Andrew Colley

Molecular characterisation of <i>SMARCB1</i> and <i>NF2</i> in familial and sporadic schwannomatosis

Kristin Hadfield, William G. Newman, Naomi L. Bowers et al. · Journal of Medical Genetics · 2008 · 209 citations

Medicine, Genetics, Molecular Genetics +17

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

Mark R. Davis, Eric Haan, Heinz Jungbluth et al. · Neuromuscular Disorders · 2003 · 134 citations

Medicine, Genetics, Molecular Genetics +14

The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

Michael J. Dixon, Andrew Read, Dian Donnai et al. · PubMed · 1991 · 100 citations

Life Sciences, Genetics, Molecular Genetics +8

Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families.

Caroline Benjamin, Andrew Colley, Dian Donnai et al. · Journal of Medical Genetics · 1993 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

Mayada Tassabehji, T Strachan, Mike Sharland et al. · PubMed · 1993 · 88 citations

Life Sciences, Genetics, Molecular Genetics +14