Simple Repeat-Primed PCR Analysis of the Myotonic Dystrophy Type 1 Gene in a Clinical Diagnostics Environment

af Dryland, Philippa A., Doherty, Elaine, Love, Jennifer M., Love, Donald R.
Udgivet i J Neurodegener Dis (2013)

Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice

af Marquis-Nicholson, Renate, Prosser, Debra, Love, Jennifer M., Love, Donald R.
Udgivet i Microarrays (Basel) (2013)

A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Ana...

af Marquis-Nicholson, Renate, Lai, Daniel, Lan, Chuan-Ching, Love, Jennifer M., Love, Donald R.
Udgivet 2013

Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation

af Brookes, Clare, Prosser, Debra O., Love, Jennifer M., Gardner, R. J. McKinlay, Love, Donald R.
Udgivet 2013

Array-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis

af Marquis-Nicholson, Renate, Doherty, Elaine, Love, Jennifer M., Lan, Chuan-Ching, George, Alice M., Thrush, Anthony, Love, Donald R.
Udgivet 2013

Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia

af Nickerson, Sarah L., Balasubramaniam, Shanti, Dryland, Philippa A., Love, Jennifer M., Kava, Maina P., Love, Donald R., Prosser, Debra O.
Udgivet i J Pediatr Genet (2016)

A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities

af Singh, Shalinder, Ashton, Fern, Marquis-Nicholson, Renate, Love, Jennifer M., Lan, Chuan-Ching, Aftimos, Salim, George, Alice M., Love, Donald R.
Udgivet 2012

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

af Nickerson, Sarah L., Marquis-Nicholson, Renate, Claxton, Karen, Ashton, Fern, Leong, Ivone U. S., Prosser, Debra O., Love, Jennifer M., George, Alice M., Taylor, Graham, Wilson, Callum, McKinlay Gardner, R. J., Love, Donald R.
Udgivet i Microarrays (Basel) (2015)