Hayley S. Mountford

Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

Pleasantine Mill, Paul J. Lockhart, Elizabeth Fitzpatrick et al. · The American Journal of Human Genetics · 2011 · 168 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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

Radha Desai, Ann E. Frazier, Romina Durigon et al. · Brain · 2017 · 162 citations · Full text

Life Sciences, Genetics, Neurology +14

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

Nicole J. Lake, Bryn D. Webb, David A. Stroud et al. · The American Journal of Human Genetics · 2017 · 126 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

Elena J. Tucker, Bas F.J. Wanschers, Radek Szklarczyk et al. · PLoS Genetics · 2013 · 118 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

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

David A. Stroud, Megan J. Maher, Caroline Lindau et al. · Human Molecular Genetics · 2015 · 105 citations · Full text

Life Sciences, Genetics, Molecular Biology +17