Statistics
Publications
20
Citations
5.6K
H-Index
18
Active since
2003
Deborah Ruddy is an author at University College London specializing in genetics, life sciences, and molecular genetics.
Publications per year
2003–2024
20
20
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Caroline Vance, Boris Rogelj, Tibor Hortobágyi et al. · Science · 2009 · 2.6K citations · Full text
Life Sciences, Genetics, Neurology +17
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
Whole-genome sequencing of patients with rare diseases in a national health system
Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text
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