List of works by Hayley S. Mountford

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

scientific article

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

scientific article published on August 2017

COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2

scientific article

Candidate gene variant effects on language disorders in Robinson Crusoe Island

scientific article published on 01 March 2019

Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy

scientific article published on 26 May 2020

De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features

scientific article published on 27 July 2010

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

scientific article

Genetic map construction and QTL mapping of resistance to blackleg (Leptosphaeria maculans) disease in Australian canola (Brassica napus L.) cultivars.

scientific article published on 11 October 2009

HIGD2A is required for assembly of the COX3 module of human mitochondrial complex IV

scientific article published on 21 April 2020

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

scientific article

Identification and characterization of simple sequence repeat (SSR) markers derived in silico from Brassica oleracea genome shotgun sequences

article

Identification and characterization of simple sequence repeat markers from Brassica napus expressed sequences

article

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

scientific article

Phenotypic variation ofTTC19-deficient mitochondrial complex III deficiency: A case report and literature review

article

Sixteen new simple sequence repeat markers fromBrassica junceaexpressed sequences and their cross-species amplification

article

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