Lonneke Haer‐Wigman

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Lonneke Haer‐Wigman, Wendy AG van Zelst-Stams, Rolph Pfundt et al. · European Journal of Human Genetics · 2017 · 151 citations · Full text

Medicine, Genetics, Molecular Genetics +15

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

Ana Cvejic, Lonneke Haer‐Wigman, Jonathan Stephens et al. · Nature Genetics · 2013 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

1 in 38 individuals at risk of a dominant medically actionable disease

Lonneke Haer‐Wigman, Vyne van der Schoot, Ilse Feenstra et al. · European Journal of Human Genetics · 2018 · 82 citations · Full text

Medicine, Internal Medicine, Human Genetics +9

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

Lonneke Haer‐Wigman, Horatio Hackett Newman, Rina Leibu et al. · Human Molecular Genetics · 2015 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i><scp>RHD</scp></i> and <i><scp>RHCE</scp></i> variant and zygosity genotyping via multiplex ligation–dependent probe amplification

Lonneke Haer‐Wigman, Barbera Veldhuisen, Remco Jonkers et al. · Transfusion · 2012 · 62 citations

Life Sciences, Genetics, Molecular Genetics +17