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Author Details

Alison G Compton
2003
48
27
PMIDPaper TitleJournal TitlePublished Year
37291213Integrated multi-omics for rapid rare disease diagnosis on a national scale.Nat Med2023
37148394Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.2023
36896486A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.Am J Med Genet A2023
37133451Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.Hum Mol Genet2023
34740920Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.J Med Genet2022
36101822Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.JIMD Rep2022
36030551Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.Hum Mutat2022
35433172Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.JIMD Rep2022
33169436Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.Hum Mutat2021
33575671Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus.Med2021
33924034Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.Genes (Basel)2021
32442335The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.Hum Mutat2020
32317297HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV.Molecular and Cellular Proteomics2020
32313153The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.Genet Med2020
30911575Leigh syndrome caused by mutations in <i>MTFMT</i> is associated with a better prognosis.Ann Clin Transl Neurol2019
31752325Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> Variants.J Clin Med2019
30558828Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.Mol Genet Metab2019
29233888Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology.Journal of Biological Chemistry2019
30981218A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.Hum Mutat2019
29625026Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.Am J Hum Genet2018
28777931Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.Am J Hum Genet2017
28549128ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.Brain2017
26506407Leigh syndrome: One disorder, more than 75 monogenic causes.Ann Neurol2016
27374774Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.Am J Hum Genet2016
25899669Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.American Journal of Medical Genetics, Part A2015
25504045Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.Hum Mol Genet2015
24462369A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.Am J Hum Genet2014
24266892Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome.Pediatr Int2014
24334290Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.Brain2014
24385928Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.PLoS Genet2013
23814038Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.Hum Mol Genet2013
22072591Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.Human Mutation2012
22277967Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.Sci Transl Med2012
22019594Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.Journal of Molecular Biology2011
20708716Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.Mitochondrion2011
21364701Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.Eur J Hum Genet2011
21766414The molecular basis of human complex I deficiency.IUBMB Life2011
21907147Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.Cell Metab2011
20446063Recent advances in the genetics of mitochondrial encephalopathies.Current Neurology and Neuroscience Reports2010
20818383High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.Nat Genet2010
20598274Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.Am J Hum Genet2010
18160674Diagnosis and etiology of congenital muscular dystrophy.Neurology2008
19026398Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.Am J Hum Genet2008
17897828Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.Neuromuscul Disord2008
18392839Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients.Acta Neuropathol2008
15835271The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders.J Neuropathol Exp Neurol2005
15135660Expression of aquaporin 1 in human cardiac and skeletal muscle.J Mol Cell Cardiol2004
12899872Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.Neuromuscul Disord2003
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