Concepedia

Nadia Schoenmakers

NS

Statistics

Publications

40

Citations

4.8K

H-Index

31

Active since

2008

Affiliations

University of Cambridge(Current)

Addenbrooke's Hospital

Wellcome Trust

Wellcome/MRC Institute of Metabolic Science

Medical Research Council

Nadia Schoenmakers is an author at University of Cambridge specializing in genetics, life sciences, and endocrinology.

ORCID

Publications per year

2008–2023

40

Publications

40

The UK10K project identifies rare variants in health and disease

Josine L. Min, Jie Huang, Yasin Memari et al. · Nature · 2015 · 1.2K citations · Full text

, , +17

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 · 385 citations · Full text

, , +17

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 · 310 citations · Full text

, , +17

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

, , +17

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu et al. · Nature Communications · 2016 · 259 citations · Full text

, , +16

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