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Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing Ball, Megan; Bouffer, Sophie E.; Barnett, Christopher B.; Freckmann, Mary-Louise; Hunter, Matthew F.; Kamien, Benjamin; Kassahn, Karin S.; Lunke, Sebastian; Patel, Chirag, V; Pinner, Jason; Roscioli, Tony; Sandaradura, Sarah A.; Scott, Hamish S.; Tan, Tiong Y.; Wallis, Mathew; Compton, Alison G.; Thorburn, David R.; Stark, Zornitza; Christodoulou, John Share Save
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population Bernhardt, Isaac; Frajman, Leah E.; Ryder, Bryony; Andersen, Erik; Wilson, Callum; Mckeown, Colina; Anderson, Tim; Coman, David; Vincent, Andrea L.; Buchanan, Christina; Roxburgh, Richard; Pitt, James; De Hora, Mark; Christodoulou, John; Thorburn, David R.; Wilson, Francessa; Drake, Kylie M.; Leask, Megan; Yardley, Anne-Marie; Merriman, Tony; Robertson, Stephen; Compton, Alison G.; Glamuzina, Emma Share Save
Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease Crameri, Jordan J.; Palmer, Catherine S.; Stait, Tegan; Jackson, Thomas D.; Lynch, Matthew; Sinclair, Adriane; Frajman, Leah E.; Compton, Alison G.; Coman, David; Thorburn, David R.; Frazier, Ann E.; Stojanovski, Diana Share Save
Integrated multi-omics for rapid rare disease diagnosis on a national scale Lunke, Sebastian; Bouffler, Sophie. E. E.; Patel, Chirag. V. V.; Sandaradura, Sarah. A. A.; Wilson, Meredith; Pinner, Jason; Hunter, Matthew. F. F.; Barnett, Christopher. P. P.; Wallis, Mathew; Kamien, Benjamin; Tan, Tiong. Y. Y.; Freckmann, Mary-Louise; Chong, Belinda; Phelan, Dean; Francis, David; Kassahn, Karin. S. S.; Ha, Thuong; Gao, Song; Arts, Peer; Jackson, Matilda. R. S. R.; Scott, Hamish. S. S.; Eggers, Stefanie; Rowley, Simone; Boggs, Kirsten; Rakonjac, Ana; Brett, Gemma. R. R.; de Silva, Michelle. G. G.; Springer, Amanda; Ward, Michelle; Stallard, Kirsty; Simons, Cas; Conway, Thomas; Halman, Andreas; Van Bergen, Nicole. J. J.; Sikora, Tim; Semcesen, Liana. N. N.; Stroud, David. A. A.; Compton, Alison. G. G.; Thorburn, David. R. R.; Bell, Katrina. M. M.; Sadedin, Simon; North, Kathryn. N. N.; Christodoulou, John; Stark, Zornitza Share Save
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency Bakhshalizadeh, Shabnam; Hock, Daniella. H. H.; Siddall, Nicole. A. A.; Kline, Brianna. L. L.; Sreenivasan, Rajini; Bell, Katrina. M. M.; Casagranda, Franca; Kamalanathan, Sadishkumar; Sahoo, Jayaprakash; Narayanan, Niya; Naik, Dukhabandhu; Suryadevara, Varun; Compton, Alison. G. G.; Amarasekera, Sumudu S. C.; Kapoor, Ridam; Jaillard, Sylvie; Simpson, Andrea; Robevska, Gorjana; van den Bergen, Jocelyn; Pachernegg, Svenja; Ayers, Katie. L. L.; Thorburn, David. R. R.; Stroud, David. A. A.; Hime, Gary. R. R.; Sinclair, Andrew. H. H.; Tucker, Elena. J. J. Share Save
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease Amarasekera, Sumudu S. C.; Hock, Daniella H.; Lake, Nicole J.; Calvo, Sarah E.; Gronborg, Sabine W.; Krzesinski, Emma, I; Amor, David J.; Fahey, Michael C.; Simons, Cas; Wibrand, Flemming; Mootha, Vamsi K.; Lek, Monkol; Lunke, Sebastian; Stark, Zornitza; ostergaard, Elsebet; Christodoulou, John; Thorburn, David R.; Stroud, David A.; Compton, Alison G. Share Save
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy Rius, Rocio; Bennett, Neal K.; Bhattacharya, Kaustuv; Riley, Lisa G.; Yuksel, Zafer; Formosa, Luke E.; Compton, Alison G.; Dale, Russell C.; Cowley, Mark J.; Gayevskiy, Velimir; Al Tala, Saeed M.; Almehery, Abdulrahman A.; Ryan, Michael T.; Thorburn, David R.; Nakamura, Ken; Christodoulou, John Share Save
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program Cloney, Thomas; Gallacher, Lyndon; Pais, Lynn S.; Tan, Natalie B.; Yeung, Alison; Stark, Zornitza; Brown, Natasha J.; McGillivray, George; Delatycki, Martin B.; de Silva, Michelle G.; Downie, Lilian; Stutterd, Chloe A.; Elliott, Justine; Compton, Alison G.; Lovgren, Alysia; Oertel, Ralph; Francis, David; Bell, Katrina M.; Sadedin, Simon; Lim, Sze Chern; Helman, Guy; Simons, Cas; Macarthur, Daniel G.; Thorburn, David R.; O'Donnell-Luria, Anne H.; Christodoulou, John; White, Susan M.; Tan, Tiong Yang Share Save
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus Frazier, Ann E.; Compton, Alison G.; Kishita, Yoshihito; Hock, Daniella H.; Welch, AnneMarie E.; Amarasekera, Sumudu S. C.; Rius, Rocio; Formosa, Luke E.; Imai-Okazaki, Atsuko; Francis, David; Wang, Min; Lake, Nicole J.; Tregoning, Simone; Jabbari, Jafar S.; Lucattini, Alexis; Nitta, Kazuhiro R.; Ohtake, Akira; Murayama, Kei; Amor, David J.; McGillivray, George; Wong, Flora Y.; van der Knaap, Marjo S.; Vermeulen, R. Jeroen; Wiltshire, Esko J.; Fletcher, Janice M.; Lewis, Barry; Baynam, Gareth; Ellaway, Carolyn; Balasubramaniam, Shanti; Bhattacharya, Kaustuv; Freckmann, Mary-Louise; Arbuckle, Susan; Rodriguez, Michael; Taft, Ryan J.; Sadedin, Simon; Cowley, Mark J.; Minoche, Andre E.; Calvo, Sarah E.; Mootha, Vamsi K.; Ryan, Michael T.; Okazaki, Yasushi; Stroud, David A.; Simons, Cas; Christodoulou, John; Thorburn, David R. Share Save
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10 Helman, Guy; Compton, Alison G.; Hock, Daniella H.; Walkiewicz, Marzena; Brett, Gemma R.; Pais, Lynn; Tan, Tiong Y.; De Paoli-Iseppi, Ricardo; Clark, Michael B.; Christodoulou, John; White, Susan M.; Thorburn, David R.; Stroud, David A.; Stark, Zornitza; Simons, Cas Share Save
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy Riley, Lisa G.; Rudinger-Thirion, Joelle; Frugier, Magali; Wilson, Meredith; Luig, Melissa; Alahakoon, Thushari Indika; Nixon, Cheng Yee; Kirk, Edwin P.; Roscioli, Tony; Lunke, Sebastian; Stark, Zornitza; Wierenga, Klaas J.; Palle, Sirish; Walsh, Maie; Higgs, Emily; Arbuckle, Susan; Thirukeswaran, Shalini; Compton, Alison G.; Thorburn, David R.; Christodoulou, John Share Save
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The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease Riley, Lisa G.; Cowley, Mark J.; Gayevskiy, Velimir; Minoche, Andre E.; Puttick, Clare; Thorburn, David R.; Rius, Rocio; Compton, Alison G.; Menezes, Minal J.; Bhattacharya, Kaustuv; Coman, David; Ellaway, Carolyn; Alexander, Ian E.; Adams, Louisa; Kava, Maina; Robinson, Jacqui; Sue, Carolyn M.; Balasubramaniam, Shanti; Christodoulou, John Share Save
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants Rius, Rocio; Van Bergen, Nicole J.; Compton, Alison G.; Riley, Lisa G.; Kava, Maina P.; Balasubramaniam, Shanti; Amor, David J.; Fanjul-Fernandez, Miriam; Cowley, Mark J.; Fahey, Michael C.; Koenig, Mary K.; Enns, Gregory M.; Sadedin, Simon; Wilson, Meredith J.; Tan, Tiong Y.; Thorburn, David R.; Christodoulou, John Share Save
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (vol 6, pg 515, 2019) Hayhurst, Hannah; de Coo, Irenaeus F. M.; Piekutowska-Abramczuk, Dorota; Alston, Charlotte L.; Sharma, Sunil; Thompson, Kyle; Rius, Rocio; He, Langping; Hopton, Sila; Ploski, Rafal; Ciara, Elzbieta; Lake, Nicole J.; Compton, Alison G.; Delatycki, Martin B.; Verrips, Aad; Bonnen, Penelope E.; Jones, Simon A.; Morris, Andrew A.; Shakespeare, David; Christodoulou, John; Wesol-Kucharska, Dorota; Rokicki, Dariusz; Smeets, Hubert J. M.; Pronicka, Ewa; Thorburn, David R.; Gorman, Grainne S.; McFarland, Robert; Taylor, Robert W.; Ng, Yi Shiau Share Save
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant Lake, Nicole J.; Formosa, Luke E.; Stroud, David A.; Ryan, Michael T.; Calvo, Sarah E.; Mootha, Vamsi K.; Morar, Bharti; Procopis, Peter G.; Christodoulou, John; Compton, Alison G.; Thorburn, David R. Share Save
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