Alison Compton

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

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..

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..

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 and 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 ..

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

PURPOSE: The utility of genome sequencing (GS) in the diagnosis of suspected pediatric mitochondrial disease (MD) was investigated..

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

Rocio Rius, Nicole J Van Bergen, Alison G Compton, Lisa G Riley, Maina P Kava, Shanti Balasubramaniam, David J Amor, Miriam Fanjul-Fernandez, Mark J Cowley, Michael C Fahey, Mary K Koenig, Gregory M Enns, Simon Sadedin, Meredith J Wilson, Tiong Y Tan, David R Thorburn, John Christodoulou

Journal article  |  2019  |  Journal of Clinical Medicine

PNPT1 (PNPase-polynucleotide phosphorylase) is involved in multiple RNA processing functions in the mitochondria. Bi-allelic patho..

Functional consequences of bi-allelic PNPT1 variants associated with multisystemic disease

R Rius, LG Riley, NJ Van Bergen, AG Compton, DJ Amor, M Kava, S Balasubramaniam, M Fanjul-Fernandez, M Cowley, M Fahey, TY Tan, DR Thorburn, J Christodoulou

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS