Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency

Mutant Cohesin in Premature Ovarian Failure

Sandrine Caburet, Valerie A. Arboleda, Elena Llano et al. · New England Journal of Medicine · 2014 · 322 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Exomic variants of an elderly cohort of Brazilians in the ABraOM database

Michel Satya Naslavsky, Guilherme Lopes Yamamoto, Tatiana Ferreira de Almeida et al. · Human Mutation · 2017 · 289 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Whole‐exome sequencing identifies a homozygous donor splice‐site mutation in <i><scp>STAG3</scp></i> that causes primary ovarian insufficiency

Wenjie He, Santasree Banerjee, Juan Du et al. · Clinical Genetics · 2017 · 102 citations

Medicine, Genetics, Molecular Genetics +15

STAG3 truncating variant as the cause of primary ovarian insufficiency

Polona Le Quesne Stabej, Hywel Williams, Chela James et al. · European Journal of Human Genetics · 2015 · 85 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification of the first homozygous 1‐bp deletion in <i>GDF9</i> gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing

Mônica M. França, Mariana F.A. Funari, Mirian Yumie Nishi et al. · Clinical Genetics · 2017 · 64 citations · Full text

Life Sciences, Genetics, Gynecology +17