Publications by authors named "Fern Ashton"

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Compound heterozygous mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.
Whitney Whitford, Isobel Hawkins, Emma Glamuzina, Francessa Wilson, Andrew Marshall, Fern Ashton

Cold Spring Harb Mol Case Stud· November 2017

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Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.
Adrian Mc Cormack, Karen Claxton, Fern Ashton, Philip Asquith, Edward Atack

Mol Cytogenet· April 2016

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SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.
Sarah L Nickerson, Renate Marquis-Nicholson, Karen Claxton, Fern Ashton, Ivone U S Leong

Microarrays (Basel)· October 2015

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Microduplication of 3p26.3 implicated in cognitive development.
Leah Te Weehi, Raj Maikoo, Adrian Mc Cormack, Roberto Mazzaschi, Fern Ashton

Case Rep Genet· April 2014

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The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.
Richard H Roxburgh, Renate Marquis-Nicholson, Fern Ashton, Alice M George, Rod A Lea

J Neurol· May 2013

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Developmental delay referrals and the roles of Fragile X testing and molecular karyotyping: a New Zealand perspective.
Elaine Doherty, Rachel O'Connor, Anna Zhang, Christina Lim, Jennifer M Love, Fern Ashton

Mol Med Rep· May 2013

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Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay.
Roberto L Mazzaschi, Fern Ashton, Salim Aftimos, Alice M George, Donald R Love

Sultan Qaboos Univ Med J· May 2013

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A novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilities.
Shalinder Singh, Fern Ashton, Renate Marquis-Nicholson, Jennifer M Love, Chuan-Ching Lan

Case Rep Pediatr· December 2012

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Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay.
Amel Al-Murrani, Fern Ashton, Salim Aftimos, Alice M George, Donald R Love

Case Rep Genet· October 2012

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Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes.
Renate Marquis-Nicholson, Salim Aftimos, Fern Ashton, Jennifer M Love, Peter Stone

Gene· October 2011

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Distal 5q deletion with associated parietal foramina.
Salim Aftimos, Phillip Asquith, Fern Ashton, Oliver Vasilevski, Donald R Love

Clin Dysmorphol· January 2010

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Mutations within the protein Z-dependent protease inhibitor gene are associated with venous thromboembolic disease: a new form of thrombophilia.
Neil Van de Water, Tina Tan, Fern Ashton, Anna O'Grady, Tony Day

Br J Haematol· October 2004

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