| Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies IJ Nijman, JM van Montfrans, M Hoogstraat, ML Boes, L van de Corput, ... Journal of Allergy and Clinical Immunology 133 (2), 529-534. e1, 2014 | 190 | 2014 |
| Partial duplication of the PRLR and SPEF2 genes at the late feathering locus in chicken MG Elferink, AAA Vallée, AP Jungerius, RPMA Crooijmans, ... BMC genomics 9, 1-9, 2008 | 146 | 2008 |
| Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome HD De Koning, ME Van Gijn, M Stoffels, J Jongekrijg, PLJM Zeeuwen, ... Journal of Allergy and Clinical Immunology 135 (2), 561-564. e4, 2015 | 131 | 2015 |
| Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study D Van Opstal, MC Van Maarle, K Lichtenbelt, MM Weiss, ... Genetics in Medicine 20 (5), 480-485, 2018 | 123 | 2018 |
| Signatures of selection in the genomes of commercial and non-commercial chicken breeds MG Elferink, HJ Megens, A Vereijken, X Hu, RPMA Crooijmans, ... PloS one 7 (2), e32720, 2012 | 111 | 2012 |
| Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects T Vrijenhoek, K Kraaijeveld, M Elferink, J De Ligt, E Kranendonk, ... European Journal of Human Genetics 23 (9), 1142-1150, 2015 | 106 | 2015 |
| Whole genome SNP discovery and analysis of genetic diversity in Turkey (Meleagris gallopavo) ML Aslam, JWM Bastiaansen, MG Elferink, HJ Megens, ... BMC genomics 13, 1-14, 2012 | 92 | 2012 |
| Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability AP Willems, M Gundogdu, MJE Kempers, JC Giltay, R Pfundt, M Elferink, ... Journal of Biological Chemistry 292 (30), 12621-12631, 2017 | 89 | 2017 |
| Regional differences in recombination hotspots between two chicken populations MG Elferink, P van As, T Veenendaal, RPMA Crooijmans, MAM Groenen BMC genetics 11, 1-10, 2010 | 55 | 2010 |
| Genetics-first approach improves diagnostics of ESKD patients< 50 years old R Snoek, RH van Jaarsveld, TQ Nguyen, EDJ Peters, MG Elferink, ... Nephrology Dialysis Transplantation 37 (2), 349-357, 2022 | 39 | 2022 |
| The use of blood gas parameters to predict ascites susceptibility in juvenile broilers P Van As, MG Elferink, AM Closter, A Vereijken, H Bovenhuis, ... Poultry Science 89 (8), 1684-1691, 2010 | 32 | 2010 |
| Cell-free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case R Hochstenbach, PGJ Nikkels, MG Elferink, MA Oudijk, C van Oppen, ... Clinical case reports 3 (6), 489, 2015 | 28 | 2015 |
| Accurate detection of circulating tumor DNA using nanopore consensus sequencing A Marcozzi, M Jager, M Elferink, R Straver, JH van Ginkel, B Peltenburg, ... NPJ genomic medicine 6 (1), 106, 2021 | 25 | 2021 |
| Unexplained false negative results in noninvasive prenatal testing: two cases involving trisomies 13 and 18 R Hochstenbach, G Page-Christiaens, ACC van Oppen, KD Lichtenbelt, ... Case reports in genetics 2015 (1), 926545, 2015 | 24 | 2015 |
| Maternal vitamin B12 deficiency and abnormal cell‐free DNA results in pregnancy H Schuring‐Blom, K Lichtenbelt, K van Galen, M Elferink, M Weiss, ... Prenatal Diagnosis 36 (8), 790-793, 2016 | 23 | 2016 |
| Genetic correlation between heart ratio and body weight as a function of ascites frequency in broilers split up into sex and health status AM Closter, P Van As, MG Elferink, R Crooijmanns, MAM Groenen, ... Poultry science 91 (3), 556-564, 2012 | 23 | 2012 |
| Novel algorithms for improved sensitivity in non-invasive prenatal testing LF Johansson, EN De Boer, HA De Weerd, F Van Dijk, MG Elferink, ... Scientific Reports 7 (1), 1838, 2017 | 20 | 2017 |
| Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome A Ramirez-Martinez, Y Zhang, MJ Van den Boogaard, JR McAnally, ... The Journal of Clinical Investigation 132 (11), 2022 | 14 | 2022 |
| Discordant NIPT result in a viable trisomy‐21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy‐14 cotwin R Hochstenbach, MG Elferink, PHA van Zon, KD Lichtenbelt, ... Clinical case reports 6 (5), 788, 2018 | 14 | 2018 |
| Analysis of laboratory reporting practices using a quality assessment of a virtual patient DF Vears, M Elferink, M Kriek, P Borry, KL van Gassen Genetics in Medicine 23 (3), 562-570, 2021 | 11 | 2021 |
