John Christodoulou

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.

Trimethylaminuria: an under-recognised and socially debilitating metabolic disorder.

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine.

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.

Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype.

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.

Affective dysfunction in a mouse model of Rett syndrome: Therapeutic effects of environmental stimulation and physical activity.

The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome.

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.

Phenylketonuria: a review of current and future treatments.

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

RettBASE: Rett syndrome database update.

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing.

Rare disease: a national survey of paediatricians' experiences and needs.

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.

The phenotypic spectrum of germline variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.

A simple and efficient toolset for analysing mitochondrial trafficking in neuronal cells.

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.

Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency.

Disorders of riboflavin metabolism.

Biallelic variants in and cause deafness and (ovario)leukodystrophy.

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.

Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon.

Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets.

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

Whole exome sequencing reveals a de novo missense variant in in a Rett syndrome-like patient.

Reply: Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.

Parental health spillover effects of paediatric rare genetic conditions.

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

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).