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

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency

HUMAN GENETICS

IF3.6

2023-05-0613

OAAI

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.

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

HUMAN MOLECULAR GENETICS

IF3.2

2023-05-0317

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

COX11的双等位基因致病变异与婴儿型线粒体脑病相关

HUMAN MUTATION

IF3.7

2022-09-076

OAAI

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

JOURNAL OF MEDICAL GENETICS

IF3.7

2021-11-0515

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

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

ATAD3位点反复重复引起的致命性围产期线粒体心力衰竭

MED

IF11.8

2021-01-0137

OAAI

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.

Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10

HUMAN MUTATION

IF3.7

2020-11-1120

OAAI

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

不断扩大的LARS2表型谱: HLASA，伴有脑白质营养不良的Perrault综合征和线粒体肌病

HUMAN MUTATION

IF3.7

2020-07-2724

HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV

MOLECULAR & CELLULAR PROTEOMICS

IF5.5

2020-07-0132

OAAI

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

基因组测序在疑似线粒体疾病的儿科队列中的诊断效用

GENETICS IN MEDICINE

IF6.2

2020-07-0150

OAAI

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

JOURNAL OF CLINICAL MEDICINE

IF2.9

2019-11-1926

OAAI

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (vol 6, pg 515, 2019)

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2019-04-170

OAAI

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

Alison G. Compton

个人简介

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