John Christodoulou
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Australian geneticist
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John Christodoulou biology Degrees
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Genetics
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Biology
John Christodoulou 's Degrees
- PhD Genetics University of Melbourne
Why Is John Christodoulou Influential?
(Suggest an Edit or Addition)According to Wikipedia, John Christodoulou is an Australian medical geneticist, genetic pathologist and clinical scientist. He is director of the Genetics Theme and Group Co-Leader of the Brain and Mitochondrial Research Group at Murdoch Children's Research Institute. Additionally, he holds the Chair in Genomic Medicine, Department of Paediatrics, The University of Melbourne.
John Christodoulou 's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Rett syndrome: Revised diagnostic criteria and nomenclature (2010) (1038)
- Leigh syndrome: Clinical features and biochemical and DNA abnormalities (1996) (717)
- Mapping long-range interactions in alpha-synuclein using spin-label NMR and ensemble molecular dynamics simulations. (2005) (605)
- Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. (1992) (477)
- Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. (2004) (458)
- Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing (2012) (435)
- Metastability of native proteins and the phenomenon of amyloid formation. (2011) (357)
- Cisplatin Binding Sites on Human Albumin* (1998) (302)
- Rett syndrome in Australia: a review of the epidemiology. (2006) (299)
- Multi-metal binding site of serum albumin. (1998) (260)
- Heat Shock Protein 70 Inhibits α-Synuclein Fibril Formation via Preferential Binding to Prefibrillar Species* (2005) (239)
- The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy (2012) (222)
- Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. (2010) (211)
- Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice. (2006) (209)
- Rett syndrome: clinical review and genetic update (2005) (197)
- Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society (2017) (179)
- Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome –Mecp2 gene dosage effects and BDNF expression (2008) (178)
- Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. (2008) (175)
- Early onset seizures and Rett-like features associated with mutations in CDKL5 (2005) (174)
- RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution (2003) (164)
- Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. (2011) (154)
- Guidelines for reporting clinical features in cases with MECP2 mutations (2001) (150)
- Structure and properties of a complex of α-synuclein and a single-domain camelid antibody. (2010) (148)
- Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR) (2007) (144)
- Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 (2013) (141)
- Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years (2009) (141)
- Cytochrome display on amyloid fibrils. (2006) (139)
- Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. (1998) (136)
- Phenylketonuria: a review of current and future treatments. (2015) (134)
- The Interaction of αB-Crystallin with Mature α-Synuclein Amyloid Fibrils Inhibits Their Elongation (2010) (134)
- Two-Dimensional NMR Lineshape Analysis (2016) (132)
- Rett syndrome: new clinical and molecular insights (2006) (130)
- Effects of MECP2 mutation type, location and X‐inactivation in modulating Rett syndrome phenotype (2003) (130)
- Human genetic and immunological determinants of critical COVID-19 pneumonia (2022) (126)
- Chaperone proteostasis in Parkinson's disease: stabilization of the Hsp70/α‐synuclein complex by Hip (2009) (126)
- A Coupled Equilibrium Shift Mechanism in Calmodulin-Mediated Signal Transduction (2008) (124)
- Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia (2010) (122)
- Structure and dynamics of a ribosome-bound nascent chain by NMR spectroscopy (2007) (122)
- Targeting the Intrinsically Disordered Structural Ensemble of α-Synuclein by Small Molecules as a Potential Therapeutic Strategy for Parkinson’s Disease (2014) (122)
- Protein folding on the ribosome. (2010) (119)
- Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. (2020) (113)
- A structural ensemble of a ribosome-nascent chain complex during co-translational protein folding (2016) (111)
- The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study. (2007) (110)
- Predictors of seizure onset in Rett syndrome. (2006) (110)
- Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays (2017) (108)
- Describing the phenotype in Rett syndrome using a population database (2003) (107)
- Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. (2014) (106)
- 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 (2006) (103)
- Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression (2013) (103)
- Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing (2016) (103)
- Barth syndrome: clinical observations and genetic linkage studies. (1994) (102)
- On the mechanism of nonspecific inhibitors of protein aggregation: dissecting the interactions of alpha-synuclein with Congo red and lacmoid. (2009) (101)
- Maternal riboflavin deficiency, resulting in transient neonatal‐onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B (2011) (101)
- RettBASE: Rett syndrome database update (2017) (101)
- Stable intermediate states and high energy barriers in the unfolding of GFP. (2007) (100)
- Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study (2015) (99)
- Molecular determinants of the aggregation behavior of α‐ and β‐synuclein (2008) (98)
- Refining the phenotype of common mutations in Rett syndrome (2004) (97)
- Early progressive encephalopathy in boys and MECP2 mutations (2006) (97)
- PRPS1 mutations: four distinct syndromes and potential treatment. (2010) (94)
- Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. (2013) (93)
- Probing ribosome-nascent chain complexes produced in vivo by NMR spectroscopy (2009) (90)
- In-Cell NMR Characterization of the Secondary Structure Populations of a Disordered Conformation of α-Synuclein within E. coli Cells (2013) (89)
- New scenarios of protein folding can occur on the ribosome. (2011) (87)
- Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain (2010) (87)
- Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia (2006) (86)
- Early copper-histidine treatment for Menkes disease (1996) (86)
- Potential of AAV vectors in the treatment of metabolic disease (2008) (86)
- Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? (2003) (85)
- Autonomic cardiovascular neuropathy in Sjögren's syndrome. A controlled study. (1998) (85)
- Heteronuclear NMR investigations of dynamic regions of intact Escherichia coli ribosomes. (2004) (85)
- Type 2 Gaucher disease: the collodion baby phenotype revisited (2000) (84)
- The Genetic Landscape and Epidemiology of Phenylketonuria. (2020) (84)
- Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. (2012) (83)
- Seizures in Rett syndrome: an overview from a one-year calendar study. (2007) (82)
- Nanobodies raised against monomeric α-synuclein distinguish between fibrils at different maturation stages. (2013) (82)
- Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families (2009) (81)
- Arts syndrome is caused by loss-of-function mutations in PRPS1. (2007) (78)
- A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders (2017) (78)
- 1H NMR of albumin in human blood plasma: drug binding and redox reactions at Cys34 (1995) (77)
- Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin. (1997) (76)
- Transient tertiary structure formation within the ribosome exit port. (2010) (75)
- Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). (1999) (74)
- Trigger factor slows co-translational folding through kinetic trapping while sterically protecting the nascent chain from aberrant cytosolic interactions. (2012) (73)
- A new structural transition of serum albumin dependent on the state of Cys34. Detection by 1H-NMR spectroscopy. (1994) (72)
- MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. (2016) (72)
- An international classification of inherited metabolic disorders (ICIMD) (2020) (71)
- There is variability in the attainment of developmental milestones in the CDKL5 disorder (2015) (71)
- Nature and Regulation of Protein Folding on the Ribosome (2019) (71)
- Predictors of Scoliosis in Rett Syndrome (2006) (68)
- Engineering a camelid antibody fragment that binds to the active site of human lysozyme and inhibits its conversion into amyloid fibrils. (2008) (68)
- Evidence for Differing Roles for Each Lobe of the Calmodulin-like Domain in a Calcium-dependent Protein Kinase* (2004) (68)
- Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. (2017) (68)
- Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies (2015) (68)
- Structure of the regulatory apparatus of a calcium-dependent protein kinase (CDPK): a novel mode of calmodulin-target recognition. (2006) (65)
- Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities. (2017) (65)
- Ornithine transcarbamylase deficiency presenting with strokelike episodes. (1993) (65)
- Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder (2016) (65)
- Updating the profile of C-terminal MECP2 deletions in Rett syndrome (2009) (63)
- A population‐based approach to the investigation of osteopenia in Rett syndrome (1999) (63)
- L55P Transthyretin Accelerates Subunit Exchange and Leads to Rapid Formation of Hybrid Tetramers* (2005) (60)
- Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband (2007) (60)
- Australian Genomics: A Federated Model for Integrating Genomics into Healthcare. (2019) (60)
- A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. (2014) (60)
- Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. (2015) (60)
- LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. (2015) (59)
- Rett Syndrome: Randomized Controlled Trial of L-Carnitine (1999) (59)
- Glutaric aciduria type I: outcome following detection by newborn screening (2008) (59)
- MECP2 genomic structure and function: insights from ENCODE (2008) (59)
- Immunological features of α-synuclein in Parkinson's disease (2008) (58)
- A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain (2012) (57)
- Functional abilities in children and adults with the CDKL5 disorder (2016) (57)
- Distinct expression profiles of Mecp2 transcripts with different lengths of 3'UTR in the brain and visceral organs during mouse development. (2005) (56)
- Prolonged QT interval in Rett syndrome (1999) (56)
- Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): implications for the disease phenotype. (2014) (55)
- A Relationship between the Transient Structure in the Monomeric State and the Aggregation Propensities of α-Synuclein and β-Synuclein (2014) (55)
- Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia (2013) (54)
- Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. (2013) (53)
- Update on transcobalamin deficiency: clinical presentation, treatment and outcome (2014) (53)
- NTNG1 mutations are a rare cause of Rett syndrome (2006) (53)
- Disorders of riboflavin metabolism (2019) (53)
- The Natural History of Scoliosis in Females With Rett Syndrome (2016) (52)
- Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy (2018) (52)
- Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia. (2016) (51)
- Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography. (2005) (51)
- Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group. (1995) (51)
- The H50Q Mutation Induces a 10-fold Decrease in the Solubility of α-Synuclein* (2014) (51)
- Structural characterization of the interaction of α-synuclein nascent chains with the ribosomal surface and trigger factor (2016) (50)
- The molecular basis of malonyl-CoA decarboxylase deficiency. (1999) (50)
- Volumetric bone mineral density and bone geometry assessed by peripheral quantitative computed tomography in women with differentiated thyroid cancer under TSH suppression (2015) (49)
- Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders. (2002) (48)
- Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration (2001) (48)
- X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype (2005) (47)
- Solid organ transplantation in primary mitochondrial disease: Proceed with caution. (2016) (46)
- Medium-term open label trial of L-carnitine in Rett syndrome (2001) (46)
- Measurement of amyloid fibril length distributions by inclusion of rotational motion in solution NMR diffusion measurements. (2008) (45)
- Probing side-chain dynamics of a ribosome-bound nascent chain using methyl NMR spectroscopy. (2009) (44)
- MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors (2014) (44)
- Enlarged temporal lobes in Turner syndrome: an X-chromosome effect? (2004) (44)
- Allogeneic bone marrow transplantation: cure for familial Mediterranean fever. (2002) (44)
- D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile (2016) (43)
- p.R270X MECP2 mutation and mortality in Rett syndrome (2005) (41)
- Genetic defects causing mitochondrial respiratory chain disorders and disease. (2000) (41)
- Rationalising lysozyme amyloidosis: insights from the structure and solution dynamics of T70N lysozyme. (2005) (41)
- Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. (2007) (41)
- 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype (2012) (40)
- Protein folding on the ribosome studied using NMR spectroscopy (2013) (40)
- Studying severe long COVID to understand post-infectious disorders beyond COVID-19 (2022) (40)
- Clinical approach to inborn errors of metabolism presenting in the newborn period (2002) (40)
- Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine. (2014) (39)
- Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience. (2005) (39)
- Rare disease: a national survey of paediatricians’ experiences and needs (2017) (39)
- 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 (2015) (39)
- A strategy for co-translational folding studies of ribosome-bound nascent chain complexes using NMR spectroscopy (2016) (38)
- New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. (2005) (38)
- Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders (2010) (38)
- NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses (2018) (37)
- Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2 (2005) (37)
- InterRett and RettBASE: International Rett Syndrome Association Databases for Rett Syndrome (2003) (37)
- A nanobody binding to non-amyloidogenic regions of the protein human lysozyme enhances partial unfolding but inhibits amyloid fibril formation. (2013) (37)
- Genotype and early development in Rett syndrome: The value of international data (2005) (37)
- Inborn errors of pyrimidine metabolism: clinical update and therapy (2014) (36)
- MECP2 and Beyond: Phenotype—Genotype Correlations in Rett Syndrome (2003) (36)
- Rapid distinction of intracellular and extracellular proteins using NMR diffusion measurements. (2012) (36)
- Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase (2012) (36)
- Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders (2005) (35)
- Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness (2007) (35)
- Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases (2017) (35)
- Rett syndrome: Clinical update and review of recent genetic advances (1999) (35)
- How Does the Ribosome Fold the Proteome? (2020) (35)
- The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome (2009) (34)
- The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease (2020) (34)
- Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease (2016) (34)
- Inborn errors of purine metabolism: clinical update and therapies (2014) (33)
- MECP2-Related Disorders (2012) (32)
- Atypical pyroglutamic aciduria: possible role of paracetamol (1990) (32)
- Structural Dynamics Associated with Intermediate Formation in an Archetypal Conformational Disease (2012) (32)
- Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy (2019) (32)
- Surfactant protein B deficiency: Clinical, histological and molecular evaluation (1999) (31)
- Alleviating Transcriptional Inhibition of the Norepinephrine Slc6a2 Transporter Gene in Depolarized Neurons (2010) (31)
- Systematic mapping of free energy landscapes of a growing filamin domain during biosynthesis (2018) (31)
- A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G. (1999) (30)
- Repolarization abnormalities with prolonged hyperventilation in apparently healthy subjects: incidence, mechanisms and affecting factors. (1996) (30)
- Diagnosis of ‘possible’ mitochondrial disease: an existential crisis (2019) (30)
- Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon (2019) (30)
- Metacarpophalangeal pattern profile and bone age in Rett syndrome: further radiological clues to the diagnosis. (1999) (30)
- Automated analysis of mitochondrial enzymes in cultured skin fibroblasts. (1998) (30)
- The ribosome and its role in protein folding: looking through a magnifying glass (2017) (29)
- Structure, dynamics and folding of an immunoglobulin domain of the gelation factor (ABP-120) from Dictyostelium discoideum. (2009) (29)
- The PRPP Synthetase Spectrum: What Does it Demonstrate About Nucleotide Syndromes? (2011) (29)
- A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features. (1988) (29)
- Costeff optic atrophy syndrome: New clinical case and novel molecular findings (2008) (29)
- Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. (2020) (28)
- Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. (2019) (28)
- Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes. (2009) (28)
- 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. (2000) (28)
- 1H, 13C and 15N assignments of a camelid nanobody directed against human α-synuclein (2009) (28)
- Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders (2021) (28)
- 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 (2007) (28)
- De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome (2018) (28)
- 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 (2009) (28)
- Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations. (2002) (27)
- Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy (2013) (26)
- Prognostic significance of coronary artery calcium in asymptomatic subjects with usual cardiovascular risk. (2003) (26)
- Trimethylaminuria: An under‐recognised and socially debilitating metabolic disorder (2012) (26)
- Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome (2012) (25)
- A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection (2021) (25)
- 1H, 15N and 13C assignments of domain 5 of Dictyostelium discoideum gelation factor (ABP-120) in its native and 8M urea-denatured states (2009) (25)
- Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts. (1993) (25)
- Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy (2018) (25)
- Intragenic Complementation at the Human Argininosuccinate Lyase Locus (1997) (24)
- Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome (2003) (24)
- Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β (2021) (24)
- Phenylketonuria: translating research into novel therapies. (2014) (24)
- In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria (2013) (23)
- Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease (2017) (23)
- A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia (2017) (23)
- Experience of Gastrostomy Using a Quality Care Framework: The Example of Rett Syndrome (2014) (23)
- Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP‐B) deficiency (2006) (23)
- Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. (2018) (23)
- An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples (2011) (23)
- Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus. (2020) (23)
- Health Service Use in Rett Syndrome (2005) (23)
- An analysis of NMR sensitivity enhancements obtained using non-uniform weighted sampling, and the application to protein NMR. (2012) (23)
- Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency (2017) (22)
- Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. (2020) (22)
- Contribution of rotational diffusion to pulsed field gradient diffusion measurements. (2007) (22)
- Utility of next‐generation sequencing technologies for the efficient genetic resolution of haematological disorders (2016) (22)
- Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis. (2018) (22)
- An HflX-Type GTPase from Sulfolobus solfataricus Binds to the 50S Ribosomal Subunit in All Nucleotide-Bound States (2011) (22)
- Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS‐I (2012) (22)
- First prenatal diagnosis of the carnitine transporter defect. (1996) (22)
- Binding of Monovalent and Bivalent Ligands by Transthyretin Causes Different Short- and Long-Distance Conformational Changes (2019) (21)
- Rett Syndrome: Significant Clinical Overlap With Angelman Syndrome but Not With Methylation Status (1998) (21)
- 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. (2005) (21)
- Metabolic stroke in methylmalonic acidemia. (1989) (21)
- Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants (2021) (20)
- The extremely slow‐exchanging core and acid‐denatured state of green fluorescent protein (2008) (20)
- Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis. (1994) (20)
- The importance of loop length in the folding of an immunoglobulin domain. (2004) (20)
- Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. (1989) (20)
- Affective dysfunction in a mouse model of Rett syndrome: Therapeutic effects of environmental stimulation and physical activity (2016) (20)
- The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments (2020) (20)
- Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions (2020) (20)
- 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) (2020) (20)
- Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder (2020) (19)
- Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature (2019) (19)
- Hemodynamic response to hyperventilation test in healthy volunteers (1995) (19)
- Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease (2016) (18)
- Respiratory chain complex III deficiency with pruritus: A novel vitamin responsive clinical feature (1999) (18)
- Determination of gold and platinum in the presence of blood plasma proteins using inductively coupled plasma mass spectrometry with direct injection nebulization (1996) (18)
- 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. (2010) (18)
- Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs (2022) (18)
- Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients. (2012) (17)
- The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2 (2018) (17)
- Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing (2019) (17)
- Novel Small Molecules Targeting the Intrinsically Disordered Structural Ensemble of α-Synuclein Protect Against Diverse α-Synuclein Mediated Dysfunctions (2019) (17)
- The Significance of the Location of Mutations for the Native-State Dynamics of Human Lysozyme (2016) (17)
- Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy (2020) (17)
- 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)) (2018) (17)
- Cerebral hypomyelination associated with biallelic variants of FIG4 (2019) (16)
- GPU accelerated Monte Carlo simulation of pulsed-field gradient NMR experiments. (2011) (16)
- Non-Invasive Estimation of Pulmonary Arterial Hypertension in Chronic Obstructive Pulmonary Disease (1999) (16)
- Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome. (1990) (16)
- Targeting serpins in high-throughput and structure-based drug design. (2011) (16)
- Intragenic complementation at the argininosuccinate lyase locus: Reconstruction of the active site (1998) (16)
- Clinical genomic testing: what matters to key stakeholders? (2020) (16)
- Perimortem laboratory investigation of genetic metabolic disorders. (2004) (15)
- Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 (2020) (15)
- Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features. (1995) (15)
- The association of protein-losing enteropathy with cobalamin C defect (1998) (15)
- Parental health spillover effects of paediatric rare genetic conditions (2020) (15)
- Homocysteine measurement in dried blood spot for neonatal detection of homocystinurias. (2011) (14)
- Diagnosis of Rett syndrome: can a radiograph help? (1998) (14)
- Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction (2017) (14)
- Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency (2021) (14)
- OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria (2005) (14)
- Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (2019) (14)
- Pregnancy and argininosuccinic aciduria (1996) (14)
- Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype (2014) (14)
- Spontaneous assembly of redox-active iron-sulfur clusters at low concentrations of cysteine (2021) (14)
- A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect. (1995) (14)
- Understanding Rett syndrome (2002) (14)
- Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome (2009) (14)
- Two-dimensional NMR lineshape analysis of single, multiple, zero and double quantum correlation experiments (2019) (14)
- Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants (2019) (14)
- Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). (2016) (13)
- Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. (2020) (13)
- Autopsy findings in two siblings with infantile Refsum disease (2004) (13)
- The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome (2015) (13)
- Nascent chains can form co-translational folding intermediates that promote post-translational folding outcomes in a disease-causing protein (2021) (13)
- The implication of phenylketonuria on oral health. (1999) (13)
- Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features (2020) (12)
- Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A) (2020) (12)
- Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6. (2019) (12)
- The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy (2020) (12)
- Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect (2015) (12)
- Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease. (2016) (12)
- A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases (2007) (12)
- Interactions between nascent proteins and the ribosome surface inhibit co-translational folding (2021) (11)
- A girl with duplication 17p10‐p12 associated with a dicentric chromosome (2004) (11)
- Archaeal MBF1 binds to 30S and 70S ribosomes via its helix-turn-helix domain. (2014) (11)
- 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. (2016) (11)
- Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child. (2019) (11)
- Coronary artery calcium detected by digital fluoroscopy and risk factors in healthy subjects. (1996) (10)
- A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction (2017) (10)
- Mitochondrial electron transport chain defect presenting as hypoglycemia. (1997) (10)
- Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10 (2020) (10)
- The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness. (2013) (10)
- Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature. (1999) (10)
- “Reducing body”-like inclusions in skeletal muscle in childhood-onset acid maltase deficiency (2004) (10)
- Vrije Universiteit Brussel Nanobodies Raised against Monomeric alpha-Synuclein Distinguish between Fibrils at Different Maturation Stages (2017) (10)
- Phosphoribosylpyrophosphate synthetase superactivity (2015) (10)
- Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification. (2020) (10)
- Complex I deficiency in association with structural abnormalities of the diaphragm and brain (1998) (9)
- Increasing the sensitivity of NMR diffusion measurements by paramagnetic longitudinal relaxation enhancement, with application to ribosome–nascent chain complexes (2015) (9)
- Flow cytometry in the study of mitochondrial respiratory chain disorders. (2002) (9)
- Flow Cytometric Evaluation of Defects of the Mitochondrial Respiratory Chain (1999) (9)
- Trisomy 21 and Rett syndrome: A double burden (2004) (9)
- Spinocerebellar ataxia type 7: A distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation (2001) (9)
- How to develop a national heart failure clinics network: a consensus document of the Hellenic Heart Failure Association (2020) (9)
- Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase α sites (2006) (9)
- Lesch–Nyhan disease in a 20-year- old man incorrectly described as developing ‘cerebral palsy’ after general anaesthesia in infancy (2006) (9)
- Genome‐wide linkage of obstructive sleep apnoea and high‐density lipoprotein cholesterol in a Filipino family: bivariate linkage analysis of obstructive sleep apnoea (2010) (9)
- Genome‐wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets (2019) (9)
- High-resolution ex vivo NMR spectroscopy of human Z α1-antitrypsin (2020) (9)
- Cross‐Peaks in Simple Two‐Dimensional NMR Experiments from Chemical Exchange of Transverse Magnetisation† (2019) (8)
- A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening (2001) (8)
- Probing the dynamic stalk region of the ribosome using solution NMR (2019) (8)
- Mutations in the exocyst component EXOC2 cause severe defects in human brain development (2020) (8)
- Renal tubular dysfunction associated with alcoholism and liver disease. (1969) (8)
- EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders. (2017) (8)
- Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders. (2021) (8)
- Family satisfaction following spinal fusion in Rett syndrome (2016) (8)
- The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis (2021) (7)
- 1H, 15N and 13C backbone resonance assignments of the archetypal serpin α1-antitrypsin (2011) (7)
- Relation of coronary artery calcium to exercise testing in healthy subjects. (2000) (7)
- Compliance with immunization programmes (1981) (7)
- The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment (2020) (7)
- A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant (2019) (7)
- Family data in Rett syndrome: Association with other genetic disorders (2000) (7)
- Cyclin-Dependent Kinase-Like 5 ( CDKL 5 ) Mutation Screening in Rett Syndrome and Related Disorders (2010) (7)
- Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements (2018) (7)
- Common sequence motifs of nascent chains engage the ribosome surface and trigger factor (2021) (7)
- Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data (2020) (7)
- The mild form of menkes disease: a 34 year progress report on the original case. (2013) (7)
- TRAPPing a neurological disorder: from yeast to humans (2020) (7)
- Visualising nascent chain dynamics at the ribosome exit tunnel by cryo-electron microscopy (2019) (6)
- Coronary arteriographic findings in symptomatic and asymptomatic subjects with coronary artery calcification. (2001) (6)
- Severe subacute necrotizing encephalopathy (Leigh-like syndrome) in American Staffordshire bull terrier dogs. (2013) (6)
- Newborn bloodspot screening in the time of COVID-19 (2021) (6)
- Full-length TDP-43 and its C-terminal domain form filaments in vitro having non-amyloid properties (2020) (6)
- Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment (2021) (6)
- The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening. (2012) (6)
- The effect of emerging nutraceutical interventions for clinical and biological outcomes in multiple sclerosis: A systematic review. (2019) (6)
- ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes (2021) (6)
- NMR Lineshape Analysis of Intrinsically Disordered Protein Interactions (2020) (6)
- A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy. (2018) (6)
- Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet. (2017) (6)
- 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 (2018) (6)
- Application of Lysine-specific Labeling to Detect Transient Interactions Present During Human Lysozyme Amyloid Fibril Formation (2017) (6)
- Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate (2020) (6)
- Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. (2021) (5)
- Optimal design of adaptively sampled NMR experiments for measurement of methyl group dynamics with application to a ribosome-nascent chain complex. (2021) (5)
- Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis (2022) (5)
- Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency (2019) (5)
- Accelerated coronary artery disease in a young woman with pseudoxanthoma elasticum and elevated lipoprotein(a). (1994) (5)
- Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient (2019) (5)
- Nascent chain dynamics and ribosome interactions within folded ribosome–nascent chain complexes observed by NMR spectroscopy (2021) (5)
- The human genome project: opportunities, challenges and consequences for population screening. (2003) (5)
- Clinical evaluation and emergency management of inborn errors of metabolism presenting in the newborn. (2003) (5)
- Priapism: a rare complication of Fabry's disease (1988) (5)
- Hyperinsulinaemia in Syndrome X: A Marker of the Syndrome? (1994) (5)
- Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder (2021) (5)
- Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System (2020) (5)
- A simple and efficient toolset for analysing mitochondrial trafficking in neuronal cells. (2018) (4)
- An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency (1993) (4)
- Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders (2022) (4)
- Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation (2021) (4)
- Adaptation of a mitochondrial complex III assay for automation: examination of reproducibility and precision. (2003) (4)
- Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient (2014) (4)
- Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability (2021) (4)
- Pathogenicity of C-terminal mutations in CDKL5 (2012) (4)
- Automated quantitation of total protein in cultured skin fibroblasts. (1997) (4)
- CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development (2022) (4)
- Gold-Induced Structural Switch of Cys34 in Albumin: Comparison of Auranofin With Aurothiomalate (1994) (4)
- Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia. (2021) (4)
- Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity (2022) (4)
- Novel mitochondrial 16S rRNA polymorphism in a girl with Rett syndrome (1999) (4)
- Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder (2022) (4)
- The ribosome stabilises partially folded intermediates of a nascent multi-domain protein (2022) (4)
- Letter to the Editor: 1H, 15N and 13C assignments of the regulatory domains of calcium-dependent protein kinase (CDPK) (2002) (4)
- Modulating co-translational protein folding by rational design and ribosome engineering (2022) (3)
- Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. (2022) (3)
- Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency) (2021) (3)
- Holocarboxylase synthetase deficiency: Urinary metabolites masked by gross ketosis (2000) (3)
- Abstracts for the Human Genetics Society of Australasia Virtual Conference 24–25 November 2020 (2021) (3)
- Cross-Peaks in Simple 2D NMR Experiments from Chemical Exchange of Transverse Magnetization (2019) (3)
- Ethically utilising COVID-19 host-genomic data (2021) (3)
- Rapid exome sequencing and adjunct rna studies confirm pathogenicity of a novel homozygous asns splicing variant in a critically ill neonate (2020) (3)
- A pilot study of the effect of (e, e)-2, 4-undecadienal on the offensive odour of trimethylamine. (2012) (3)
- Coronary calcium detected by digital cinefluoroscopy and coronary artery disease in patients undergoing coronary arteriography: effects of age and sex. (2003) (3)
- Solution-state nuclear magnetic resonance spectroscopy and protein folding. (2011) (3)
- A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. (2021) (3)
- An electrochemiluminescence based assay for quantitative detection of endogenous and exogenously applied MeCP2 protein variants (2019) (3)
- Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans. (2021) (3)
- Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (2023) (3)
- Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program (2021) (3)
- Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases (2021) (2)
- Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function (2022) (2)
- Optimal design of adaptively sampled NMR experiments for measurement of methyl group dynamics with application to a ribosome-nascent chain complex (2020) (2)
- Response to Newman et al. (2017) (2)
- Cross‐Peaks in Simple Two‐Dimensional NMR Experiments from Chemical Exchange of Transverse Magnetisation (2019) (2)
- An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants. (2020) (2)
- Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease (2021) (2)
- Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. (2022) (2)
- Expression, Purification, Characterization and Cellular Uptake of MeCP2 Variants (2022) (2)
- Retrospective diagnosis of medium chain acyl‐CoA dehydrogenase deficiency (1993) (2)
- Early Nascent Chain Folding Events on the Ribosome (2010) (2)
- The clinical spectrum of cytochrome c deficiency in Leigh syndrome patients with and without mutations in the SURF1 gene (2000) (2)
- Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network (2021) (2)
- LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss (2022) (2)
- An intrinsic temporal order of c-JUN N-terminal phosphorylation regulates its activity by orchestrating co-factor recruitment (2021) (2)
- Mutation Analysis of MECP2 and Determination of the X-Inactivation Pattern in Hungarian Rett Syndrome Patients (2004) (2)
- The Future Challenges for the Clinical Application of Reprogrammed Cells (2014) (2)
- Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis (2022) (2)
- Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: A case report (2007) (2)
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- A novel cause of DKC1‐related bone marrow failure: Partial deletion of the 3′ untranslated region (2021) (1)
- DE NOVO VARIANTS IN FBXW7 ASSOCIATED WITH A VARIABLE NEURODEVELOPMENTAL AND CONGENITAL ANOMALY PHENOTYPE (2020) (1)
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- Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency (2022) (1)
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- Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life (2022) (1)
- Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies (2022) (1)
- H-1, N-15 and C-13 backbone resonance assignments of the archetypal serpin alpha(1)-antitrypsin (2012) (1)
- Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). (2017) (1)
- HIGH PREVALENCE OF LUNG DIFFUSION IMPAIRMENT IN NORMOXAEMIC PATIENTS WITH EARLY LIVER CIRRHOSIS (1998) (1)
- Uniparental Disomy as a Novel Mechanism for Surfactant Protein B (SP-B) Deficiency (1999) (1)
- Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations (2021) (1)
- Reply: Niacin therapy improves outcome and normalizes metabolic abnormalities in a NAXD-deficient patient. (2022) (1)
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- Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (2019) (1)
- Progressive myoclonic epilepsies: Recent genetic advances (1997) (1)
- Squalene Synthase Deficiency (1993) (1)
- Hyperventilation Test in Syndrome X (1996) (1)
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- Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A). (2020) (1)
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- An HflX-Type GTPase from Sulfolobus solfataricus Binds to the 50S Ribosomal Subunit in All Nucleotide-Bound States (cid:1) (2011) (0)
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- Calmodulin complexed with calmodulin-binding peptide from smooth muscle myosin light chain kinase (2008) (0)
- The australian genomics clinical, diagnostic and research network (2022) (0)
- Increasing the sensitivity of NMR diffusion measurements by paramagnetic longitudinal relaxation enhancement, with application to ribosome–nascent chain complexes (2015) (0)
- Any symptom, in any organ, at any age: A case report of multiple genetic diagnoses mimicking mitochondrial disease in an adult with kidney disease (2022) (0)
- Morphology-Dependent Interactions between α-Synuclein Monomers and Fibrils (2023) (0)
- USE OF NMR SPECTROSCOPY AND NANOSPRAY MASS SPECTROMETRY TO CHARACTERISE BINDING OF LEAD COMPOUNDS FOR DRUG DESIGN IN alpha 1-ANTITRYPSIN DEFICIENCY (2010) (0)
- S63 Use of NMR spectroscopy and nanospray mass spectrometry to characterise binding of lead compounds for drug design in α1-antitrypsin deficiency (2010) (0)
- Quantifying constraint in the human mitochondrial genome (2023) (0)
- Table 2. [Phosphoribosylpyrophosphate Synthetase (PRS) Enzyme Activity...]. (2015) (0)
- Drosophila as a diet discovery tool for treating amino acid disorders (2022) (0)
- NMR Spectroscopy Reveals Structural Dynamics Of Alpha1-Antitrypsin In Health And Disease (2011) (0)
- Australian children living with rare diseases: health service use and barriers to accessing care (2023) (0)
- The phenotypic spectrum of germline YARS 2 variants (2018) (0)
- Structural investigation of the folding of an immunoglobulin domain on the ribosome using NMR Spectroscopy (LB197) (2014) (0)
- A national approach to rapid genomic diagnosis in acute paediatrics (2019) (0)
- The structure of the camelid antibody cAbHuL5 in complex with human lysozyme (2013) (0)
- Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency (2021) (0)
- MITOCHONDRIAL RESPIRATORY CHAIN HEPATOPATHIES: ROLE OF LIVER TRANSPLANTATION. A CASE SERIES OF 5 PATIENTS: 1870 (2008) (0)
- Genetic testing for rare disorders: what referring labs want (2009) (0)
- Author Correction: Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network (2022) (0)
- Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease. (2023) (0)
- Co-Translational Protein Folding on the Ribosome: using NMR Spectroscopy to Provide Structure and Dynamics of Ribosome-Nascent Chains (2012) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in MECP2-Related Disorders]. (2012) (0)
- Spontaneous assembly of iron-sulfur clusters at low concentrations of cysteine. (2021) (0)
- Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease. (2023) (0)
- On the Effect of the Ribosome and Trigger Factor on Nascent Chain Protein Folding (2011) (0)
- Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder (2022) (0)
- Structures and Dynamics of Protein Folding on the Ribosome by NMR Spectroscopy (2018) (0)
- Presymptomatic detection of metastatic breast cancer using Non-Invasive Prenatal Testing (NIPT) (2020) (0)
- Survival following surgical correction of scoliosis in Rett syndrome: a population-based study in Australia (2015) (0)
- Table 3. [Molecular Genetic Testing Used in PRS Superactivity]. (2015) (0)
- A syndrome ofepilepsy, dementia, andamelogenesis imperfecta: genetic andclinical features (1988) (0)
- Molecular genetics QA sample exchange program. (2016) (0)
- Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency (2022) (0)
- Systematic mapping of the free energy landscapes of a growing immunoglobulin domain identifies a kinetic intermediate associated with co-translational proline isomerization (2017) (0)
- Backbone 1H, 13C, and 15N Chemical Shift Assignments for ribosomal protein bL12 S89C and with LBT tag (2019) (0)
- Advances in the genetic investigation of SIDS (2013) (0)
- Dhavendra Kumar and Charis Eng (eds): Genomic Medicine: Principles and Practice (Oxford Monographs on Medical Genetics) 2nd Edition (2015) (0)
- The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment (2020) (0)
- University of Southern Denmark Clinician's guide to genes associated with Rett-like phenotypes Investigation of a Danish cohort and review of the literature (2017) (0)
- PDG75 TRENDS IN THE USE OF PATIENT ACCESS SCHEMES AND COMMERCIAL ACCESS ARRANGEMENTS IN HEALTH TECHNOLOGY ASSESSMENTS (HTA) BY THE NATIONAL INSTITUTE FOR HEALTH AND CARE EXCELLENCE (NICE) (2019) (0)
- 1H, 13C, and 15N chemical shift assignments for alpha-synuclein monomer (WT) (2015) (0)
- De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome (2018) (0)
- Syddansk Universitet Clinician ' s guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature (2017) (0)
- Abstracts for the 35th Human Genetics Society of Australasia Annual Scientific Meeting, Gold Coast, Australia July 31–August 3, 2011 (2011) (0)
- Abstracts for the 39th Human Genetics Society of Australasia Annual Scientific Meeting Plenaries and Orals (2015) (0)
- Hereditary metabolic disease in infancy: new concepts and new disorders (1992) (0)
- Quality assurance program review for somatic cancer modules. (2016) (0)
- Spinal Fusion Satisfaction Questionnaire (2016) (0)
- Biophysical Interactions Underpin the Emergence of Information in the Genetic Code (2023) (0)
- Mitochondrial defects in Rett syndrome (2012) (0)
- The need for careful diagnosis of congenital myasthenic syndromes with secondary complex I disorders (2013) (0)
- Mainstreaming proteomics into rare disease diagnostics (2022) (0)
- Table 2. [Major Clinical Findings in PRPS1-Related Disorders by Phenotype]. (2011) (0)
- Needs of people with rare diseases that can be supported by electronic resources: a scoping review (2022) (0)
- Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma (2023) (0)
- The Computational Studies of Co-Translational Protein Folding (2015) (0)
- Table 3. [Selected PRPS1 Allelic Variants]. (2011) (0)
- The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease (2020) (0)
- Dysfunctional MeCP2 causes microtubule defects (2008) (0)
- Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data (2019) (0)
- Structure and dynamics of ribosome‐bound nascent chains: insights from NMR spectroscopy (752.2) (2014) (0)
- Reply: Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement. (2020) (0)
- Acknowledgement to referees 2002 (2003) (0)
- Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy (2022) (0)
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