Martin  Elferink
Martin Elferink
UMC Utrecht
Verified email at umcutrecht.nl
Title
Cited by
Cited by
Year
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
1442014
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
1062008
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
1042015
Genome-wide linkage analysis to identify chromosomal regions affecting phenotypic traits in the chicken. II. Body composition
H Zhou, N Deeb, CM Evock-Clover, CM Ashwell, SJ Lamont
Poultry Science 85 (10), 1712-1721, 2006
882006
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
772015
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
732012
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), 1-14, 2012
692012
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
612018
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
482017
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
432010
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
302010
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
212015
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
182015
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
182012
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
142017
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
92016
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
72018
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
32021
Genome-wide association analysis identifies loci that influence ascites in broilers
AM Closter, MG Elferink, P Van As, R Crooijmans, MAM Groenen, ...
32010
Genetics-first approach improves diagnostics of ESKD patients younger than 50 years.
R Snoek, RH van Jaarsveld, TQ Nguyen, EDJ Peters, MG Elferink, ...
Nephrology, Dialysis, Transplantation: Official Publication of the European …, 2020
22020
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