Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Alison G, Compton"'
Autor:
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
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 391-399 (2022)
Abstract Biallelic pathogenic variants in NDUFS8, a nuclear gene encoding a subunit of mitochondrial complex I, result in a mitochondrial disorder characterized by varying clinical presentations and severity. Here, we expand the neuroimaging and clin
Externí odkaz:
https://doaj.org/article/5e92826c8aaa46bd8ced6c614e9e01de
Autor:
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
Publikováno v:
JIMD Reports, Vol 63, Iss 3, Pp 240-249 (2022)
Abstract Variants of uncertain significance (VUS) are commonly found following genomic sequencing, particularly in ethnically diverse populations that are underrepresented in large population databases. Functional characterization of VUS may assist i
Externí odkaz:
https://doaj.org/article/b096ed78eb604ff08a47d2a4cab9b501
Autor:
Sharmila Kiss, John Christodoulou, David R. Thorburn, Jeremy L. Freeman, Andrew J. Kornberg, Simone Mandelstam, Alison G. Compton, Beryl Cummings, Lynn Pais, Joy Yaplito‐Lee, Susan M. White
Publikováno v:
American Journal of Medical Genetics Part A. 191:1599-1606
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f473b2026226c74e775137fc15a02b8
https://doi.org/10.1002/ajmg.a.63170
https://doi.org/10.1002/ajmg.a.63170
Autor:
Rocio Rius, Neal K. Bennett, Kaustuv Bhattacharya, Lisa G. Riley, Zafer Yüksel, 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
Publikováno v:
Human Mutation. 43:1970-1978
Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphorylation (OXPHOS) defects. COX11 encodes a copper chaperone that participates in the assembly of complex IV and has not b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9e11260540fcdf4132eee665d92873d
https://doi.org/10.1002/humu.24453
https://doi.org/10.1002/humu.24453
Autor:
Shabnam Bakhshalizadeh, Daniella H. Hock, Nicole A. Siddall, Brianna L. Kline, Rajini Sreenivasan, Katrina M. Bell, Franca Casagranda, Sadishkumar Kamalanathan, Jayaprakash Sahoo, Niya Narayanan, Dukhabandhu Naik, Varun Suryadevara, Alison G. Compton, Sumudu S. C. Amarasekera, Ridam Kapoor, Sylvie Jaillard, Andrea Simpson, Gorjana Robevska, Jocelyn van den Bergen, Svenja Pachernegg, Katie L. Ayers, David R. Thorburn, David A. Stroud, Gary R. Hime, Andrew H. Sinclair, Elena J. Tucker
Publikováno v:
Human Genetics.
Premature ovarian insufficiency (POI) is a common cause of infertility in women, characterised by amenorrhea and elevated FSH under the age of 40 years. In some cases, POI is syndromic in association with other features such as sensorineural hearing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c33a27deba34546e5f44fbbc71ef915
https://doi.org/10.1007/s00439-023-02563-z
https://doi.org/10.1007/s00439-023-02563-z
Autor:
Sumudu S C Amarasekera, Daniella H Hock, Nicole J Lake, Sarah E Calvo, Sabine W Grønborg, Emma I Krzesinski, David J Amor, Michael C Fahey, Cas Simons, Flemming Wibrand, Vamsi K Mootha, Monkol Lek, Sebastian Lunke, Zornitza Stark, Elsebet Østergaard, John Christodoulou, David R Thorburn, David A Stroud, Alison G Compton
Publikováno v:
Human Molecular Genetics.
MRPL39 encodes one of 52 proteins comprising the large subunit of the mitochondrial ribosome (mitoribosome). In conjunction with 30 proteins in the small subunit, the mitoribosome synthesizes the 13 subunits of the mitochondrial oxidative phosphoryla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::816fde7086f5cb842c879e453a664cc4
https://doi.org/10.1093/hmg/ddad069
https://doi.org/10.1093/hmg/ddad069
Autor:
Nicole J. Lake, Wei Liu, Stephanie L. Battle, Kristen M. Laricchia, Grace Tiao, Daniela Puiu, Alison G. Compton, Shannon Cowie, John Christodoulou, David R. Thorburn, Hongyu Zhao, Dan E. Arking, Shamil R. Sunyaev, Monkol Lek
Mitochondrial DNA (mtDNA) has an important, yet often overlooked, role in health and disease. Constraint models quantify the removal of deleterious variation from the population by selection, representing a powerful tool for identifying genetic varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f932b4885692cdddec5d7f0db2a2e5fb
https://doi.org/10.1101/2022.12.16.520778
https://doi.org/10.1101/2022.12.16.520778
Autor:
Simon Sadedin, Alison Yeung, Natasha J Brown, David S. Francis, Katrina M. Bell, David R. Thorburn, Lyndon Gallacher, Justine Elliott, Michelle G. de Silva, Alysia Lovgren, Lilian Downie, Anne H. O’Donnell-Luria, Chloe A Stutterd, Sze Chern Lim, George McGillivray, Martin B. Delatycki, Zornitza Stark, Thomas Cloney, John Christodoulou, Tiong Yang Tan, Susan M. White, Lynn Pais, Cas Simons, Daniel G. MacArthur, Ralph Oertel, Alison G. Compton, Guy Helman, Natalie B Tan
Publikováno v:
J Med Genet
BackgroundClinical exome sequencing typically achieves diagnostic yields of 30%–57.5% in individuals with monogenic rare diseases. Undiagnosed diseases programmes implement strategies to improve diagnostic outcomes for these individuals.AimWe share
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca73f191cc970a16feab466941b8d511
https://doi.org/10.1136/jmedgenet-2021-107902
https://doi.org/10.1136/jmedgenet-2021-107902
Autor:
Michael B. Clark, Tiong Yang Tan, Ricardo De Paoli-Iseppi, Cas Simons, John Christodoulou, David A. Stroud, Daniella H Hock, Zornitza Stark, Lynn Pais, Gemma R Brett, Guy Helman, Marzena Walkiewicz, David R. Thorburn, Susan M. White, Alison G. Compton
Publikováno v:
Hum Mutat
The diagnosis of Mendelian disorders following uninformative exome and genome sequencing remains a challenging and often unmet need. Following uninformative exome and genome sequencing of a family quartet including two siblings with suspected mitocho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ded21914a7eabc9925c04f0a2e9751
https://doi.org/10.1002/humu.24135
https://doi.org/10.1002/humu.24135
Autor:
David Coman, Minal Menezes, Louisa Adams, Shanti Balasubramaniam, Carolyn M. Sue, Carolyn Ellaway, Lisa G. Riley, Mark J. Cowley, David R. Thorburn, Clare Puttick, Rocio Rius, André E. Minoche, Maina P. Kava, Velimir Gayevskiy, Ian E. Alexander, Jacqui Robinson, Kaustuv Bhattacharya, John Christodoulou, Alison G. Compton
Publikováno v:
Genetics in Medicine. 22:1254-1261
Purpose: The utility of genome sequencing (GS) in the diagnosis of suspected pediatric mitochondrial disease (MD) was investigated. Methods: An Australian cohort of 40 pediatric patients with clinical features suggestive of MD were classified using t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54a2fbb1c88badb96f645e7aa52037d5
https://doi.org/10.1038/s41436-020-0793-6
https://doi.org/10.1038/s41436-020-0793-6