Angela F. Brady

The 2017 international classification of the Ehlers–Danlos syndromes

Fransiska Malfait, Clair A. Francomano, Peter H. Byers et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · 1.9K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Germline mutations in RAD51D confer susceptibility to ovarian cancer

Chey Loveday, Clare Turnbull, Emma Ramsay et al. · Nature Genetics · 2011 · 537 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 484 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations of <i>ARX</i> are associated with striking pleiotropy and consistent genotype–phenotype correlation

Mitsuhiro Kato, Soma Das, Kristin Petras et al. · Human Mutation · 2004 · 329 citations

Life Sciences, Genetics, Molecular Genetics +15