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Leigh syndrome: One disorder, more than 75 monogenic causes

Annals of neurology, 2016-02, Vol.79 (2), p.190-203

2016

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Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology

The Journal of biological chemistry, 2019-04, Vol.294 (14), p.5386-5395

2019

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Integrated multi-omics for rapid rare disease diagnosis on a national scale

Nature medicine, 2023-07, Vol.29 (7), p.1681-1691

2023

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A Longitudinal Study of the Relations Between Theory of Mind, Executive Function, and Lying in Children

Frontiers in psychology, 2021-12, Vol.12, p.766891-766891

2021

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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Nature genetics, 2010-10, Vol.42 (10), p.851-858

2010

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Children’s Reputation Management: Learning to Identify What Is Socially Valued and Acting Upon It

Current directions in psychological science : a journal of the American Psychological Society, 2021-08, Vol.30 (4), p.315-320

2021

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Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

Cell metabolism, 2011-09, Vol.14 (3), p.428-434

2011

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Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Brain (London, England : 1878), 2014-02, Vol.137 (Pt 2), p.366-379

2014

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A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

American journal of human genetics, 2014-02, Vol.94 (2), p.209-222

2014

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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

Science translational medicine, 2012-01, Vol.4 (118), p.118ra10

2012

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Vitamin D Supplementation During Statin Rechallenge in Patients With a History of Intolerance

The Annals of pharmacotherapy, 2021-06, Vol.55 (6), p.814-815

2021

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

Human mutation, 2020-08, Vol.41 (8), p.1425-1434

2020

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Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Human molecular genetics, 2013-11, Vol.22 (22), p.4460-4473

2013

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

Molecular & cellular proteomics, 2020-07, Vol.19 (7), p.1145-1160

2020

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Quantifying constraint in the human mitochondrial genome

Nature (London), 2024-10

2024

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Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease

Molecular and cellular biology, 2024-06, Vol.44 (6), p.226-244

2024

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Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

American journal of human genetics, 2016-07, Vol.99 (1), p.217-227

2016

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

Genetics in medicine, 2020-07, Vol.22 (7), p.1254-1261

2020

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

Human molecular genetics, 2023-07, Vol.32 (15), p.2441-2454

2023

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Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

American journal of human genetics, 2010-07, Vol.87 (1), p.52-59

2010

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

Journal of medical genetics, 2022-08, Vol.59 (8), p.748-758

2022

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Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

PLoS genetics, 2013, Vol.9 (12), p.e1004034-e1004034

2013

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Leigh syndrome: One disorder, more than 75 monogenic causes

Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology

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

Integrated multi-omics for rapid rare disease diagnosis on a national scale

A Longitudinal Study of the Relations Between Theory of Mind, Executive Function, and Lying in Children

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Children’s Reputation Management: Learning to Identify What Is Socially Valued and Acting Upon It

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

Vitamin D Supplementation During Statin Rechallenge in Patients With a History of Intolerance

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

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

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

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Quantifying constraint in the human mitochondrial genome

Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

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

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

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

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

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

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