David Thorburn

Multi-omic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.

Guy Helman, Alison G Compton, Daniella H Hock, Marzena Walkiewicz, Gemma R Brett, Lynn Pais, Tiong Y Tan, Ricardo De Paoli-Iseppi, Michael B Clark, John Christodoulou, Susan M White, David R Thorburn, David A Stroud, Zornitza Stark, Cas Simons

Journal article  |  2020  |  Human Mutation

The diagnosis of Mendelian disorders following uninformative exome and genome sequencing remains a challenging and often unmet nee..

The expandingLARS2phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

Lisa G Riley, Joelle Rudinger-Thirion, Magali Frugier, Meredith Wilson, Melissa Luig, Thushari Indika Alahakoon, Cheng Yee Nixon, Edwin P Kirk, Tony Roscioli, Sebastian Lunke, Zornitza Stark, Klaas J Wierenga, Sirish Palle, Maie Walsh, Emily Higgs, Susan Arbuckle, Shalini Thirukeswaran, Alison G Compton, David R Thorburn, John Christodoulou

Journal article  |  2020  |  Human Mutation

LARS2 variants are associated with Perrault syndrome, characterized by premature ovarian failure and hearing loss, and with an inf..

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Ann E Frazier, Alison G Compton, Yoshihito Kishita, Daniella H Hock, AnneMarie E Welch, Sumudu SC Amarasekera, Rocio Rius, Luke E Formosa, Atsuko Imai-Okazaki, David Francis, Min Wang, Nicole J Lake, Simone Tregoning, Jafar S Jabbari, Alexis Lucattini, Kazuhiro R Nitta, Akira Ohtake, Kei Murayama, David J Amor, George McGillivray, et al.

Journal article  |  2020  |  Med

HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV

Daniella H Hock, Boris Reljic, Ching-Seng Ang, Linden Muellner-Wong, Hayley S Mountford, Alison G Compton, Michael T Ryan, David R Thorburn, David A Stroud

Journal article  |  2020  |  Molecular & Cellular Proteomics

Assembly factors play a critical role in the biogenesis of mitochondrial respiratory chain complexes I-IV where they assist in the..

RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.

Guy Helman, Alison Compton, Daniella Hock, Marzena Walkiewicz, Gemma Brett, Lynn Pais, Tiong Tan, Ricardo De Paoli-Iseppi, Michael Clark, John Christodoulou, Susan White, David Thorburn, David Stroud, Zornitza Stark, Cas Simons

Journal article  |  2020

The diagnosis of mitochondrial disorders remains a challenging and often unmet need. We sought to investigate a sibling pair with ..

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

Elena J Tucker, Rocio Rius, Sylvie Jaillard, Katrina Bell, Phillipa J Lamont, Andre Travessa, Juliette Dupont, Lurdes Sampaio, Jerome Dulon, Sandrine Vuillaumier-Barrot, Sandra Whalen, Arnaud Isapof, Tanya Stojkovic, Susana Quijano-Roy, Gorjana Robevska, Jocelyn van den Bergen, Chloe Hanna, Andrea Simpson, Katie Ayers, David R Thorburn, et al.

Journal article  |  2020  |  Human Genetics

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Andre E Minoche, Clare Puttick, David R Thorburn, Rocio Rius, Alison G Compton, Minal J Menezes, Kaustuv Bhattacharya, David Coman, Carolyn Ellaway, Ian E Alexander, Louisa Adams, Maina Kava, Jacqui Robinson, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou

Journal article  |  2020  |  Genetics in Medicine

Assessment of mitochondrial respiratory chain enzymes in cells and tissues.

Ann E Frazier, Amy E Vincent, Doug M Turnbull, David R Thorburn, Robert W Taylor

Book Chapter  |  2020  |  Methods in Cell Biology

Measurement of the individual enzymes involved in mitochondrial oxidative phosphorylation (OXPHOS) forms a key part of diagnostic ..

Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon

Rocio Rius, Mark J Cowley, Lisa Riley, Clare Puttick, David R Thorburn, John Christodoulou

Journal article  |  2019  |  Genetics in Medicine

PURPOSE: A recent report has raised the possibility of biparental mitochondrial DNA (mtDNA) inheritance, which could lead to conce..

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

Lauren S Akesson, Stefanie Eggers, Clare J Love, Belinda Chong, Emma I Krzesinski, Natasha J Brown, Tiong Y Tan, Christopher M Richmond, David R Thorburn, John Christodoulou, Matthew F Hunter, Sebastian Lunke, Zornitza Stark

Journal article  |  2019  |  European Journal of Human Genetics

Rapid genomic testing is a valuable new diagnostic tool for acutely unwell infants, however exome sequencing does not deliver clin..