Dr Alison G Compton

Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy

Rocio Rius, Neal K Bennett, Kaustuv Bhattacharya, Lisa G Riley, Zafer Yuksel, Luke E Formosa, Alison G Compton, Russell C Dale, Mark J Cowley, Velimir Gayevskiy, Saeed M Al Tala, Abdulrahman A Almehery, Michael T Ryan, David R Thorburn, Ken Nakamura, John Christodoulou

Journal article  |  2022  |  HUMAN MUTATION

Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphor..

Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.

Milena M Andzelm, Shanti Balasubramaniam, Edward Yang, Alison G Compton, Kate Millington, Jia Zhu, Irina Anselm, Lance H Rodan, David R Thorburn, John Christodoulou, Siddharth Srivastava

Journal article  |  2022  |  JIMD Rep

Biallelic pathogenic variants in NDUFS8, a nuclear gene encoding a subunit of mitochondrial complex I, result in a mitochondrial d..

Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.

Lauren S Akesson, Rocio Rius, Natasha J Brown, Jeremy Rosenbaum, Sarah Donoghue, Michael Stormon, Charmaine Chai, Esmeralda Bordador, Yiran Guo, Hakon Hakonarson, Alison G Compton, David R Thorburn, Sumudu Amarasekera, Justine Marum, Alisha Monaco, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornitza Stark, John Christodoulou

Journal article  |  2022  |  JIMD Rep

Variants of uncertain significance (VUS) are commonly found following genomic sequencing, particularly in ethnically diverse popul..

Mainstreaming proteomics into rare disease diagnostics

Daniella H Hock, Alison G Compton, Sumudu SC Amarasekera, Ann E Frazier, Guy Helman, Nicole J Lake, Liana N Semcesen, Zornitza Stark, Monkol Lek, Cas Simons, John Christodoulou, David R Thorburn, David A Stroud

Journal article  |  2022  |  Pathology

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Mohammad Al-Shinnag, Stephen Alexander, Alison D Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J Brown, Samantha J Bryen, Michael F Buckley, Belinda Chong, Mark R Davis, Ruebena Dawes, Martin Delatycki, et al.

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genet..

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program

Thomas Cloney, Lyndon Gallacher, Lynn S Pais, Natalie B Tan, Alison Yeung, Zornitza Stark, Natasha J Brown, George McGillivray, Martin B Delatycki, Michelle G de Silva, Lilian Downie, Chloe A Stutterd, Justine Elliott, Alison G Compton, Alysia Lovgren, Ralph Oertel, David Francis, Katrina M Bell, Simon Sadedin, Sze Chern Lim, et al.

Journal article  |  2021  |  JOURNAL OF MEDICAL GENETICS

BACKGROUND: Clinical exome sequencing typically achieves diagnostic yields of 30%-57.5% in individuals with monogenic rare disease..

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..