David Thorburn

Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?

Cameron L McKnight, Yau Chung Low, David A Elliott, David R Thorburn, Ann E Frazier

Journal article  |  2021  |  INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Mitochondrial diseases disrupt cellular energy production and are among the most complex group of inherited genetic disorders. Aff..

Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation

You Wu, Shanti Balasubramaniam, Rocio Rius, David R Thorburn, John Christodoulou, Ilias Goranitis

Journal article  |  2021  |  EUROPEAN JOURNAL OF HUMAN GENETICS

The diagnostic and clinical benefits of genomic sequencing are being increasingly demonstrated across multiple rare genetic condit..

Biallelic IARS2 mutations presenting as sideroblastic anemia

Giulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, Zahra Assouline, Alessandra Pennisi, Claude Besmond, Charles-Joris Roux, Nathalie Boddaert, Isabelle Desguerre, David R Thorburn, Drago Bratkovic, Arnold Munnich, Jean-Paul Bonnefont, Agnes Rotig, Julie Steffann

Journal article  |  2021  |  HAEMATOLOGICA

Not available.

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

Rocio Rius, Alison G Compton, Naomi L Baker, AnneMarie E Welch, David Coman, Maina P Kava, Andre E Minoche, Mark J Cowley, David R Thorburn, John Christodoulou

Journal article  |  2021  |  GENES

Mitochondrial diseases can be caused by pathogenic variants in nuclear or mitochondrial DNA-encoded genes that often lead to multi..

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  |  2021  |  MED

Background: In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosi..

Recurrent de novo ATAD3 duplications cause fatal perinatal mitochondrial cardiomyopathy, persistent hyperlactacidemia, encephalopathy and heart-specific mitochondrial oxidative phosphorylation complex I deficiency.

AE Frazier, AG Compton, Y Kishita, DH Hock, AE Welch, SSC Amarasekera, R Rius, LE Formosa, A Imai-Okazaki, D Francis, M Wang, NJ Lake, S Tregoning, JS Jabbari, A Lucattini, R Nitta, A Ohtake, K Murayama, DJ Amor, G McGillivray, et al.

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction

Liesbeth TM Wintjes, Maina Kava, Frans A van den Brandt, Mariel AM van den Brand, Oksana Lapina, Yngve T Bliksrud, Mari A Kulseth, Silja S Amundsen, Terje R Selberg, Marion Ybema-Antoine, Omar AZ Tutakhel, Lawrence Greed, David R Thorburn, Trine Tangeraas, Shanti Balasubramaniam, Richard JT Rodenburg

Journal article  |  2020  |  HUMAN MUTATION

COX16 is involved in the biogenesis of cytochrome-c-oxidase (complex IV), the terminal complex of the mitochondrial respiratory ch..

Multiomic 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..

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

Perrault syndrome is a rare heterogeneous condition characterised by sensorineural hearing loss and premature ovarian insufficienc..

The expanding LARS2 phenotypic 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..