Martin  Elferink
Martin Elferink
UMC Utrecht
Verified email at umcutrecht.nl
TitleCited byYear
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
1152014
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
842015
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), 391, 2008
832008
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
632015
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), 391, 2012
552012
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), 2012
542012
Regional differences in recombination hotspots between two chicken populations
MG Elferink, P van As, T Veenendaal, RPMA Crooijmans, MAM Groenen
BMC genetics 11 (1), 11, 2010
372010
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
262010
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
232018
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
222017
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), 489-491, 2015
162015
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
152012
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, 2015
142015
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), 1-11, 2017
112017
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
62016
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
42018
Targeted NGS based hereditary autoinflammatory disorder screening in routine diagnostics, two year experience in the Netherlands
MG Elferink, P Van Zon, J Frenkel, W Harts, A Simon, ...
Pediatric Rheumatology 13 (S1), P51, 2015
22015
NEXT GENERATION SEQUENCING IN THE DIAGNOSIS OF RED BLOOD CELL MEMBRANE DISORDERS: O45
R van Wijk, M Vogel, M Elferink, I Nijman, E Cuppen, W van Solinge, ...
International Journal of Laboratory Hematology 36, 2014
22014
Molecular characterization of the Leptin Receptor Gene as a candidate gene in the Pulmonary Hypertension Syndrome in Broiler Chickens
O BAMIDEL, P Van As, MG Elferink
Pakistan Journal of Biological Sciences 15 (24), 1187, 2012
22012
Genome-wide association analysis identifies loci that influence ascites in broilers
AM Closter, MG Elferink, P Van As, R Crooijmans, MAM Groenen, ...
22010
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