Martin Elferink

Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies

Isaäc J. Nijman, Joris M. van Montfrans, Marlous Hoogstraat et al. · Journal of Allergy and Clinical Immunology · 2013 · 160 citations

Bioinformatics, Autoimmune Disease, Medicine +12

Partial duplication of the PRLR and SPEF2 genes at the late feathering locus in chicken

Martin Elferink, Amélie Vallée, A. Jungerius et al. · BMC Genomics · 2008 · 150 citations · Full text

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 et al. · Genetics in Medicine · 2017 · 114 citations · Full text

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

Anke P. Willems, Mehmet Gundogdu, Marlies Kempers et al. · Journal of Biological Chemistry · 2017 · 104 citations · Full text

Somatic Variant, Mendelian Disorder, Genetic Disorder +7

Signatures of Selection in the Genomes of Commercial and Non-Commercial Chicken Breeds

Martin Elferink, Hendrik‐Jan Megens, Addie Vereijken et al. · PLoS ONE · 2012 · 94 citations · Full text

Selective Sweeps, Genetics, Genomics +21