James O’Sullivan

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson et al. · Nature Genetics · 2014 · 591 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Germline Mutations in <i>SUFU</i> Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With <i>PTCH1</i> Mutations

Miriam J. Smith, Christian Beetz, Simon G. Williams et al. · Journal of Clinical Oncology · 2014 · 296 citations

Life Sciences, Genetics, Oncology +17

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 291 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

Miriam J. Smith, James O’Sullivan, Sanjeev S. Bhaskar et al. · Nature Genetics · 2013 · 257 citations

Life Sciences, Genetics, Neuroscience +12

Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation

Alexandre Bélot, Paul R. Kasher, Eleanor W. Trotter et al. · Arthritis & Rheumatism · 2013 · 198 citations · Full text

Life Sciences, Genetics, Immunology +17