Martin Elferink - Concepedia

Author

Martin Elferink

Also Known As

Elferink, M.G., Elferink, Martin, M Elferink, M. Elferink, M. G. Elferink, M.G. Elferink, Martin Elferink, Martin G Elferink, Martin G. Elferink

Publications

1.3K

Citations

H-Index

Concepts

All Affiliations

University Medical Center Utrecht Wageningen University & Research Leiden University Medical Center Hendrix Genetics (Netherlands)Amsterdam UMC Location Vrije Universiteit Amsterdam

About

Martin Elferink is an author at University Medical Center Utrecht specializing in medicine, public health, and molecular diagnostics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	574
2	Public Health	5	5	156
3	Education	1	1	21
4	Engineering	1	1	39
5	Natural Sciences	1	1	94

Martin Elferink

Publications

1.1K

Citations

H-Index

Page 1

	Year	Citations
Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies Isaäc J. Nijman, Joris M. van Montfrans, Marlous Hoogstraat, Journal of Allergy and Clinical Immunology BioinformaticsAutoimmune DiseaseMedicineImmunodeficienciesNext-generation Sequencing	2013	160
Partial duplication of the PRLR and SPEF2 genes at the late feathering locus in chicken Martin Elferink, Amélie Vallée, A. Jungerius, BMC Genomics	2008	150
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study Diane Van Opstal, Merel C. van Maarle, Klaske D. Lichtenbelt, Genetics in Medicine	2017	114
Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability Anke P. Willems, Mehmet Gundogdu, Marlies Kempers, Journal of Biological Chemistry Somatic VariantMendelian DisorderGenetic DisorderGeneticsFragile X Spectrum	2017	104
Signatures of Selection in the Genomes of Commercial and Non-Commercial Chicken Breeds Martin Elferink, Hendrik‐Jan Megens, Addie Vereijken, PLoS ONE Selective SweepsGeneticsGenomicsGenomic SelectionAnimal Genetics	2012	94
Whole genome SNP discovery and analysis of genetic diversity in Turkey (Meleagris gallopavo) Muhammad Luqman Aslam, J.W.M. Bastiaansen, Martin Elferink, BMC Genomics	2012	90
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects Terry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, European Journal of Human Genetics Genetic TestingDiagnosisPathologyGenomicsResearch Ethics	2015	89
Regional differences in recombination hotspots between two chicken populations Martin Elferink, Pieter Van As, Tineke Veenendaal, BMC Genetics	2010	61
Genetics-first approach improves diagnostics of ESKD patients &lt;50 years old Rozemarijn Snoek, Richard H. van Jaarsveld, Tri Q. Nguyen, Nephrology Dialysis Transplantation	2020	52
Accurate detection of circulating tumor DNA using nanopore consensus sequencing Alessio Marcozzi, Myrthe Jager, Martin Elferink, npj Genomic Medicine EngineeringOxford Nanopore SequencingDna AnalysisPathologyMolecular Biology	2021	39

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