Caroline Pottinger

Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study

Tommy Nyberg, Debra Frost, Daniel Barrowdale et al. · European Urology · 2019 · 230 citations · Full text

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 214 citations

Genetics, Genetic Epidemiology, Pathology +20

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

Margot E. Bowen, Eric D. Boyden, Ingrid A. Holm et al. · PLoS Genetics · 2011 · 165 citations · Full text

Multiple Enchondromatosis Syndromes, Genetics, Pathology +17

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 127 citations · Full text

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Clare V. Logan, Barbara Lucke, Caroline Pottinger et al. · Nature Genetics · 2011 · 110 citations

Developmental Biology, Disease Mechanism, Genetic Disorder +10