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Author Details

John Christodoulou
University of Melbourne, The Royal Children's Hospital
1969
445
69
PMIDPaper TitleJournal TitlePublished Year
38038360Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.Brain2024
37899549De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype.Clin Genet2024
36305855Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.Genet Med2023
37628658Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.Genes (Basel)2023
37291213Integrated multi-omics for rapid rare disease diagnosis on a national scale.Nat Med2023
37415831Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?Pharmgenomics Pers Med2023
37249002DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variants.Epigenomics2023
36982264Morphology-Dependent Interactions between α-Synuclein Monomers and Fibrils.Int J Mol Sci2023
37240774Biophysical Interactions Underpin the Emergence of Information in the Genetic Code.Life (Basel)2023
37272928Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.Genet Med2023
37133451Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.Hum Mol Genet2023
37471493The collective burden of childhood dementia: a scoping review.Brain2023
37263770Storing paediatric genomic data for sequential interrogation across the lifespan.J Med Ethics2023
37092873Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease.Pediatr Blood Cancer2023
36653598Australian children living with rare diseases: health service use and barriers to accessing care.World J Pediatr2023
36651519MOGS-CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub> Man tetrasaccharide and clinical spectrum of six new cases.J Inherit Metab Dis2023
36834994Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.Int J Mol Sci2023
36868206Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.Am J Hum Genet2023
36567227Drosophila as a diet discovery tool for treating amino acid disorders.Trends Endocrinol Metab2023
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
36939042Microcosting diagnostic genomic sequencing: A systematic review.Genet Med2023
36823193TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.Nat Commun2023
36757831The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.Brain2023
36698452Expanding the Allelic Heterogeneity of <i>ANO10</i>-Associated Autosomal Recessive Cerebellar Ataxia.Neurol Genet2023
36450801LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.Eur J Hum Genet2023
34099885Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation.Eur J Hum Genet2022
35546650Expression, Purification, Characterization and Cellular Uptake of MeCP2 Variants.Protein J2022
35641312Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.Neurology2022
35433172Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.JIMD Rep2022
35460749TAT-MeCP2 protein variants rescue disease phenotypes in human and mouse models of Rett syndrome.Int J Biol Macromol2022
35395208Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.Am J Hum Genet2022
35390638Thermodynamics of co-translational folding and ribosome-nascent chain interactions.Curr Opin Struct Biol2022
36421788Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency.Genes (Basel)2022
35997111CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development.Biochem Soc Trans2022
35904121Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.Hum Mutat2022
35869078Modulating co-translational protein folding by rational design and ribosome engineering.Nat Commun2022
36332611Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.Am J Hum Genet2022
36101822Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.JIMD Rep2022
35866541Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency.J Inherit Metab Dis2022
35927328The ribosome stabilizes partially folded intermediates of a nascent multi-domain protein.Nat Chem2022
36030551Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.Hum Mutat2022
36085161The role of exome sequencing in childhood interstitial or diffuse lung disease.Orphanet J Rare Dis2022
36114226Author Correction: Modulating co-translational protein folding by rational design and ribosome engineering.Nat Commun2022
35254397Reply: Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.Brain2022
35254387Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.JAMA Neurol2022
35190460Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life.BMJ Open Respir Res2022
35317023Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.Adv Genet (Hoboken)2022
35128751Any symptom, in any organ, at any age: A case report of multiple genetic diagnoses mimicking mitochondrial disease in an adult with kidney disease.Nephrology (Carlton)2022
35055180Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.Int J Mol Sci2022
34991945FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.Mol Genet Metab2022
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Collaborators

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Co-authored papers 60
Christopher M Dobson
University of Cambridge
Co-authored papers 42
Zornitza Stark
Murdoch Children's Research Institute
Co-authored papers 25
Alison G Compton
Co-authored papers 24
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Co-authored papers 19
Hakon Hakonarson
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Co-authored papers 13
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Prince of Wales Hospital
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Sarah E Calvo
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Robert McFarland
Newcastle University
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Robert W Taylor
Newcastle upon Tyne Hospitals NHS Foundation Trust
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Dong Li
Co-authored papers 6
Denise M Kirby
Co-authored papers 6
Felicity Collins
Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital
Co-authored papers 6
Walter J Chazin
and Center for Structural Biology, Vanderbilt University
Co-authored papers 5
Annette Feigenbaum
Rady Children's Hospital and The University of California
Co-authored papers 5
Andrew H Sinclair
Co-authored papers 5
Mark A Tarnopolsky
McMaster University Medical Center
Co-authored papers 5
Kathryn N North
Murdoch Children's Research Institute
Co-authored papers 5
Mary Kay Koenig
The University of Texas McGovern Medical School
Co-authored papers 5
Brendan J Keating
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 5
Release 1.2