Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

Por Al-Murrani, Amel, Ashton, Fern, Aftimos, Salim, George, Alice M., Love, Donald R.
Publicado em 2012

Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay

Por Mazzaschi, Roberto L., Ashton, Fern, Aftimos, Salim, George, Alice M., Love, Donald R.
Publicado em 2013

Microduplication of 3p26.3 Implicated in Cognitive Development

Por Te Weehi, Leah, Maikoo, Raj, Mc Cormack, Adrian, Mazzaschi, Roberto, Ashton, Fern, Zhang, Liangtao, George, Alice M., Love, Donald R.
Publicado em 2014

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

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

Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease

Por Whitford, Whitney, Hawkins, Isobel, Glamuzina, Emma, Wilson, Francessa, Marshall, Andrew, Ashton, Fern, Love, Donald R., Taylor, Juliet, Hill, Rosamund, Lehnert, Klaus, Snell, Russell G., Jacobsen, Jessie C.
Publicado no Cold Spring Harb Mol Case Stud (2017)

Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients

Por Mc Cormack, Adrian, Claxton, Karen, Ashton, Fern, Asquith, Philip, Atack, Edward, Mazzaschi, Roberto, Moverley, Paula, O’Connor, Rachel, Qorri, Methat, Sheath, Karen, Love, Donald R., George, Alice M.
Publicado no Mol Cytogenet (2016)

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

Por 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.
Publicado no Microarrays (Basel) (2015)