Eamonn Sheridan

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

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and <i>KCNJ10</i> Mutations

Detlef Böckenhauer, Sally Feather, Horia Stanescu et al. · New England Journal of Medicine · 2009 · 580 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Clare V. Logan, György Szabadkai, Jenny A. Sharpe et al. · Nature Genetics · 2013 · 377 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Health and population effects of rare gene knockouts in adult humans with related parents

Vagheesh M. Narasimhan, Karen A. Hunt, Dan Mason et al. · Science · 2016 · 313 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

T (brachyury) gene duplication confers major susceptibility to familial chordoma

Xiaohong R. Yang, David Ng, David A. Alcorta et al. · Nature Genetics · 2009 · 304 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14