Beverley Anderson

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 589 citations · Full text

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 · 582 citations · Full text

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 · 294 citations

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

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 285 citations · Full text

Chromatin, Genome Instability, Cause Coats +9

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

Jill Clayton‐Smith, James O’Sullivan, Sarah B. Daly et al. · The American Journal of Human Genetics · 2011 · 181 citations · Full text

Chromatin, Say-barber-biesecker Variant, Whole-exome-sequencing Identifies Mutations +8