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List of works by Lonneke Haer-Wigman

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.

scientific article published on 11 December 2017

Comprehensive genotyping for 18 blood group systems using a multiplex ligation-dependent probe amplification assay shows a high degree of accuracy

scientific article published on 29 August 2013

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

scientific article

Frequency and characterization of known and novel RHD variant alleles in 37 782 Dutch D-negative pregnant women.

scientific article

Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

scientific article

Impact of genetic variation in the SMIM1 gene on Vel expression levels

scientific article published on 3 February 2015

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

scientific article published on 25 April 2017

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility ⬇️

scientific article

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

scientific article published on 9 April 2015

Novel alleles at the Kell blood group locus that lead to Kell variant phenotype in the Dutch population

scientific article published on 25 August 2014

RHD and RHCE variant and zygosity genotyping via multiplex ligation-dependent probe amplification

scientific article

SMIM1 underlies the Vel blood group and influences red blood cell traits

scientific article

Validation of the multiplex ligation-dependent probe amplification assay and its application on the distribution study of the major alleles of 17 blood group systems in Chinese donors from Guangzhou

scientific article published on 27 November 2016

Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa

scientific article published on 19 December 2017

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