Chloe Hanna

TP63‐truncating variants cause isolated premature ovarian insufficiency

Elena J. Tucker, Sylvie Jaillard, Sonia Grover et al. · Human Mutation · 2019 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Functional characterization of novel <i>NR5A1</i> variants reveals multiple complex roles in disorders of sex development

Gorjana Robevska, Jocelyn A. van den Bergen, Thomas Ohnesorg et al. · Human Mutation · 2017 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches

Brendan Backhouse, Chloe Hanna, Gorjana Robevska et al. · Sexual Development · 2018 · 44 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

Elena J. Tucker, Rocío Rius, Sylvie Jaillard et al. · Human Genetics · 2020 · 42 citations

Life Sciences, Genetics, Molecular Genetics +17

Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice

Elena J. Tucker, Sonia Grover, Gorjana Robevska et al. · European Journal of Human Genetics · 2018 · 41 citations

Medicine, Genetics, Gynecology +16