Anu Bashamboo

Mutations in <i>NR5A1</i> Associated with Ovarian Insufficiency

Diana Lourenço, Raja Brauner, Lin Lin et al. · New England Journal of Medicine · 2009 · 389 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

Anu Bashamboo, Bruno Ferraz‐de‐Souza, Diana Lourenço et al. · The American Journal of Human Genetics · 2010 · 246 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Carol-Anne Martin, Ilyas Ahmad, Anna Klingseisen et al. · Nature Genetics · 2014 · 183 citations

Medicine, Genetics, Molecular Genetics +16

Loss-of-function mutation in <i>GATA4</i> causes anomalies of human testicular development

Diana Lourenço, Raja Brauner, Claire Nihoul‐Feketé et al. · Proceedings of the National Academy of Sciences · 2011 · 161 citations

Life Sciences, Genetics, Molecular Genetics +17

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Anu Bashamboo, Patricia A. Donohoue, Éric Vilain et al. · Human Molecular Genetics · 2016 · 131 citations · Full text

Medicine, Genetics, Molecular Genetics +17