Martin  Elferink
Martin Elferink
UMC Utrecht
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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
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), 1-9, 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
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
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
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
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
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
Regional differences in recombination hotspots between two chicken populations
MG Elferink, P van As, T Veenendaal, RPMA Crooijmans, MAM Groenen
BMC genetics 11 (1), 1-10, 2010
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
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
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
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
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
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
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
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
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
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
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
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