Catherine S. Choong

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen et al. · Genome biology · 2016 · 397 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Gigantism and Acromegaly Due to Xq26 Microduplications and <i>GPR101</i> Mutation

Giampaolo Trivellin, Adrian Daly, Fábio R. Faucz et al. · New England Journal of Medicine · 2014 · 339 citations · Full text

Medicine, Endocrinology, Genetics +15

Reduced androgen receptor gene expression with first exon CAG repeat expansion.

Catherine S. Choong, J A Kemppainen, Zhongxiang Zhou et al. · Molecular Endocrinology · 1996 · 300 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients

Liliya Rostomyan, Adrian Daly, Patrick Pétrossians et al. · Endocrine Related Cancer · 2015 · 202 citations · Full text

Medicine, Endocrinology, Endocrine Genetics +16

Extending the phenotypes associated with<i>DICER1</i>mutations

William D. Foulkes, Amin Bahubeshi, Nancy Hamel et al. · Human Mutation · 2011 · 201 citations

Medicine, Genetics, Molecular Genetics +17