Elaine Doherty

Fragile X Syndrome Testing and the Limitations Associated with Current Maternal Cell Contamination Testing Strategies

Philippa A. Dryland, Annet Damhuis, Douglas I. Rosendale, Kimberley Hughes, Elaine Doherty & Donald R. Love · Journal of Advances in Medicine and Medical Research · 2016

Aims: To assess the level of maternal cell contamination (MCC) that can be detected in the molecular determination of triplet repeat expansions in the FMR1 gene. Place and Duration of Study: Department of Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand...

Open access Research Article 10.9734/BJMMR/2016/28769

Myotonic Dystrophy: Accurately Scoring the Boundaries that Define Regions of Triplet Repeat Expansion Mutations

Philippa A. Dryland, Kimberley Hughes, Dug Yeo Han, Ann Aziz, Danqing Zhu, Elaine Doherty & Donald R. Love · Journal of Advances in Medicine and Medical Research · 2015

Aims: Myotonic Dystrophy type 1 (DM1) is an autosomal dominant neuromuscular multi-systemic disorder caused by a CTG triplet repeat expansion mutation in the DMPK gene. The clinical decision points defining the CTG repeat boundaries between normal, premutation and mild disease ra...

Open access Research Article 10.9734/BJMMR/2015/18303