Nadia Schoenmakers

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Jie Huang, Bryan Howie, Shane McCarthy et al. · Nature Communications · 2015 · 374 citations · Full text

Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

Erik Schoenmakers, Maura Agostini, Catherine Mitchell et al. · Journal of Clinical Investigation · 2010 · 308 citations · Full text

Spermatogenesis, Genetics, Lipid Peroxidation +18

The UK10K project identifies rare variants in health and disease

Klaudia Walter, Josine L. Min, Jie Huang et al. · Kölner Universitäts PublikationsServer (Universität zu Köln) · 2015 · 299 citations · Full text

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Yu Sun, Beata Bąk, Nadia Schoenmakers et al. · Nature Genetics · 2012 · 215 citations · Full text

Developmental Biology, Mendelian Disorder, Central Hypothyroidism +9

2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism

Luca Persani, Georg Brabant, Mehul Dattani et al. · European Thyroid Journal · 2018 · 204 citations · Full text