Eamonn Sheridan

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

Detlef Böckenhauer, Sally Feather, Horia Stanescu et al. · New England Journal of Medicine · 2009 · 568 citations · Full text

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 · 365 citations

Mitochondrial Myopathy, Mitochondrial Calcium, Muscle Disorder +11

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 · 305 citations · Full text

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

Xiaohong R. Yang, David Ng, David A. Alcorta et al. · Nature Genetics · 2009 · 298 citations · Full text

Familial Chordoma, Genetic Disorder, Genetics +3

Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study

Eamonn Sheridan, John Wright, Neil Small et al. · The Lancet · 2013 · 263 citations

Developmental Anomaly, Multiethnic Birth Cohort, Bradford Study +13