capsid protein (BFRF3/VCA-p18) into a single molecule for improved serodiagnosis of acute and malignant EBV-driven disease
Fachiroh, Jajah, Stevens, Servi J.C., Haryana, Sofia M., Middeldorp, Jaap M.
Published in Journal of virological methods (01.10.2010)
Published in Journal of virological methods (01.10.2010)
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Journal Article
Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
Frints, Suzanna G.M., Hennig, Friederike, Colombo, Roberto, Jacquemont, Sebastien, Terhal, Paulien, Zimmerman, Holly H., Hunt, David, Mendelsohn, Bryce A., Kordaß, Ulrike, Webster, Richard, Sinnema, Margje, Abdul‐Rahman, Omar, Suckow, Vanessa, Fernández‐Jaén, Alberto, Roozendaal, Kees, Stevens, Servi J.C., Macville, Merryn V.E., Al‐Nasiry, Salwan, Gassen, Koen, Utzig, Norbert, Koudijs, Suzanne M., McGregor, Lesley, Maas, Saskia M., Baralle, Diana, Dixit, Abhijit, Wieacker, Peter, Lee, Marcus, Lee, Arthur S., Engle, Elizabeth C., Houge, Gunnar, Gradek, Gyri A., Douglas, Andrew G.L., Longman, Cheryl, Joss, Shelagh, Velasco, Danita, Hennekam, Raoul C., Hirata, Hiromi, Kalscheuer, Vera M.
Published in Human mutation (01.12.2019)
Published in Human mutation (01.12.2019)
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Journal Article
Epstein-Barr Virus DNA Load in Nasopharyngeal Brushings and Whole Blood in Nasopharyngeal Carcinoma Patients before and after Treatment
ADHAM, Marlinda, GREIJER, Astrid E, ATMAKUSUMAH, Djumhana, STEVENS, Servi J. C, HERMANI, Bambang, BING TAN, I, MIDDELDORP, Jaap M, VERKUIJLEN, Sandra A. W. M, JUWANA, Hedy, FLEIG, Sabine, RACHMADI, Lisnawati, MALIK, Octavia, KURNIAWAN, A. N, ROEZIN, Averdi, GONDHOWIARDJO, Soehartati
Published in Clinical cancer research (15.04.2013)
Published in Clinical cancer research (15.04.2013)
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Journal Article
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development
Platzer, Konrad, Cogné, Benjamin, Hague, Jennifer, Marcelis, Carlo L., Mitter, Diana, Oberndorff, Katrin, Park, Soo‐Mi, Ploos van Amstel, Hans K., Simonic, Ingrid, van der Smagt, Jasper J., Stegmann, Alexander P.A., Stevens, Servi J.C., Stumpel, Constance T.R.M., Vincent, Marie, Lemke, Johannes R., Jamra, Rami
Published in Annals of neurology (01.08.2018)
Published in Annals of neurology (01.08.2018)
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Journal Article
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability
Marom, Ronit, Jain, Mahim, Burrage, Lindsay C., Song, I‐Wen, Graham, Brett H., Brown, Chester W., Stevens, Servi J.C., Stegmann, Alexander P.A., Gunter, Andrew T., Kaplan, Julie D., Gavrilova, Ralitza H., Shinawi, Marwan, Rosenfeld, Jill A., Bae, Yangjin, Tran, Alyssa A., Chen, Yuqing, Lu, James T., Gibbs, Richard A., Eng, Christine, Yang, Yaping, Rousseau, Justine, Vries, Bert B.A., Campeau, Philippe M., Lee, Brendan
Published in Human mutation (01.10.2017)
Published in Human mutation (01.10.2017)
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Journal Article
De novo mutations in the SET nuclear proto‐oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability
Stevens, Servi J.C., der Schoot, Vyne, Leduc, Magalie S., Rinne, Tuula, Lalani, Seema R., Weiss, Marjan M., Hagen, Johanna M., Lachmeijer, Augusta M.A., Stockler‐Ipsiroglu, Sylvia G., Lehman, Anna, Brunner, Han G
Published in Human mutation (01.07.2018)
Published in Human mutation (01.07.2018)
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Journal Article
Aberrant Epstein-Barr virus persistence in HIV carriers is characterized by anti-Epstein-Barr virus IgA and high cellular viral loads with restricted transcription
STEVENS, Servi J. C, SMITS, Paul H. M, VERKUIJLEN, Sandra A. W. M, ROCKX, Davy A. P, VAN GORP, Eric C. M, MULDER, Jan W, MIDDELDORP, Jaap M
Published in AIDS (London) (18.10.2007)
Published in AIDS (London) (18.10.2007)
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Journal Article
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene
Schoot, Vyne, Munnik, Sonja, Venselaar, Hanka, Elting, Mariet, Mancini, Grazia M. S., Ravenswaaij‐Arts, Conny M. A., Anderlid, Britt‐Marie, Brunner, Han G., Stevens, Servi J. C.
Published in Molecular genetics & genomic medicine (01.05.2018)
Published in Molecular genetics & genomic medicine (01.05.2018)
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Journal Article
Comparison of Quantitative Competitive PCR with LightCycler-Based PCR for Measuring Epstein-Barr Virus DNA Load in Clinical Specimens
STEVENS, Servi J. C, VERKUIJLEN, Sandra A. W. M, VAN DEN BRULE, Adriaan J. C, MIDDELDORP, Jaap M
Published in Journal of Clinical Microbiology (01.11.2002)
Published in Journal of Clinical Microbiology (01.11.2002)
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Journal Article
Frequent monitoring of Epstein-Barr virus DNA load in unfractionated whole blood is essential for early detection of posttransplant lymphoproliferative disease in high-risk patients
Stevens, Servi J.C., Verschuuren, Erik A.M., Pronk, Inge, van der Bij, Wim, Harmsen, Martin C., The, T. Hauw, Meijer, Chris J. L.M., van den Brule, Adriaan J.C., Middeldorp, Jaap M.
Published in Blood (01.03.2001)
Published in Blood (01.03.2001)
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Journal Article
Partial monosomy 8p/trisomy 8q in a newborn infant due to a maternal three-way translocation: Clinical and cytogenetic comparison with San Luis Valley syndrome
Stevens, Servi J.C., Smeets, Eric E.J.G.L., van den Broek, Naomi, Droog, Richard P., Breukels, Mijke A., Albrechts, Jozefa C.M., Delst, Marion Rauh-van, Traa, Erik, Lennarts, Melanie, Janssen, Jannie W.H., Engelen, John J.M.
Published in American journal of medical genetics. Part A (01.08.2010)
Published in American journal of medical genetics. Part A (01.08.2010)
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