Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability SH Lelieveld, MRF Reijnders, R Pfundt, HG Yntema, EJ Kamsteeg, ... Nature neuroscience 19 (9), 1194-1196, 2016 | 468 | 2016 |
Frequent monitoring of Epstein-Barr virus DNA load in unfractionated whole blood is essential for early detection of posttransplant lymphoproliferative disease in high-risk … SJC Stevens, EAM Verschuuren, I Pronk, W van der Bij, MC Harmsen, ... Blood, The Journal of the American Society of Hematology 97 (5), 1165-1171, 2001 | 331 | 2001 |
TRIDENT-2: national implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands KRM van der Meij, EA Sistermans, MVE Macville, SJC Stevens, CJ Bax, ... The American Journal of Human Genetics 105 (6), 1091-1101, 2019 | 283 | 2019 |
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders R Pfundt, M Del Rosario, LELM Vissers, MP Kwint, IM Janssen, ... Genetics in Medicine 19 (6), 667-675, 2017 | 185 | 2017 |
Toward standardization of Epstein-Barr virus DNA load monitoring: unfractionated whole blood as preferred clinical specimen SJC Stevens, I Pronk, JM Middeldorp Journal of Clinical Microbiology 39 (4), 1211-1216, 2001 | 172 | 2001 |
Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro SA Natesan, AJ Bladon, S Coskun, W Qubbaj, R Prates, S Munne, ... Genetics in Medicine 16 (11), 838-845, 2014 | 171 | 2014 |
Disruption of POGZ is associated with intellectual disability and autism spectrum disorders HAF Stessman, MH Willemsen, M Fenckova, O Penn, A Hoischen, ... The American Journal of Human Genetics 98 (3), 541-552, 2016 | 167 | 2016 |
Treatment of posttransplant lymphoproliferative disease with rituximab: the remission, the relapse, and the complication EAM Verschuuren, SJC Stevens, GW van Imhoff, JM Middeldorp, ... Transplantation 73 (1), 100-104, 2002 | 162 | 2002 |
Monitoring of Epstein-Barr virus DNA load in peripheral blood by quantitative competitive PCR SJC Stevens, MBHJ Vervoort, AJC van den Brule, PL Meenhorst, ... Journal of clinical microbiology 37 (9), 2852-2857, 1999 | 151 | 1999 |
A phase I trial of epstein-barr virus gp350 vaccine for children with chronic kidney disease awaiting transplantation L Rees, EJ Tizard, AJ Morgan, WD Cubitt, S Finerty, TA Oyewole-Eletu, ... Transplantation 88 (8), 1025-1029, 2009 | 150 | 2009 |
Noninvasive diagnosis of nasopharyngeal carcinoma: nasopharyngeal brushings reveal high Epstein‐Barr virus DNA load and carcinoma‐specific viral BARF1 mRNA SJC Stevens, SAWM Verkuijlen, B Hariwiyanto, Harijadi, DK Paramita, ... International journal of cancer 119 (3), 608-614, 2006 | 141 | 2006 |
Role of Epstein-Barr virus DNA load monitoring in prevention and early detection of post-transplant lymphoproliferative disease SJC Stevens, EAM Verschuuren, SAWM Verkuijlen, AJC Van Den Brule, ... Leukemia & lymphoma 43 (4), 831-840, 2002 | 122 | 2002 |
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 … SJC Stevens, SAWM Verkuijlen, B Hariwiyanto, Harijadi, J Fachiroh, ... Journal of clinical microbiology 43 (7), 3066-3073, 2005 | 113 | 2005 |
High Epstein–Barr virus (EBV) DNA loads in HIV-infected patients: correlation with antiretroviral therapy and quantitative EBV serology SJC Stevens, BSN Blank, PHM Smits, PL Meenhorst, JM Middeldorp Aids 16 (7), 993-1001, 2002 | 109 | 2002 |
De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome JH Kim, DN Shinde, MRF Reijnders, NS Hauser, RL Belmonte, GR Wilson, ... The American Journal of Human Genetics 99 (3), 711-719, 2016 | 101 | 2016 |
Molecular fine-specificity analysis of antibody responses to human cytomegalovirus and design of novel synthetic-peptide-based serodiagnostic assays AE Greijer, JMG van de Crommert, SJC Stevens, JM Middeldorp Journal of clinical microbiology 37 (1), 179-188, 1999 | 96 | 1999 |
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder A Chaudhry, A Noor, B Degagne, K Baker, LA Bok, AF Brady, D Chitayat, ... Clinical genetics 88 (3), 224-233, 2015 | 90 | 2015 |
Epstein-Barr virus DNA load in nasopharyngeal brushings and whole blood in nasopharyngeal carcinoma patients before and after treatment M Adham, AE Greijer, SAWM Verkuijlen, H Juwana, S Fleig, L Rachmadi, ... Clinical Cancer Research 19 (8), 2175-2186, 2013 | 80 | 2013 |
MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions SJC Stevens, CMA van Ravenswaaij‐Arts, JWH Janssen, ... American Journal of Medical Genetics Part A 155 (11), 2739-2745, 2011 | 77 | 2011 |
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature MRF Reijnders, R Janowski, M Alvi, JE Self, TJ Van Essen, M Vreeburg, ... Journal of medical genetics 55 (2), 104-113, 2018 | 73 | 2018 |