Jennifer Wanders

Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene

Hans R. Waterham, Janet Koster, P. A. W. Mooyer et al. · The American Journal of Human Genetics · 2003 · 213 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

Identification of PEX7 as the Second Gene Involved in Refsum Disease

Daan M. van den Brink, Pedro Brites, Janet Haasjes et al. · The American Journal of Human Genetics · 2003 · 167 citations · Full text

Second Gene Involved, Genetics, Pathogenesis +6

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

Mark Depner, Sebastian Fuchs, Jan Raabe et al. · Journal of Clinical Immunology · 2015 · 137 citations · Full text

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

Rob Ofman, P.N. Jos Ruiter, Marike Feenstra et al. · The American Journal of Human Genetics · 2003 · 117 citations · Full text

Aldehyde Dehydrogenase, Mendelian Disorder, Biochemistry +11

Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations

Tie Zheng Hou, Nisha Verma, Jennifer Wanders et al. · Blood · 2017 · 99 citations · Full text