J. Christodoulou

发表

A Coupled Equilibrium Shift Mechanism in Calmodulin-Mediated Signal Transduction

Michele Vendruscolo, Christopher M. Dobson, Jörg Gsponer, 2008, Structure.

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

J. Christodoulou, Y. Zurynski, M. Deverell, 2017, Orphanet Journal of Rare Diseases.

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR)

Andrew J. Grimm, J. Bond, M. Greenblatt, 2007, Human mutation.

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.

Jafar S. Jabbari, V. Mootha, Y. Okazaki, 2020, Med.

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

N. Hauser, B. Graham, J. Christodoulou, 2019, Mitochondrion.

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

R. Rodenburg, J. Christodoulou, M. Tarailo-Graovac, 2016, JIMD reports.

Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

R. Rodenburg, J. Christodoulou, M. Tarailo-Graovac, 2017, JIMD reports.

MECP2-Related Disorders

J. Christodoulou, G. Ho, 2012 .

Rett syndrome: Revised diagnostic criteria and nomenclature

W. Kaufmann, P. Huppke, A. Clarke, 2010, Annals of neurology.

The Natural History of Scoliosis in Females With Rett Syndrome

J. Christodoulou, H. Leonard, P. Jacoby, 2016, Spine.

Mapping long-range interactions in alpha-synuclein using spin-label NMR and ensemble molecular dynamics simulations.

C. Dobson, K. Lindorff-Larsen, M. Vendruscolo, 2005, Journal of the American Chemical Society.

Structure and properties of a complex of α-synuclein and a single-domain camelid antibody.

C. Dobson, L. Wyns, E. Pardon, 2010, Journal of molecular biology.

A Relationship between the Transient Structure in the Monomeric State and the Aggregation Propensities of α-Synuclein and β-Synuclein

Jane R. Allison, C. Dobson, M. Vendruscolo, 2014, Biochemistry.

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

J. Rosenfeld, H. Hakonarson, J. Lupski, 2019, Brain : a journal of neurology.

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

J. Christodoulou, N. V. Van Bergen, 2020, Brain : a journal of neurology.

TRAPPing a neurological disorder: from yeast to humans

J. Christodoulou, Zhanna Lipatova, N. Segev, 2020, Autophagy.

Reply: Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.

J. Christodoulou, N. V. Van Bergen, Molly Ellery, 2020, Brain : a journal of neurology.

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

S. Carr, V. Mootha, S. Dimauro, 2012 .

Cisplatin Binding Sites on Human Albumin*

J Christodoulou, A I Ivanov, P J Sadler, 1998, The Journal of Biological Chemistry.

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Undiagnosed Diseases Network, J. Rosenfeld, I. Scheffer, 2020, Journal of inherited metabolic disease.

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

J. Christodoulou, C. Ellaway, W. Gold, 2019, Human mutation.

Prolonged QT interval in Rett syndrome

J. Christodoulou, H. Leonard, G. Sholler, 1999, Archives of disease in childhood.

RettBASE: Rett syndrome database update

J. Christodoulou, G. Ho, John Christodoulou, 2017, Human mutation.

Targeting serpins in high-throughput and structure-based drug design.

J. Irving, J. Christodoulou, I. Nobeli, 2011, Methods in enzymology.

Optimal design of adaptively sampled NMR experiments for measurement of methyl group dynamics with application to a ribosome-nascent chain complex

J. Christodoulou, C. Waudby, Charles Burridge, 2020 .

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.

Courtney E. French, D. Rowitch, F. Muntoni, 2022, JAMA neurology.

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).

J. Christodoulou, B. Kamien, D. Phelan, 2020, Journal of genetics and genomics = Yi chuan xue bao.

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.

A. Sinclair, J. Braithwaite, David P. Hansen, 2019, American journal of human genetics.

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

N. Brown, J. Christodoulou, Z. Stark, 2019, European Journal of Human Genetics.

Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.

J. Christodoulou, S. Balasubramaniam, B. Ryder, 2017, JIMD reports.

Clinical genomic testing: what matters to key stakeholders?

J. Braithwaite, J. Christodoulou, Z. Stark, 2020, European Journal of Human Genetics.

Lesch–Nyhan disease in a 20-year- old man incorrectly described as developing ‘cerebral palsy’ after general anaesthesia in infancy

J. Christodoulou, R. Ouvrier, J. Duley, 2006, Journal of Inherited Metabolic Disease.

A structural ensemble of a ribosome-nascent chain complex during co-translational protein folding

Amy L. Robertson, Lisa D. Cabrita, C. Dobson, 2016, Nature Structural &Molecular Biology.

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).

B. Emanuel, M. Budarf, J. Christodoulou, 1999, American journal of medical genetics.

Rett Syndrome: Randomized Controlled Trial of L-Carnitine

J. Christodoulou, H. Leonard, C. Ellaway, 1999, Journal of child neurology.

fever Allogeneic bone marrow transplantation: cure for familial Mediterranean

T. Roscioli, J. Christodoulou, J. Milledge, 2013 .

Allogeneic bone marrow transplantation: cure for familial Mediterranean fever.

T. Roscioli, J. Christodoulou, J. Milledge, 2002, Blood.

Intragenic Complementation at the Human Argininosuccinate Lyase Locus

D. C. Walker, R. Mcinnes, J. Christodoulou, 1997, The Journal of Biological Chemistry.

Progressive myoclonic epilepsies: Recent genetic advances

J. Christodoulou, E. Elliott, C. Ellaway, 1997, Journal of paediatrics and child health.

The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

J. Christodoulou, C. Ellaway, K. Bhattacharya, 2013, JIMD reports.

The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.

P. Nicolaides, A. Drousiotou, J. Christodoulou, 2012, Clinical biochemistry.

Effects of MECP2 mutation type, location and X‐inactivation in modulating Rett syndrome phenotype

N. Laing, J. Christodoulou, H. Leonard, 2003, American journal of medical genetics. Part A.

Early onset seizures and Rett-like features associated with mutations in CDKL5

J. Gécz, D. Cooper, A. Clarke, 2005, European Journal of Human Genetics.

Nature and Regulation of Protein Folding on the Ribosome

C. Dobson, J. Christodoulou, C. Waudby, 2019, Trends in biochemical sciences.

Diagnosis of ‘possible’ mitochondrial disease: an existential crisis

Marni J. Falk, Ryan L. Davis, E. Bertini, 2019, Journal of Medical Genetics.

The implication of phenylketonuria on oral health.

J. Christodoulou, B. Wilcken, H. Awang, 1999, Pediatric Dentistry.

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

H. Hakonarson, Yiran Guo, D. Adams, 2020, Molecular Genetics and Metabolism.

Parental health spillover effects of paediatric rare genetic conditions

P. Lockhart, I. Scheffer, J. Christodoulou, 2020, Quality of Life Research.

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

F. McKenzie, J. Christodoulou, A. Darmanian, 2012, European Journal of Human Genetics.

The effect of emerging nutraceutical interventions for clinical and biological outcomes in multiple sclerosis: A systematic review.

S. Broadley, J. Lechner-Scott, A. Ponsonby, 2019, Multiple sclerosis and related disorders.

Any symptom, in any organ, at any age: A case report of multiple genetic diagnoses mimicking mitochondrial disease in an adult with kidney disease

J. Christodoulou, Rocio Rius, M. Wallis, 2022, Nephrology.

Two-dimensional NMR lineshape analysis of single, multiple, zero and double quantum correlation experiments

J. Christodoulou, C. Waudby, Margaux Ouvry, 2019, Journal of Biomolecular NMR.

Volumetric bone mineral density and bone geometry assessed by peripheral quantitative computed tomography in women with differentiated thyroid cancer under TSH suppression

J. Christodoulou, M. Alevizaki, I. Dontas, 2015, Clinical endocrinology.

Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience.

John J. Mitchell, J. Christodoulou, C. Ellaway, 2005, Molecular genetics and metabolism.

Coronary calcium detected by digital cinefluoroscopy and coronary artery disease in patients undergoing coronary arteriography: effects of age and sex.

J. Christodoulou, D. Alexopoulos, P. Davlouros, 2003, International journal of cardiology.

Coronary arteriographic findings in symptomatic and asymptomatic subjects with coronary artery calcification.

J. Christodoulou, D. Alexopoulos, G. Hahalis, 2001, International journal of cardiology.

Coronary artery calcium detected by digital fluoroscopy and risk factors in healthy subjects.

J. Christodoulou, D. Alexopoulos, S. Foussas, 1996, The American journal of cardiology.

Adaptation of a mitochondrial complex III assay for automation: examination of reproducibility and precision.

J. Christodoulou, A. J. Williams, J. Minchenko, 2003, Clinical chemistry.

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs

Mark S. Anderson, Chun Jimmie Ye, Gabriela K. Fragiadakis, 2022, Science immunology.

Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.

Carole L. Linster, J. Christodoulou, N. V. Van Bergen, 2020, Brain : a journal of neurology.

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

R. Giegé, M. Bahlo, J. Christodoulou, 2010, American Journal of Human Genetics.

The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study.

J. Christodoulou, P. Joy, C. Rae, 2007, Molecular genetics and metabolism.

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

B. V. van Bon, R. Pfundt, G. Carvill, 2021, American journal of human genetics.

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy

K. Holman, J. Christodoulou, M. Menezes, 2018, Seizure.

Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness

J. Christodoulou, D. Singh-Grewal, I. Aksentijevich, 2007, Annals of the rheumatic diseases.

Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders

J. Christodoulou, A. Poulos, C. Chow, 2005, Virchows Archiv A.

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

J. Christodoulou, H. Leonard, D. Ravine, 2009, Journal of Medical Genetics.

Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations.

J. Christodoulou, B. Wilcken, J. Hammond, 2002, Molecular genetics and metabolism.

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

P. Lockhart, C. Nellåker, D. Wieczorek, 2021, American journal of human genetics.

Newborn bloodspot screening in the time of COVID-19

J. Christodoulou, J. Pitt, R. Greaves, 2021, Genetics in Medicine.

Modulating co-translational protein folding by rational design and ribosome engineering

Lisa D. Cabrita, Tomasz Włodarski, J. Christodoulou, 2022, Nature Communications.

Prognostic significance of coronary artery calcium in asymptomatic subjects with usual cardiovascular risk.

J. Christodoulou, D. Alexopoulos, P. Davlouros, 2003, American heart journal.

Rapid distinction of intracellular and extracellular proteins using NMR diffusion measurements.

Lisa D. Cabrita, C. Dobson, L. Gladden, 2012, Journal of the American Chemical Society.

Genetic Metabolic Disease

J. Christodoulou, K. Bhattacharya, F. Moore, 2022, Keeling's Fetal and Neonatal Pathology.

Glutaric aciduria type I: outcome following detection by newborn screening

J. Christodoulou, C. Ellaway, B. Wilcken, 2008, Journal of Inherited Metabolic Disease.

Next-Generation Sequencing Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted

D. Jaffe, V. Mootha, S. Dimauro, 2012 .

The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment

J. Christodoulou, Z. Stark, I. Goranitis, 2020, Genetics in Medicine.

Ethylmalonic encephalopathy masquerading as meningococcemia

S. Goergen, J. Christodoulou, D. Phelan, 2022, Cold Spring Harbor molecular case studies.

Ethically utilising COVID-19 host-genomic data

J. Savulescu, J. Christodoulou, Christopher Gyngell, 2021, NPJ genomic medicine.

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.

Joseph T. Glessner, Ryan L. Davis, J. Glessner, 2015, Human molecular genetics.

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.

H. Hakonarson, Yiran Guo, H. Pickett, 2014, Blood.

Expression, Purification, Characterization and Cellular Uptake of MeCP2 Variants

J. Christodoulou, A. Huber, F. Laccone, 2022, The Protein Journal.

TAT-MeCP2 protein variants rescue disease phenotypes in human and mouse models of Rett syndrome.

A. Mildner, M. Prinz, J. Christodoulou, 2022, International journal of biological macromolecules.

An electrochemiluminescence based assay for quantitative detection of endogenous and exogenously applied MeCP2 protein variants

J. Christodoulou, J. Etzler, Katrin Rose, 2019, Scientific Reports.

Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities.

J. Christodoulou, C. Ellaway, W. Gold, 2017, ACS chemical neuroscience.

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

J. Christodoulou, W. Gold, 2015, Front. Cell. Neurosci..

MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors

J. Christodoulou, W. Gold, L. Cantrill, 2014, Journal of Molecular Medicine.

Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome

A. Clarke, J. Christodoulou, C. Zweier, 2012, American journal of medical genetics. Part A.

Phenylketonuria: translating research into novel therapies.

J. Christodoulou, G. Ho, 2014, Translational pediatrics.

Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.

S. Kulkarni, A. Hamvas, J. Christodoulou, 2009, The Journal of pediatrics.

Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder

J. Christodoulou, A. Compton, S. Balasubramaniam, 2022, JIMD reports.

The ribosome stabilizes partially folded intermediates of a nascent multi-domain protein

Tomasz Włodarski, J. Christodoulou, C. Waudby, 2022, Nature Chemistry.

Systematic mapping of free energy landscapes of a growing filamin domain during biosynthesis

Lisa D. Cabrita, M. Vendruscolo, Tomasz Włodarski, 2018, Proceedings of the National Academy of Sciences.

Systematic mapping of the free energy landscapes of a growing immunoglobulin domain identifies a kinetic intermediate associated with co-translational proline isomerization

M. Vendruscolo, Tomasz Włodarski, J. Christodoulou, 2017, bioRxiv.

The Significance of the Location of Mutations for the Native-State Dynamics of Human Lysozyme

Francisco N. Newby, C. Dobson, C. Robinson, 2016, Biophysical journal.

Rett Syndrome: Significant Clinical Overlap With Angelman Syndrome but Not With Methylation Status

J. Christodoulou, H. Leonard, A. Smith, 1998, Journal of child neurology.

The role of exome sequencing in childhood interstitial or diffuse lung disease

T. Roscioli, J. Christodoulou, Z. Stark, 2022, Orphanet Journal of Rare Diseases.

Distinct expression profiles of Mecp2 transcripts with different lengths of 3'UTR in the brain and visceral organs during mouse development.

P. Tam, J. Christodoulou, G. Pelka, 2005, Genomics.

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Katherine R. Smith, M. Bahlo, Luke C. Gandolfo, 2014, American journal of human genetics.

High-resolution ex vivo NMR spectroscopy of human Z α1-antitrypsin

J. Irving, D. Lomas, J. Christodoulou, 2020, Nature Communications.

Type 2 Gaucher disease: the collodion baby phenotype revisited

J. Christodoulou, E. Sidransky, D. Stone, 2000, Archives of disease in childhood. Fetal and neonatal edition.

Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature

Z. Tümer, R. Møller, J. Christodoulou, 2019, Clinical genetics.

University of Southern Denmark Clinician's guide to genes associated with Rett-like phenotypes Investigation of a Danish cohort and review of the literature

Z. Tümer, R. Møller, J. Christodoulou, 2017 .

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

P. Tam, J. Christodoulou, G. Peters, 2014, European Journal of Human Genetics.

Needs of people with rare diseases that can be supported by electronic resources: a scoping review

J. Braithwaite, J. Christodoulou, J. Long, 2022, BMJ Open.

Compliance with immunization programmes

J. Christodoulou, N. Buchanan, S. Clarke, 1981, Australian paediatric journal.

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)

A. Sinclair, J. Christodoulou, T. Stojkovic, 2020, Human Genetics.

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia

T. Degrauw, J. Christodoulou, Y. Matsubara, 2006, Human mutation.

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

Meredith Wilson, J. Christodoulou, H. Leonard, 2012, European Journal of Human Genetics.

CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development

R. Kapsa, A. Quigley, J. Christodoulou, 2022, Biochemical Society transactions.

Functional abilities in children and adults with the CDKL5 disorder

J. Christodoulou, H. Leonard, N. de Klerk, 2016, American journal of medical genetics. Part A.

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain

Andrew J. Grimm, P. Tam, J. Christodoulou, 2011, Human Genetics.

NTNG1 mutations are a rare cause of Rett syndrome

A. Clarke, D. Pilz, J. Christodoulou, 2006, American journal of medical genetics. Part A.

Seizures in Rett syndrome: an overview from a one-year calendar study.

J. Christodoulou, H. Leonard, D. Ravine, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Early progressive encephalopathy in boys and MECP2 mutations

W. Kaufmann, M. Friez, J. Christodoulou, 2006, Neurology.

Spontaneous assembly of redox-active iron-sulfur clusters at low concentrations of cysteine

J. Christodoulou, L. Bogart, A. Maréchal, 2021, Nature Communications.

Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.

J. Christodoulou, R. Olsen, G. Ho, 2007, Molecular genetics and metabolism.

Update on transcobalamin deficiency: clinical presentation, treatment and outcome

John J. Mitchell, D. Zafeiriou, B. Echenne, 2014, Journal of Inherited Metabolic Disease.

Hyperventilation Test in Syndrome X

J. Christodoulou, D. Alexopoulos, D. Cokkinos, 1996, Angiology.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

S. Züchner, M. Lek, F. Muntoni, 2013, Brain : a journal of neurology.

Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP‐B) deficiency

D. Cooper, P. Böelle, F. Roudot-thoraval, 2006, American journal of medical genetics. Part A.

The Genetic Landscape and Epidemiology of Phenylketonuria.

V. Stoppioni, J. Vockley, B. Burton, 2020, American journal of human genetics.

Common sequence motifs of nascent chains engage the ribosome surface and trigger factor

Lisa D. Cabrita, M. Vendruscolo, Tomasz Włodarski, 2021, Proceedings of the National Academy of Sciences.

Hemodynamic response to hyperventilation test in healthy volunteers

J. Christodoulou, D. Alexopoulos, G. Sitafidis, 1995, Clinical cardiology.

The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments

J. Christodoulou, Z. Stark, I. Goranitis, 2020, Genetics in Medicine.

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

M. Cowley, J. Christodoulou, Rocio Rius, 2019, Genetics in Medicine.

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.

J. Christodoulou, S. Rahman, M. Menezes, 2016, Mitochondrion.

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

J. Gécz, S. Robertson, R. Stevenson, 2022, Human mutation.

In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria

J. Reichardt, J. Christodoulou, G. Ho, 2013, Journal of Inherited Metabolic Disease.

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

J. Christodoulou, H. Leonard, N. de Klerk, 2009, Neurology.

The ribosome stabilises partially folded intermediates of a nascent multi-domain protein

Lisa D. Cabrita, Tomasz Włodarski, J. Christodoulou, 2022, Nature Chemistry.

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

X. Liu, J. Christodoulou, D. Yan, 2013, International journal of audiology.

The PRPP Synthetase Spectrum: What Does it Demonstrate About Nucleotide Syndromes?

J. Christodoulou, A. D. de Brouwer, J. Duley, 2011, Nucleosides, nucleotides & nucleic acids.

Cross‐Peaks in Simple Two‐Dimensional NMR Experiments from Chemical Exchange of Transverse Magnetisation

T. Frenkiel, J. Christodoulou, C. Waudby, 2019, Angewandte Chemie.

Cross‐Peaks in Simple Two‐Dimensional NMR Experiments from Chemical Exchange of Transverse Magnetisation†

T. Frenkiel, J. Christodoulou, C. Waudby, 2019, Angewandte Chemie.

Experience of Gastrostomy Using a Quality Care Framework: The Example of Rett Syndrome

J. Christodoulou, H. Leonard, P. Jacoby, 2014, Medicine.

The Future Challenges for the Clinical Application of Reprogrammed Cells

J. Christodoulou, M. Edel, Jordi Requena, 2014 .

Automated analysis of mitochondrial enzymes in cultured skin fibroblasts.

J. Christodoulou, A. Williams, J. Coakley, 1998, Analytical biochemistry.

A girl with duplication 17p10‐p12 associated with a dicentric chromosome

P. Stankiewicz, J. Lupski, J. Christodoulou, 2004, American journal of medical genetics. Part A.

Costeff optic atrophy syndrome: New clinical case and novel molecular findings

J. Christodoulou, G. Ho, J. Walter, 2008, Journal of Inherited Metabolic 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.

H. Hakonarson, Yiran Guo, Jianguo Zhang, 2016, JIMD reports.

Hyperinsulinaemia in Syndrome X: A Marker of the Syndrome?

J. Christodoulou, D. Alexopoulos, D. Cokkinos, 1994, Journal of cardiovascular risk.

Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency

Carole L. Linster, J. Christodoulou, Adhish S. Walvekar, 2022, Journal of inherited metabolic disease.

Relation of coronary artery calcium to exercise testing in healthy subjects.

J. Christodoulou, D. Alexopoulos, G. Hahalis, 2000, The American journal of cardiology.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

R. Ganetzky, H. Prokisch, E. Eklund, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Transcriptional regulation by MECP2

J. Christodoulou, R. Krishnaraj, 2018, Reactome - a curated knowledgebase of biological pathways.

Loss of function of MECP2 in Rett syndrome

J. Christodoulou, R. Krishnaraj, 2018, Reactome - a curated knowledgebase of biological pathways.

Alleviating Transcriptional Inhibition of the Norepinephrine Slc6a2 Transporter Gene in Depolarized Neurons

R. Cappai, G. Ciccotosto, P. Tam, 2010, The Journal of Neuroscience.

Rett syndrome: new clinical and molecular insights

J. Christodoulou, S. Williamson, 2006, European Journal of Human Genetics.

Family satisfaction following spinal fusion in Rett syndrome

J. Christodoulou, H. Leonard, P. Jacoby, 2016, Developmental neurorehabilitation.

Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration

J. Christodoulou, H. Leonard, C. Ellaway, 2001, Brain and Development.

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Kenneth D. Doig, K. Friend, J. Pearson, 2022, American journal of human genetics.

Letter to the Editor: 1H, 15N and 13C assignments of the regulatory domains of calcium-dependent protein kinase (CDPK)

W. Chazin, M. Rance, J. Christodoulou, 2002, Journal of biomolecular NMR.

An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples

J. Christodoulou, B. Wilcken, V. Wiley, 2011, Annals of clinical biochemistry.

Quantifying constraint in the human mitochondrial genome

S. Sunyaev, D. Arking, M. Lek, 2023, bioRxiv.

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

Neal K. Bennett, M. Cowley, J. Christodoulou, 2022, Human Mutation.

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

D. Mackey, C. Sue, J. Christodoulou, 2021, Internal medicine journal.

Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin.

J. Christodoulou, H. Dahl, D. Thorburn, 1997, The Journal of pediatrics.

Autonomic cardiovascular neuropathy in Sjögren's syndrome. A controlled study.

J. Christodoulou, D. Alexopoulos, A. Andonopoulos, 1998, The Journal of rheumatology.

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

J. Christodoulou, H. Leonard, N. de Klerk, 2016, Neurology.

There is variability in the attainment of developmental milestones in the CDKL5 disorder

J. Christodoulou, H. Leonard, N. de Klerk, 2015, Journal of Neurodevelopmental Disorders.

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

N. Brown, S. Sandaradura, T. Roscioli, 2020, JAMA.

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.

Z. Tümer, J. Christodoulou, D. Danks, 1998, American journal of medical genetics.

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

J. Christodoulou, W. Gold, L. Cantrill, 2018, Acta histochemica.

A new structural transition of serum albumin dependent on the state of Cys34. Detection by 1H-NMR spectroscopy.

P. Sadler, J. Christodoulou, A. Tucker, 1994, European journal of biochemistry.

1H NMR of albumin in human blood plasma: drug binding and redox reactions at Cys34

P. Sadler, J. Christodoulou, A. Tucker, 1995, FEBS letters.

Multi-metal binding site of serum albumin.

P. Sadler, J. Christodoulou, W. Bal, 1998, Journal of inorganic biochemistry.

Determination of gold and platinum in the presence of blood plasma proteins using inductively coupled plasma mass spectrometry with direct injection nebulization

P. Sadler, J. Christodoulou, M. Kashani, 1996 .

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

H. Hakonarson, Yiran Guo, N. Clarke, 2015, Neuromuscular Disorders.

Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment

J. Christodoulou, Z. Stark, I. Goranitis, 2021, European Journal of Human Genetics.

The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments

J. Christodoulou, Z. Stark, I. Goranitis, 2020, Genetics in Medicine.

Leigh syndrome: Clinical features and biochemical and DNA abnormalities

J. Christodoulou, D. Danks, H. Dahl, 1996, Annals of neurology.

Phenylketonuria: a review of current and future treatments.

J. Christodoulou, John Christodoulou, Naz Al Hafid, 2015, Translational pediatrics.

Barth syndrome: clinical observations and genetic linkage studies.

R. Mcinnes, V. Jay, J. Christodoulou, 1994, American journal of medical genetics.

An international classification of inherited metabolic disorders (ICIMD)

Robert W. Taylor, A. Ballabio, E. Bertini, 2020, Journal of inherited metabolic disease.

D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile

P. Talmud, A. Mangé, J. Christodoulou, 2016, Nature Communications.

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase

P. Huppke, P. J. Steinbach, S. Kaler, 2012, Human mutation.

Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β

P. Gregersen, J. Casanova, J. Fellay, 2021, Journal of Clinical Immunology.

Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients.

J. Christodoulou, E. O'Loughlin, D. Thorburn, 2012, JIMD reports.

Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.

J. Christodoulou, P. McDougall, L. Sheffield, 1989, Journal of medical genetics.

Ornithine transcarbamylase deficiency presenting with strokelike episodes.

R. Mcinnes, J. Christodoulou, J. Clarke, 1993, The Journal of pediatrics.

Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts.

J. Christodoulou, K. Hayasaka, S. Kure, 1993, The Journal of pediatrics.

Inborn errors of purine metabolism: clinical update and therapies

J. Christodoulou, S. Balasubramaniam, J. Duley, 2014, Journal of Inherited Metabolic Disease.

Two-Dimensional NMR Lineshape Analysis

Christopher A. Waudby, Andres Ramos, John Christodoulou, 2016, Scientific Reports.

“Reducing body”-like inclusions in skeletal muscle in childhood-onset acid maltase deficiency

R. Mcinnes, V. Jay, J. Christodoulou, 2004, Acta Neuropathologica.

Solution-state nuclear magnetic resonance spectroscopy and protein folding.

Lisa D. Cabrita, C. Dobson, J. Christodoulou, 2011, Methods in molecular biology.

Autopsy findings in two siblings with infantile Refsum disease

J. Christodoulou, D. Danks, A. Fellenberg, 2004, Acta Neuropathologica.

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

S. Scherer, C. Marshall, S. Wodak, 2018, Genetics in Medicine.

Solid organ transplantation in primary mitochondrial disease: Proceed with caution.

M. Tarnopolsky, C. Wusthoff, J. Christodoulou, 2016, Molecular genetics and metabolism.

PRPS1 mutations: four distinct syndromes and potential treatment.

S. Nabuurs, W. Arts, H. van Bokhoven, 2010, American journal of human genetics.

The extremely slow‐exchanging core and acid‐denatured state of green fluorescent protein

J. Christodoulou, S. Hsu, S. Jackson, 2008, HFSP journal.

New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.

S. Dimauro, M. Mancuso, J. Christodoulou, 2005, Archives of neurology.

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

M. Huynen, H. Endo, R. Rodenburg, 2013, PLoS genetics.

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

P. Rustin, N. Laing, J. Christodoulou, 2013, American journal of human genetics.

Disorders of riboflavin metabolism

J. Christodoulou, S. Rahman, S. Balasubramaniam, 2019, Journal of inherited metabolic disease.

Maternal riboflavin deficiency, resulting in transient neonatal‐onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

John J. Mitchell, J. Christodoulou, S. Masuda, 2011, Human mutation.

Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network

Martin S. Taylor, Jay W. Shin, Thomas J. Ha, 2021, Nature Communications.

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

J. Christodoulou, B. Robinson, R. Petrova-Benedict, 1992, American journal of human genetics.

Rett syndrome in Australia: a review of the epidemiology.

Carol Bower, J. Christodoulou, H. Leonard, 2006, The Journal of pediatrics.

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

A. Eyre-Walker, C. Houdayer, J. Christodoulou, 2016, Human mutation.

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

J. Gécz, A. Clarke, P. Tam, 2004, American journal of human genetics.

Correlation between clinical severity in patients with Rett syndrome with a p . R 168 X or p . T 158 M MECP 2 mutation , and the direction and degree of skewing of X-chromosome inactivation

T. Charman, A. Clarke, J. Christodoulou, 2007 .

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation

T. Charman, A. Clarke, J. Christodoulou, 2006, Journal of Medical Genetics.

Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation.

P. Tam, J. Christodoulou, M. Shahbazian, 2005, Human molecular genetics.

Genotype and early development in Rett syndrome: The value of international data

J. Christodoulou, H. Leonard, N. Klerk, 2005, Brain and Development.

p.R270X MECP2 mutation and mortality in Rett syndrome

J. Christodoulou, H. Leonard, D. Ravine, 2005, European Journal of Human Genetics.

Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome.

J. Christodoulou, A. Bankier, P. Loughnan, 1990, American journal of medical genetics.

Probing ribosome-nascent chain complexes produced in vivo by NMR spectroscopy

Lisa D. Cabrita, C. Dobson, J. Christodoulou, 2009, Proceedings of the National Academy of Sciences.

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

J. Gécz, S. Robertson, R. Stevenson, 2021, HGG advances.

Nanobodies raised against monomeric α-synuclein distinguish between fibrils at different maturation stages.

Alexander K. Buell, C. Dobson, L. Wyns, 2013, Journal of molecular biology.

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

AnneMarie E. Welch, M. Cowley, A. Minoche, 2021, Genes.

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

M. Cowley, G. Enns, Meredith Wilson, 2019, Journal of clinical medicine.

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

Beryl B. Cummings, H. Hakonarson, Yiran Guo, 2019, Molecular Genetics and Metabolism.

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

K. Holman, C. Fraser, J. Christodoulou, 2016, Human mutation.

Arts syndrome is caused by loss-of-function mutations in PRPS1.

M. Egmont-Petersen, S. Nabuurs, A. V. van Kuilenburg, 2007, American journal of human genetics.

Mutation Analysis of MECP2 and Determination of the X-Inactivation Pattern in Hungarian Rett Syndrome Patients

A. Silahtaroglu, N. Laing, M. Schwartz, 2004 .

Heteronuclear NMR investigations of dynamic regions of intact Escherichia coli ribosomes.

C. Dobson, C. Robinson, J. Christodoulou, 2004, Proceedings of the National Academy of Sciences of the United States of America.

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

D. MacArthur, N. Brown, A. O’Donnell-Luria, 2021, Journal of Medical Genetics.

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

H. Hakonarson, J. Hurst, J. Christodoulou, 2020, Science Advances.

Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders

I. Scheffer, J. Gécz, J. Christodoulou, 2010, Twin Research and Human Genetics.

Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.

J. Christodoulou, A. Poulos, Y. Suzuki, 1995, The Journal of pediatrics.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

Studying severe long COVID to understand post-infectious disorders beyond COVID-19

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Nature Medicine.

Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

F. Andermann, R. Shiang, E. Andermann, 2010, The Journal of Neuroscience.

An intrinsic temporal order of c-JUN N-terminal phosphorylation regulates its activity by orchestrating co-factor recruitment

J. Christodoulou, C. Waudby, A. Behrens, 2021, bioRxiv.

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

A. Pagnamenta, B. Chung, S. Guter, 2021, Journal of Medical Genetics.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain

Andrew J. Grimm, P. Tam, J. Christodoulou, 2012, Human Genetics.

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

J. Christodoulou, H. Leonard, D. Ravine, 2005, Journal of Medical Genetics.

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

Robert W. Taylor, H. Smeets, P. Bonnen, 2019, Annals of clinical and translational neurology.

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.

Jacob D. Jaffe, S. Carr, V. Mootha, 2011, Cell metabolism.

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

M. Clark, J. Christodoulou, Z. Stark, 2020, Human mutation.

RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.

M. Clark, J. Christodoulou, Z. Stark, 2020, medRxiv.

The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis

J. Braithwaite, J. Christodoulou, J. Long, 2021, Orphanet Journal of Rare Diseases.

Refining the phenotype of common mutations in Rett syndrome

J Christodoulou, H Leonard, J. Christodoulou, 2004, Journal of Medical Genetics.

Describing the phenotype in Rett syndrome using a population database

M. Msall, J. Christodoulou, H. Leonard, 2003, Archives of disease in childhood.

Understanding Rett syndrome

J. Christodoulou, 2002 .

Guidelines for reporting clinical features in cases with MECP2 mutations

Masaya Segawa, Yushiro Yamashita, Uta Francke, 2001, Brain and Development.

Rett syndrome: Clinical update and review of recent genetic advances

J. Christodoulou, C. Ellaway, 1999, Journal of paediatrics and child health.

Surfactant protein B deficiency: Clinical, histological and molecular evaluation

J. Christodoulou, S. Wert, L. Nogee, 1999, Journal of paediatrics and child health.

Immunological features of α-synuclein in Parkinson's disease

C. Dobson, C. Roodveldt, J. Christodoulou, 2008, Journal of cellular and molecular medicine.

Loss of function variants in PCYT1A causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation

D. Valle, N. Sobreira, J. Christodoulou, 2019, bioRxiv.

First prenatal diagnosis of the carnitine transporter defect.

C. Stanley, J. Christodoulou, B. Y. Hsu, 1996, American journal of medical genetics.

Automated quantitation of total protein in cultured skin fibroblasts.

J. Christodoulou, A. Williams, J. Coakley, 1997, Clinica chimica acta; international journal of clinical chemistry.

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

E. Bertini, R. Carrozzo, M. Tartaglia, 2017, Clinical genetics.

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

M. Fleming, C. Sue, J. Christodoulou, 2015, JIMD reports.

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

I. Scheffer, M. Tartaglia, J. Christodoulou, 2020, American journal of human genetics.

Human genetic and immunological determinants of critical COVID-19 pneumonia

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Nature.

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

E. Zackai, H. Hakonarson, W. Dobyns, 2020, American journal of medical genetics. Part A.

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

D. Jaffe, V. Mootha, S. Dimauro, 2012, Science Translational Medicine.

The ribosome and its role in protein folding: looking through a magnifying glass

Lisa D. Cabrita, E. Orlova, J. Christodoulou, 2017, Acta crystallographica. Section D, Structural biology.

A novel cause of DKC1‐related bone marrow failure: Partial deletion of the 3′ untranslated region

J. Arthur, H. Pickett, R. Reddel, 2021, EJHaem.

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

H. Freeze, K. Bilguvar, J. Christodoulou, 2021, Journal of inherited metabolic disease.

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient

J. Christodoulou, C. Ellaway, S. Lunke, 2019, Clinical case reports.

Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder

J. Christodoulou, L. E. Formosa, D. Stroud, 2021, Neurobiology of Disease.

There is variability in the attainment of developmental milestones in the CDKL5 disorder

J. Christodoulou, H. Leonard, G. Ho, 2015, Journal of Neurodevelopmental Disorders.

RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution

Andrew J. Grimm, J. Christodoulou, B. Bennetts, 2003, Human mutation.

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

L. Arenillas, M. Fleming, D. Swinkels, 2018, Haematologica.

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

L. Arenillas, M. Fleming, D. Swinkels, 2018, Haematologica.

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

Bruce Bennetts, N. Sobreira, Meredith Wilson, 2016, European Journal of Human Genetics.

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

P. Lockhart, I. Scheffer, J. Gécz, 2023, American journal of human genetics.

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma

M. Warmoes, Carole L. Linster, P. Naidoo, 2023, International journal of molecular sciences.

Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies

N. Brown, H. Hakonarson, Yiran Guo, 2022, JIMD reports.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

A. Sinclair, D. Gilot, J. Christodoulou, 2022, European Journal of Human Genetics.

Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency

A. Sinclair, J. Christodoulou, P. Touraine, 2022, Genes.

A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

J. Casanova, J. Fellay, S. Constantinescu, 2021, Nature Immunology.

Predictors of seizure onset in Rett syndrome.

J. Christodoulou, H. Leonard, D. Ravine, 2006, The Journal of pediatrics.

Cerebral hypomyelination associated with biallelic variants of FIG4

P. Lockhart, A. Vanderver, M. Meisler, 2019, Human mutation.

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

J. Christodoulou, A. Rotig, P. de Lonlay, 2013, Orphanet Journal of Rare Diseases.

Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.

M. D. Del Bigio, K. Boycott, J. Christodoulou, 2021, Human molecular genetics.

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

Sander M Houten, Eric E Schadt, Nathalie Boddaert, 2017, American journal of human genetics.

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

F. Wong, J. Christodoulou, T. Derks, 2015, The Lancet.

Potential of AAV vectors in the treatment of metabolic disease

J. Christodoulou, I. Alexander, G. Logan, 2008, Gene Therapy.

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Robert L L Smith, S. Hardwick, J. Christodoulou, 2007, European Journal of Human Genetics.

Mitochondrial Aminoacyl-tRNA Synthetase Disorders Not Generally Affecting Brain

J. Christodoulou, L. Riley, 2016 .

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

J. Gécz, W. Chung, H. Hakonarson, 2021, American journal of human genetics.

How Does the Ribosome Fold the Proteome?

Lisa D. Cabrita, J. Christodoulou, A. Cassaignau, 2020, Annual review of biochemistry.

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

M. Cowley, A. Minoche, C. Sue, 2020, Genetics in Medicine.

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

V. Mootha, S. Calvo, J. Christodoulou, 2019, Human mutation.

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia

H. Hakonarson, Yiran Guo, S. Sandaradura, 2023, Neurology: Genetics.

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Robert W. Taylor, H. Hakonarson, Yiran Guo, 2018, Brain : a journal of neurology.

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

V. Mootha, Michael Springer, J. Christodoulou, 2013, Human molecular genetics.

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

N. Sobreira, J. Christodoulou, C. Boehm, 2017, European Journal of Human Genetics.

Rett syndrome: clinical review and genetic update

J. Gécz, J. Christodoulou, C. Ellaway, 2005, Journal of Medical Genetics.

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

R. Taft, Q. Waisfisz, R. Rodenburg, 2019, Neurology.

The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment

J. Christodoulou, Z. Stark, I. Goranitis, 2020, Genetics in Medicine.

Utility of next‐generation sequencing technologies for the efficient genetic resolution of haematological disorders

H. Hakonarson, Yiran Guo, J. Christodoulou, 2016, Clinical genetics.

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

J. Christodoulou, H. Venselaar, R. Wevers, 2021, Genetics in Medicine.

MECP2 genomic structure and function: insights from ENCODE

J. Christodoulou, D. Ravine, A. Saxena, 2008, Nucleic acids research.

Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Journal of Clinical Immunology.

Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice.

P. Tam, J. Christodoulou, M. Hayward, 2006, Brain : a journal of neurology.

A pilot study of the effect of (e, e)-2, 4-undecadienal on the offensive odour of trimethylamine.

J. Christodoulou, K. Carpenter, Shanley Chong, 2012, JIMD reports.

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder

Matthew P. Anderson, Yufeng Shen, J. Christodoulou, 2020, medRxiv.

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

W. Chung, N. Brunetti‐Pierri, Z. Tümer, 2020, Human mutation.

An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency

V. Jay, J. Christodoulou, B. Robinson, 1993, European Journal of Pediatrics.

Stable intermediate states and high energy barriers in the unfolding of GFP.

Timothy D. Craggs, J. Christodoulou, S. Jackson, 2007, Journal of molecular biology.

Severe subacute necrotizing encephalopathy (Leigh-like syndrome) in American Staffordshire bull terrier dogs.

J. Christodoulou, M. Krockenberger, D. Collins, 2013, Journal of comparative pathology.

The association of protein-losing enteropathy with cobalamin C defect

J. Christodoulou, C. Ellaway, B. Wilcken, 1998, Journal of Inherited Metabolic Disease.

Respiratory chain complex III deficiency with pruritus: A novel vitamin responsive clinical feature

J. Christodoulou, D. Thorburn, D. Kirby, 1999 .

Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.

J. Christodoulou, D. Thorburn, D. Kirby, 1999, The Journal of pediatrics.

Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase α sites

D. C. Walker, R. Mcinnes, C. E. Pearson, 2006, Human mutation.

Intragenic complementation at the argininosuccinate lyase locus: Reconstruction of the active site

R. Mcinnes, J. Christodoulou, P. Howell, 1998, Journal of Inherited Metabolic Disease.

Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.

J. Christodoulou, D. Thorburn, A. Biggin, 2005, Molecular genetics and metabolism.

Genetic defects causing mitochondrial respiratory chain disorders and disease.

J. Christodoulou, John Christodoulou, 2000, Human reproduction.

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

Robert W. Taylor, W. Chung, H. Prokisch, 2017, Annals of neurology.

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

Alexandre Y Marbaix, N. Sobreira, J. Christodoulou, 2017, American journal of medical genetics. Part A.

A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G.

J. Christodoulou, A. Williams, S. Brammah, 1999, Human molecular genetics.

Homocysteine measurement in dried blood spot for neonatal detection of homocystinurias.

J. Christodoulou, B. Wilcken, V. Wiley, 2011, JIMD reports.

Trigger factor slows co-translational folding through kinetic trapping while sterically protecting the nascent chain from aberrant cytosolic interactions.

Michele Vendruscolo, Christopher M Dobson, Edward P O'Brien, 2012, Journal of the American Chemical Society.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Marni J. Falk, J. Ganesh, M. Tarnopolsky, 2017, Genetics in Medicine.

An electrochemiluminescence based assay for quantitative detection of endogenous and exogenously applied MeCP2 protein variants

J. Christodoulou, J. Etzler, Katrin Rose, 2019, Scientific Reports.

MECP2 and Beyond: Phenotype—Genotype Correlations in Rett Syndrome

J. Christodoulou, L. Weaving, Linda S. Weaving, 2003, Journal of child neurology.

A population‐based approach to the investigation of osteopenia in Rett syndrome

J. Christodoulou, H. Leonard, C. Ellaway, 1999, Developmental medicine and child neurology.

Targeting the Intrinsically Disordered Structural Ensemble of α-Synuclein by Small Molecules as a Potential Therapeutic Strategy for Parkinson’s Disease

Alexander K. Buell, Tuomas P. J. Knowles, Michele Vendruscolo, 2014, PloS one.

Evidence for Differing Roles for Each Lobe of the Calmodulin-like Domain in a Calcium-dependent Protein Kinase*

W. Chazin, J. Christodoulou, A. Malmendal, 2004, Journal of Biological Chemistry.

MECP2 recurrent mutation in exon 1 of Lost in translation: translational interference from a

J. Christodoulou, H. Leonard, P. Macleod, 2008 .

Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome –Mecp2 gene dosage effects and BDNF expression

A. Hannan, P. Tam, J. Christodoulou, 2008, The European journal of neuroscience.

Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp 2 308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-inactivation

P. Tam, J. Christodoulou, M. Shahbazian, 2005 .

The human genome project: opportunities, challenges and consequences for population screening.

J. Christodoulou, 2003, The Southeast Asian journal of tropical medicine and public health.

Mitochondrial dysfunction in skeletal muscle of a mouse model of Rett Syndrome ( RTT ) : Implications for the disease phenotype .

P. Tam, J. Christodoulou, I. Hargreaves, 2014 .

Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain

J. Christodoulou, A. El-Osta, B. Slobedman, 2010, BMC Neuroscience.

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

Jeffrey M. Weiss, Karynne E. Patterson, Gao T. Wang, 2016, American journal of human genetics.

Nascent chains can form co-translational folding intermediates that promote post-translational folding outcomes in a disease-causing protein

Lisa D. Cabrita, J. Christodoulou, C. Waudby, 2021, Nature Communications.

Early copper-histidine treatment for Menkes disease

Z. Tümer, J. Christodoulou, J. Clarke, 1996, Nature Genetics.

Molecular determinants of the aggregation behavior of α‐ and β‐synuclein

C. Dobson, M. Vendruscolo, J. Christodoulou, 2008, Protein science : a publication of the Protein Society.

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

S. Haas, P. Huppke, S. Kaler, 2012, American journal of human genetics.

Genome‐wide linkage of obstructive sleep apnoea and high‐density lipoprotein cholesterol in a Filipino family: bivariate linkage analysis of obstructive sleep apnoea

L. Baur, K. Waters, J. Christodoulou, 2010, Journal of sleep research.

Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency

J. Christodoulou, P. Clayton, M. Silink, 2009, Journal of Inherited Metabolic Disease.

Drosophila as a diet discovery tool for treating amino acid disorders

M. Piper, H. Bellen, J. Christodoulou, 2022, Trends in Endocrinology & Metabolism.

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

Janice Fletcher, Pamela Joy, Kevin Carpenter, 2009, Pediatrics.

Diagnosis of Rett syndrome: can a radiograph help?

J. Christodoulou, H. Leonard, E. Rousham, 1998, Developmental medicine and child neurology.

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

J. Christodoulou, L. Riley, Minal Menezes, 2014, Biochimica et biophysica acta.

M. Cowley, C. Sue, J. Christodoulou, 2017, JIMD reports.

Mutations in the exocyst component EXOC2 cause severe defects in human brain development

M. Cowley, M. Dinger, J. Christodoulou, 2020, The Journal of experimental medicine.

Structure, dynamics and folding of an immunoglobulin domain of the gelation factor (ABP-120) from Dictyostelium discoideum.

Lisa D. Cabrita, C. Dobson, J. Christodoulou, 2009, Journal of molecular biology.

Archaeal MBF1 binds to 30S and 70S ribosomes via its helix-turn-helix domain.

Stan J. J. Brouns, Lisa D. Cabrita, A. Cavalli, 2014, The Biochemical journal.

Rationalising lysozyme amyloidosis: insights from the structure and solution dynamics of T70N lysozyme.

Mireille Dumoulin, Christopher M Dobson, Carol V Robinson, 2005, Journal of molecular biology.

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

J. Christodoulou, M. Tchan, Jane Estrella, 2018, JIMD reports.

Chaperone proteostasis in Parkinson's disease: stabilization of the Hsp70/α‐synuclein complex by Hip

C. Dobson, C. Roodveldt, J. Christodoulou, 2009, The EMBO journal.

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

M. Cowley, M. Bahlo, T. Roscioli, 2017, Journal of Inherited Metabolic Disease.

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

E. Zackai, H. Hakonarson, Yiran Guo, 2021, Human Genetics.

Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life

J. Christodoulou, H. Selvadurai, C. Wakefield, 2022, BMJ Open Respiratory Research.

Metastability of native proteins and the phenomenon of amyloid formation.

Michele Vendruscolo, Gian Gaetano Tartaglia, Christopher M Dobson, 2011, Journal of the American Chemical Society.

Vrije Universiteit Brussel Nanobodies Raised against Monomeric alpha-Synuclein Distinguish between Fibrils at Different Maturation Stages

C. Dobson, L. Wyns, M. Vendruscolo, 2017 .

A nanobody binding to non-amyloidogenic regions of the protein human lysozyme enhances partial unfolding but inhibits amyloid fibril formation.

C. Dobson, L. Wyns, S. Muyldermans, 2013, The journal of physical chemistry. B.

Trisomy 21 and Rett syndrome: A double burden

J. Christodoulou, H. Leonard, M. Delatycki, 2004, Journal of paediatrics and child health.

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome

F. Hanefeld, A. Clarke, J. Christodoulou, 2003, Journal of medical genetics.

G. Eslick, J. Christodoulou, Y. Zurynski, 2021, Journal of paediatrics and child health.

Rare disease: a national survey of paediatricians’ experiences and needs

Yvonne Zurynski, J. Christodoulou, Y. Zurynski, 2017, BMJ Paediatrics Open.

Structure of the regulatory apparatus of a calcium-dependent protein kinase (CDPK): a novel mode of calmodulin-target recognition.

C. Dobson, K. Lindorff-Larsen, W. Chazin, 2006, Journal of molecular biology.

Supplemental Data a Coupled Equilibrium Shift Mechanism in Calmodulin-mediated Signal Transduction Comparison with Alternative Simulations Techniques

Jennifer M. Bui, C. Dobson, A. Cavalli, 2022 .

Inborn errors of pyrimidine metabolism: clinical update and therapy

J. Christodoulou, S. Balasubramaniam, J. Duley, 2014, Journal of Inherited Metabolic Disease.

Non-Invasive Estimation of Pulmonary Arterial Hypertension in Chronic Obstructive Pulmonary Disease

J. Christodoulou, G. Trakada, D. Alexopoulos, 1999, Lung.

An integrative approach combining ion mobility mass spectrometry, X-ray crystallography, and nuclear magnetic resonance spectroscopy to study the conformational dynamics of α1-antitrypsin upon ligand binding

J. Irving, D. Lomas, G. Sivalingam, 2015, Protein science : a publication of the Protein Society.

Flow Cytometric Evaluation of Defects of the Mitochondrial Respiratory Chain

J. Christodoulou, A. J. Williams, J. Coakley, 1999, Journal of child neurology.

Enlarged temporal lobes in Turner syndrome: an X-chromosome effect?

Max Coltheart, Pamela Joy, Stacey Kuan, 2004, Cerebral cortex.

The molecular basis of malonyl-CoA decarboxylase deficiency.

J. Tolmie, J. Christodoulou, D. Fitzpatrick, 1999, American journal of human genetics.

Metacarpophalangeal pattern profile and bone age in Rett syndrome: further radiological clues to the diagnosis.

J. Christodoulou, H. Leonard, C. Ellaway, 1999, American journal of medical genetics.

X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype

J. Christodoulou, S. Arbuckle, S. Williamson, 2005, Brain and Development.

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

T. Matsuishi, A. Clarke, J. Christodoulou, 2003, Journal of medical genetics.

A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening

J. Christodoulou, H. Leonard, C. Ellaway, 2001, Clinical dysmorphology.

How to develop a national heart failure clinics network: a consensus document of the Hellenic Heart Failure Association

A. Vasilopoulos, G. Filippatos, G. Siasos, 2020, ESC heart failure.

Predictors of Scoliosis in Rett Syndrome

J. Christodoulou, H. Leonard, P. Jacoby, 2006, Journal of child neurology.

Morphology-Dependent Interactions between α-Synuclein Monomers and Fibrils

J. Christodoulou, S. Linse, A. Malmendal, 2023, International journal of molecular sciences.

Full-length TDP-43 and its C-terminal domain form filaments in vitro having non-amyloid properties

Lisa D. Cabrita, F. Chiti, M. Vivoli Vega, 2020, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

Health Service Use in Rett Syndrome

J. Christodoulou, H. Leonard, N. de Klerk, 2005, Journal of child neurology.

Protein folding on the ribosome studied using NMR spectroscopy

Christopher A. Waudby, Lisa D. Cabrita, J. Christodoulou, 2013, Progress in nuclear magnetic resonance spectroscopy.

Interactions between nascent proteins and the ribosome surface inhibit co-translational folding

Lisa D. Cabrita, Tomasz Włodarski, J. Christodoulou, 2021, Nature Chemistry.

Structure and dynamics of a ribosome-bound nascent chain by NMR spectroscopy

Shang-Te Danny Hsu, Christopher M Dobson, Lisa D. Cabrita, 2007, Proceedings of the National Academy of Sciences.

Heat Shock Protein 70 Inhibits α-Synuclein Fibril Formation via Preferential Binding to Prefibrillar Species*

C. Dobson, J. Christodoulou, Mark R. Wilson, 2005, Journal of Biological Chemistry.

Complex I deficiency in association with structural abnormalities of the diaphragm and brain

J. Christodoulou, C. Ellaway, S. Arbuckle, 1998, Journal of Inherited Metabolic Disease.

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.

V. Mootha, Stacey M Smith, S. Calvo, 2008, American journal of human genetics.

Atypical pyroglutamic aciduria: possible role of paracetamol

G. Brown, J. Christodoulou, J. Pitt, 1990, Journal of Inherited Metabolic Disease.

Flow cytometry in the study of mitochondrial respiratory chain disorders.

J. Christodoulou, D. Thorburn, I. Trounce, 2002, Mitochondrion.

The H50Q Mutation Induces a 10-fold Decrease in the Solubility of α-Synuclein*

Lisa D. Cabrita, A. Schapira, M. Vendruscolo, 2014, The Journal of Biological Chemistry.

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

J. Christodoulou, Z. Stark, K. Rose, 2020, Human mutation.

Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders.

J. Christodoulou, B. Wilcken, J. Hammond, 2002, Metabolism: clinical and experimental.

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Z. Tümer, J. Christodoulou, M. Larsen, 2018, Clinical genetics.

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

J. Christodoulou, K. Bhattacharya, C. Simons, 2017, PloS one.

OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria

J. Christodoulou, K. Carpenter, E. Kirk, 2005, Journal of Inherited Metabolic Disease.

Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient

S. Grimmond, R. Taft, J. Christodoulou, 2014, PloS one.

A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes

Beryl B. Cummings, J. Christodoulou, A. Kornberg, 2023, American journal of medical genetics. Part A.

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

J. Christodoulou, S. Rahman, F. Scaglia, 2021, Advanced genetics.

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.

W. Chung, I. Helbig, J. Christodoulou, 2020, American journal of human genetics.

The importance of loop length in the folding of an immunoglobulin domain.

C. Dobson, J. Clarke, C. Wright, 2004, Protein engineering, design & selection : PEDS.

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

T. Roscioli, Meredith Wilson, J. Christodoulou, 2020, Human mutation.

Clinical approach to inborn errors of metabolism presenting in the newborn period

J. Christodoulou, C. Ellaway, B. Wilcken, 2002, Journal of paediatrics and child health.

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

A. Singleton, T. Rinne, J. Christodoulou, 2018, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

DE NOVO VARIANTS IN FBXW7 ASSOCIATED WITH A VARIABLE NEURODEVELOPMENTAL AND CONGENITAL ANOMALY PHENOTYPE

W. Chung, O. Devinsky, A. Gupta, 2020 .

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

S. Scherer, C. Marshall, S. Wodak, 2018, Genetics in Medicine.

A strategy for co-translational folding studies of ribosome-bound nascent chain complexes using NMR spectroscopy

Amy L. Robertson, Lisa D. Cabrita, J. Christodoulou, 2016, Nature Protocols.

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency

M. Cowley, T. Roscioli, J. Christodoulou, 2017, Journal of Inherited Metabolic Disease.

Early Nascent Chain Folding Events on the Ribosome

Lisa D. Cabrita, C. Dobson, J. Christodoulou, 2010 .

Protein folding on the ribosome.

Lisa D. Cabrita, C. Dobson, J. Christodoulou, 2010, Current opinion in structural biology.

NMR Lineshape Analysis of Intrinsically Disordered Protein Interactions

J. Christodoulou, C. Waudby, 2020, Methods in molecular biology.

Increasing the sensitivity of NMR diffusion measurements by paramagnetic longitudinal relaxation enhancement, with application to ribosome–nascent chain complexes

Lisa D. Cabrita, J. Christodoulou, C. Waudby, 2015, Journal of biomolecular NMR.

In-Cell NMR Characterization of the Secondary Structure Populations of a Disordered Conformation of α-Synuclein within E. coli Cells

Lisa D. Cabrita, C. Dobson, M. Vendruscolo, 2013, PloS one.

1H, 15N and 13C assignments of domain 5 of Dictyostelium discoideum gelation factor (ABP-120) in its native and 8M urea-denatured states

Lisa D. Cabrita, C. Dobson, J. Christodoulou, 2009, Biomolecular NMR assignments.

InterRett and RettBASE: International Rett Syndrome Association Databases for Rett Syndrome

J. Christodoulou, H. Leonard, N. de Klerk, 2003, Journal of child neurology.

Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity

Mark S. Anderson, J. Casanova, J. Fellay, 2022, Journal of Allergy and Clinical Immunology.

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

F. Muntoni, Silvio Alessandro Di Gioia, A. O’Donnell-Luria, 2022, Human mutation.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

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

L. Vissers, H. Waterham, J. Christodoulou, 2018, American journal of human genetics.

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

J. Christodoulou, J. Cardinal, W. Gold, 2018, Molecular genetics and metabolism.

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

D. MacArthur, A. Pagnamenta, N. Popitsch, 2015, Human molecular genetics.

Probing the dynamic stalk region of the ribosome using solution NMR

Lisa D. Cabrita, C. Dobson, M. Vendruscolo, 2019, Scientific Reports.

Developing NMR methods for macromolecular machines: Measurement of residual dipolar couplings to probe dynamic regions of the ribosome

Lisa D. Cabrita, C. Dobson, M. Vendruscolo, 2018, bioRxiv.

Application of Lysine-specific Labeling to Detect Transient Interactions Present During Human Lysozyme Amyloid Fibril Formation

C. Dobson, X. Salvatella, J. Christodoulou, 2017, Scientific Reports.

Cytochrome display on amyloid fibrils.

Christopher M Dobson, Cait E MacPhee, C. Dobson, 2006, Journal of the American Chemical Society.

Family data in Rett syndrome: Association with other genetic disorders

J. Christodoulou, H. Leonard, A. Hockey, 2000, Journal of paediatrics and child health.

Structural characterization of the interaction of α-synuclein nascent chains with the ribosomal surface and trigger factor

Carlo Camilloni, Christopher A. Waudby, Michele Vendruscolo, 2016, Proceedings of the National Academy of Sciences.

Measurement of amyloid fibril length distributions by inclusion of rotational motion in solution NMR diffusion measurements.

C. Dobson, G. Lippens, J. Christodoulou, 2008, Angewandte Chemie.

Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

M. Cowley, M. Dinger, A. Minoche, 2022, Neurology.

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Michael R Stratton, N. Brown, I. Scheffer, 2009, Journal of Medical Genetics.

MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors

J. Christodoulou, W. Gold, L. Cantrill, 2014, Journal of Molecular Medicine.

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

Ayesha Ahmad, J. Christodoulou, J. V. Van Hove, 2016, The Journal of pediatrics.

Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation

J. Christodoulou, Rocio Rius, S. Balasubramaniam, 2021, European Journal of Human Genetics.

An analysis of NMR sensitivity enhancements obtained using non-uniform weighted sampling, and the application to protein NMR.

J. Christodoulou, C. Waudby, 2012, Journal of magnetic resonance.

Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.

P. Lockhart, V. Wickramasinghe, J. Christodoulou, 2021, Human molecular genetics.

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

A. Hannan, S. Leang, P. Tam, 2016, Developmental neurobiology.

The Interaction of αB-Crystallin with Mature α-Synuclein Amyloid Fibrils Inhibits Their Elongation

C. Dobson, J. Skepper, M. Welland, 2010, Biophysical journal.

Nascent chain dynamics and ribosome interactions within folded ribosome–nascent chain complexes observed by NMR spectroscopy

Lisa D. Cabrita, Tomasz Włodarski, J. Christodoulou, 2021, Chemical science.

1H, 13C and 15N assignments of a camelid nanobody directed against human α-synuclein

C. Dobson, L. Wyns, E. Pardon, 2009, Biomolecular NMR assignments.

Perimortem laboratory investigation of genetic metabolic disorders.

Bridget Wilcken, J. Christodoulou, B. Wilcken, 2004, Seminars in neonatology : SN.

Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features.

J. Christodoulou, B. Wilcken, J. Hammond, 1995, The Journal of pediatrics.

An HflX-Type GTPase from Sulfolobus solfataricus Binds to the 50S Ribosomal Subunit in All Nucleotide-Bound States

D. C. Swarts, Lisa D. Cabrita, J. Christodoulou, 2011, Journal of bacteriology.

Novel Small Molecules Targeting the Intrinsically Disordered Structural Ensemble of α-Synuclein Protect Against Diverse α-Synuclein Mediated Dysfunctions

D. Agard, E. Masliah, G. Tóth, 2019, Scientific Reports.

Thermodynamics of co-translational folding and ribosome-nascent chain interactions.

Lisa D. Cabrita, J. Christodoulou, C. Waudby, 2022, Current opinion in structural biology.

MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases

W. Reardon, J. Christodoulou, U. Engelke, 2023, Journal of inherited metabolic disease.

On the mechanism of nonspecific inhibitors of protein aggregation: dissecting the interactions of alpha-synuclein with Congo red and lacmoid.

C. Dobson, G. Tóth, M. Vendruscolo, 2009, Biochemistry.

Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis.

R. Mcinnes, J. Christodoulou, I. Tein, 1994, The Journal of pediatrics.

Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?

J. Savulescu, J. Christodoulou, D. Vears, 2023, Pharmacogenomics and personalized medicine.

New scenarios of protein folding can occur on the ribosome.

Michele Vendruscolo, Christopher M Dobson, Edward P O'Brien, 2011, Journal of the American Chemical Society.

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

S. Sandaradura, K. Kassahn, Meredith Wilson, 2023, Nature Medicine.

Analysis of Conformational Exchange Processes using Methyl-TROSY-Based Hahn Echo Measurements of Quadruple-Quantum Relaxation

J. Christodoulou, C. Waudby, 2021, bioRxiv.

Cyclin-Dependent Kinase-Like 5 ( CDKL 5 ) Mutation Screening in Rett Syndrome and Related Disorders

I. Scheffer, J. Gécz, J. Christodoulou, 2010 .

Phosphoribosylpyrophosphate synthetase superactivity

J. Christodoulou, A. Brouwer, J. Duley, 2015 .

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS‐I

S. Nabuurs, H. van Bokhoven, J. Christodoulou, 2012, American journal of medical genetics. Part A.

1H, 15N and 13C backbone resonance assignments of the archetypal serpin α1-antitrypsin

Lisa D. Cabrita, J. Christodoulou, B. Gooptu, 2011, Biomolecular NMR assignments.

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

A. V. van Kuilenburg, J. Christodoulou, M. Huemer, 2021, Molecular genetics and metabolism reports.

Transient tertiary structure formation within the ribosome exit port.

Michele Vendruscolo, Shang-Te Danny Hsu, Christopher M Dobson, 2010, Journal of the American Chemical Society.

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Pedro Rebelo-Guiomar, L. Van Haute, M. Minczuk, 2023, Nature Communications.

A non-natural variant of human lysozyme (I59T) mimics the in vitro behaviour of the I56T variant that is responsible for a form of familial amyloidosis.

C. Dobson, C. Robinson, J. Christodoulou, 2010, Protein engineering, design & selection : PEDS.

Engineering a camelid antibody fragment that binds to the active site of human lysozyme and inhibits its conversion into amyloid fibrils.

C. Dobson, L. Wyns, S. Muyldermans, 2008, Biochemistry.

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

R. Hofstra, J. Christodoulou, C. Bole-Feysot, 2020, American journal of human genetics.

Storing paediatric genomic data for sequential interrogation across the lifespan.

J. Savulescu, J. Christodoulou, D. Vears, 2023, Journal of medical ethics.

Medium-term open label trial of L-carnitine in Rett syndrome

J. Christodoulou, H. Leonard, C. Ellaway, 2001, Brain and Development.

A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.

J. Christodoulou, S. Menahem, J. Rogers, 1988, Journal of medical genetics.

A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect.

R. Mcinnes, J. Christodoulou, R. Cotton, 1995, Journal of medical genetics.

Clinical evaluation and emergency management of inborn errors of metabolism presenting in the newborn.

J. Christodoulou, 2003, The Southeast Asian journal of tropical medicine and public health.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

E. Zackai, J. Lupski, T. Strom, 2023, Brain : a journal of neurology.

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Mark S. Anderson, P. Gregersen, R. Nussbaum, 2021, Science Immunology.

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

Laura E. Covill, P. Gregersen, J. Casanova, 2022, The Journal of experimental medicine.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Tiong, Kinga, J. Christodoulou, 2023, medRxiv.

Biophysical Interactions Underpin the Emergence of Information in the Genetic Code

J. Christodoulou, N. Lane, S. Harrison, 2023, Life.

Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.

J. Christodoulou, C. Ellaway, S. Thompson, 2023, Genes.

Rapid whole‐genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease

J. Christodoulou, T. Dudding-Byth, Z. Stark, 2023, Pediatric blood & cancer.

Rett syndrome: clinical characteristics and recent genetic advances

J. Christodoulou, C. Ellaway, C. Christodoulou, 2001, Disability and rehabilitation.

Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well‐Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population

J. Christodoulou, H. Leonard, P. Jacoby, 2018, The Journal of pediatrics.

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

N. Brown, J. Christodoulou, Z. Stark, 2022, International journal of molecular sciences.

Spinocerebellar ataxia type 7: A distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation

J. Christodoulou, S. Healey, JR Grigg, 2001, Journal of paediatrics and child health.

Repolarization abnormalities with prolonged hyperventilation in apparently healthy subjects: incidence, mechanisms and affecting factors.

J. Christodoulou, D. Alexopoulos, G. Hahalis, 1996, European heart journal.

Quantifying constraint in the human mitochondrial genome

Kristen M. Laricchia, S. Sunyaev, D. Arking, 2023, bioRxiv.

Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency

H. Hakonarson, Yiran Guo, V. Fung, 2019, Neurology.

Intramolecular activation of a Ca(2+)-dependent protein kinase is disrupted by insertions in the tether that connects the calmodulin-like domain to the kinase.

W. Chazin, J. Christodoulou, J. Harper, 2000, Biochemistry.

PLATFORM F: Protein Dynamics - Experiment & Simulation

C. Dobson, M. Vendruscolo, J. Christodoulou, 2011 .

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants.

J. Christodoulou, H. Steinkellner, B. Scheiber-Mojdehkar, 2020, Journal of Visualized Experiments.

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

V. Mootha, M. Lek, S. Calvo, 2023, Human Molecular Genetics.

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS‐I

S. Nabuurs, H. van Bokhoven, J. Christodoulou, 2012, American journal of medical genetics. Part A.

258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands

Marni J. Falk, H. Prokisch, A. Rötig, 2023, Neuromuscular Disorders.

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

Marni J. Falk, V. Mootha, E. Schadt, 2018, American journal of human genetics.

Erratum: Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome (The American Journal of Human Genetics (2017) 101(2) (239–254) (S0002929717302835) (10.1016/j.ajhg.2017.07.005))

Eric E. Schadt, Nathalie Boddaert, Aleksandra Filipovska, 2018 .

Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome

D. Sillence, Robert L L Smith, Peter Shaw, 2009, Journal of paediatrics and child health.

Metastability of native proteins and the phenomenon of amyloid formation.

Glyn L. Devlin, C. Dobson, M. Vendruscolo, 2011, Journal of the American Chemical Society.

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

V. Mootha, Michael Springer, J. Christodoulou, 2013, Human molecular genetics.

1H, 13C and 15N assignments of a camelid nanobody directed against human α-synuclein

C. Dobson, L. Wyns, E. Pardon, 2009, Biomolecular NMR assignments.

Probing ribosome-nascent chain complexes produced in vivo by NMR spectroscopy

Lisa D. Cabrita, C. Dobson, J. Christodoulou, 2009, Proceedings of the National Academy of Sciences.

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

M. Cowley, A. Minoche, C. Sue, 2020, Genetics in Medicine.

Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience.

John J. Mitchell, J. Christodoulou, C. Ellaway, 2005, Molecular genetics and metabolism.

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

P. Rustin, N. Laing, J. Christodoulou, 2013, American journal of human genetics.

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Marni J. Falk, Lishuang Shen, B. Harding, 2023, Annals of neurology.

Structure, dynamics and folding of an immunoglobulin domain of the gelation factor (ABP-120) from Dictyostelium discoideum.

Lisa D. Cabrita, C. Dobson, J. Christodoulou, 2009, Journal of molecular biology.

Thermodynamic profiles for co-translational trigger factor function

Lisa D. Cabrita, J. Christodoulou, T. Knowles, 2023, bioRxiv.

1H, 15N and 13C backbone resonance assignments of the archetypal serpin α1-antitrypsin

Lisa D. Cabrita, J. Christodoulou, B. Gooptu, 2011, Biomolecular NMR Assignments.

Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain

J. Christodoulou, A. El-Osta, B. Slobedman, 2010, BMC Neuroscience.

Rare disease: a national survey of paediatricians’ experiences and needs

J. Christodoulou, Y. Zurynski, M. Deverell, 2017, BMJ Paediatrics Open.

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

P. Huppke, S. Kaler, J. Christodoulou, 2012, American journal of human genetics.

L55P Transthyretin Accelerates Subunit Exchange and Leads to Rapid Formation of Hybrid Tetramers*

C. Robinson, E. Bromley, J. Christodoulou, 2005, Journal of Biological Chemistry.