Polona Le Quesne Stabej

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

Polona Le Quesne Stabej, Zubin Saihan, Nell Rangesh et al. · Journal of Medical Genetics · 2011 · 177 citations · Full text

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

Lamia Mestek, Emma Clement, Wendy D. Jones et al. · Journal of Medical Genetics · 2018 · 129 citations · Full text

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Machteld M. Oud, Paul Tuijnenburg, Maja Hempel et al. · The American Journal of Human Genetics · 2017 · 100 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Carol-Anne Martin, Kata Sarlós, Clare V. Logan et al. · The American Journal of Human Genetics · 2018 · 94 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

Heather B. Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi et al. · Orphanet Journal of Rare Diseases · 2013 · 48 citations · Full text