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J. Christodoulou · SciRah

Researcher profile · Semantic Scholar

J. Christodoulou

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J. Christodoulou — researcher profile on SciRah

h-index: 82
Works: 534
Citations: 24K

Most-cited papers

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
S. Lunke, S. Eggers, M. Wilson, C. Patel +62 more
2020Journal of the American Medical Association (JAMA)213 citations Open access
Semantic Scholar
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
M. Levy, H. McConkey, J. Kerkhof, M. Barat-Houari +83 more
2021HGG advances152 citations Open access
Semantic Scholar
Integrated multi-omics for rapid rare disease diagnosis on a national scale
S. Lunke, Sophie E. Bouffler, C. Patel, S. Sandaradura +40 more
2023Nature Medicine139 citations Open access
Semantic Scholar
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Zornitza Stark, Tiffany F. Boughtwood, Matilda A. Haas, J. Braithwaite +54 more
2023American Journal of Human Genetics64 citations Open access
Semantic Scholar
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
M. Levy, R. Relator, H. McConkey, Erinija Pranckevičienė +88 more
2022Human Mutation60 citations Open access
Semantic Scholar
Spontaneous assembly of redox-active iron-sulfur clusters at low concentrations of cysteine
S. Jordan, I. Ioannou, Hanadi Rammu, Aaron Halpern +6 more
2021Nature Communications60 citations Open access
Semantic Scholar
Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum
E. McCormick, Kierstin N. Keller, Julie Taylor, A. Coffey +43 more
2023Annals of Neurology59 citations Open access
Semantic Scholar
A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection
E. Andreakos, L. Abel, D. Vinh, E. Kaja +49 more
2021Nature Immunology57 citations Open access
Semantic Scholar
The ribosome stabilises partially folded intermediates of a nascent multi-domain protein
Sammy H. S. Chan, Tomasz Włodarski, Julian O. Streit, A. Cassaignau +7 more
2022Nature Chemistry49 citations Open access
Semantic Scholar
The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments
I. Goranitis, S. Best, J. Christodoulou, Zornitza Stark +1 more
2020Genetics in Medicine49 citations Open access
Semantic Scholar
CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development
N. V. Van Bergen, Sean Massey, A. Quigley, Ben Rollo +3 more
2022Biochemical Society Transactions46 citations Open access
Semantic Scholar
Needs of people with rare diseases that can be supported by electronic resources: a scoping review
Janet C. Long, S. Best, Bróna Nic Giolla Easpaig, Sarah Hatem +3 more
2022BMJ Open43 citations Open access
Semantic Scholar
Interactions between nascent proteins and the ribosome surface inhibit co-translational folding
A. Cassaignau, Tomasz Włodarski, Sammy H. S. Chan, Lauren F. Woodburn +5 more
2021Nature Chemistry43 citations Open access
Semantic Scholar
Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β
D. Vinh, L. Abel, P. Bastard, M. Cheng +30 more
2021Journal of Clinical Immunology42 citations Open access
Semantic Scholar
Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis
R. Davis, K. Kumar, C. Puttick, Christina Liang +11 more
2022Neurology40 citations Open access
Semantic Scholar
An intrinsic temporal order of c-JUN N-terminal phosphorylation regulates its activity by orchestrating co-factor recruitment
C. Waudby, Saúl Álvarez-Teijeiro, E. Ruiz, S. Suppinger +5 more
2021bioRxiv40 citations Open access
Semantic Scholar
Nascent chains can form co-translational folding intermediates that promote post-translational folding outcomes in a disease-causing protein
E. Plessa, Lien P. Chu, Sammy H. S. Chan, Oliver L Thomas +4 more
2021Nature Communications39 citations Open access
Semantic Scholar
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Sarah E. M. Stephenson, G. Costain, Laura E R Blok, Michael Silk +100 more
2022American Journal of Human Genetics38 citations Open access
Semantic Scholar
Modulating co-translational protein folding by rational design and ribosome engineering
Minkoo Ahn, Tomasz Włodarski, A. Mitropoulou, Sammy H. S. Chan +9 more
2022Nature Communications37 citations Open access
Semantic Scholar
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
S. Wortmann, S. Ziętkiewicz, Sergio Guerrero‐Castillo, R. Feichtinger +22 more
2021Genetics in Medicine36 citations Open access
Semantic Scholar
Australian children living with rare diseases: health service use and barriers to accessing care
S. Teutsch, Y. Zurynski, G. Eslick, M. Deverell +5 more
2023World Journal of Pediatrics35 citations Open access
Semantic Scholar
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Jacob R. Stolz, Kendall M. Foote, H. Veenstra-Knol, R. Pfundt +35 more
2021American Journal of Human Genetics34 citations Open access
Semantic Scholar
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Emma Tudini, James Andrews, D. Lawrence, Sarah L. King-Smith +65 more
2022American Journal of Human Genetics30 citations Open access
Semantic Scholar
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
L. Van Haute, E. O'Connor, Héctor Díaz-Maldonado, B. Munro +37 more
2023Nature Communications29 citations Open access
Semantic Scholar
Multidisciplinary Management of Rett Syndrome: Twenty Years’ Experience
Sandra Vilvarajan, M. McDonald, Lyndal Douglas, Jessica Newham +6 more
2023Genes29 citations Open access
Semantic Scholar
The collective burden of childhood dementia: a scoping review
Kristina L. Elvidge, J. Christodoulou, M. Farrar, D. Tilden +12 more
2023Brain : a journal of neurology29 citations Open access
Semantic Scholar
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes
H. Alsharhan, Miao He, A. Edmondson, E. Daniel +22 more
2021Journal of Inherited Metabolic Disease29 citations Open access
Semantic Scholar
Micro-costing diagnostic genomic sequencing: a systematic review.
Francisco Santos Gonzalez, D. Mordaunt, Zornitza Stark, K. Dalziel +2 more
2023Genetics in Medicine27 citations Open access
Semantic Scholar
Common sequence motifs of nascent chains engage the ribosome surface and trigger factor
Annika Deckert, A. Cassaignau, Xiaolin Wang, Tomasz Włodarski +6 more
2021Proceedings of the National Academy of Sciences of the United States of America27 citations Open access
Semantic Scholar
Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment
I. Goranitis, S. Best, J. Christodoulou, Tiffany F. Boughtwood +1 more
2021European Journal of Human Genetics26 citations Open access
Semantic Scholar
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
Xiao-Min Dong, N. B. Tan, K. Howell, S. Barresi +13 more
2020American Journal of Human Genetics26 citations Open access
Semantic Scholar
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Elodie M. Richard, S. Bakhtiari, Ashley P. L. Marsh, R. Kaiyrzhanov +101 more
2021American Journal of Human Genetics24 citations Open access
Semantic Scholar
Morphology-Dependent Interactions between α-Synuclein Monomers and Fibrils
Tinna Pálmadóttir, C. Waudby, K. Bernfur, J. Christodoulou +2 more
2023International Journal of Molecular Sciences22 citations Open access
Semantic Scholar
Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?
D. Vears, Julian Savulescu, J. Christodoulou, M. Wall +1 more
2023Pharmacogenomics and Personalized Medicine21 citations Open access
Semantic Scholar
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss
A. Neyroud, J. Rudinger-Thirion, M. Frugier, L. Riley +10 more
2022European Journal of Human Genetics21 citations Open access
Semantic Scholar
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
G. Vogel, Y. Mozer-Glassberg, Y. Landau, L. Schlieben +57 more
2022Genetics in Medicine20 citations Open access
Semantic Scholar
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency
N. V. Van Bergen, Adhish S. Walvekar, Myrto Patraskaki, Tim Sikora +2 more
2022Journal of Inherited Metabolic Disease20 citations Open access
Semantic Scholar
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Sophie Sleiman, Aren E. Marshall, Xin Dong, A. Mhanni +12 more
2021Human Molecular Genetics19 citations
Semantic Scholar
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
S. Amarasekera, D. Hock, N. Lake, S. Calvo +15 more
2023Human Molecular Genetics18 citations Open access
Semantic Scholar
Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation
You Wu, S. Balasubramaniam, R. Rius, D. Thorburn +2 more
2021European Journal of Human Genetics18 citations Open access
Semantic Scholar
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder
D. Natera-de Benito, J. Jurgens, A. Yeung, I. Zaharieva +20 more
2022Human Mutation17 citations Open access
Semantic Scholar
Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder.
N. V. Van Bergen, Sean Massey, T. Stait, Molly Ellery +7 more
2021Neurobiology of Disease17 citations Open access
Semantic Scholar
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)
Nina Lenherr, J. Christodoulou, J. Duley, D. Dobritzsch +10 more
2021Molecular Genetics and Metabolism Reports17 citations Open access
Semantic Scholar
Lessons learned from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program
T. Cloney, L. Gallacher, L. Pais, N. B. Tan +24 more
2021Journal of Medical Genetics16 citations Open access
Semantic Scholar
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations
C. Sue, S. Balasubramaniam, D. Bratkovic, Catherine M Bonifant +18 more
2021Internal medicine journal (Print)16 citations Open access
Semantic Scholar
Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency
Brianna L Kline, S. Jaillard, K. Bell, Shabnam Bakhshalizadeh +9 more
2022Genes15 citations Open access
Semantic Scholar
The role of exome sequencing in childhood interstitial or diffuse lung disease
S. E. Temple, G. Ho, B. Bennetts, K. Boggs +16 more
2022Orphanet Journal of Rare Diseases14 citations Open access
Semantic Scholar
Nascent chain dynamics and ribosome interactions within folded ribosome–nascent chain complexes observed by NMR spectroscopy
Charles Burridge, C. Waudby, Tomasz Włodarski, A. Cassaignau +2 more
2021Chemical Science14 citations Open access
Semantic Scholar
The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis
Janet C. Long, S. Best, Sarah Hatem, Tahlia Theodorou +4 more
2021Orphanet Journal of Rare Diseases14 citations Open access
Semantic Scholar
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
S. White, E. Bhoj, C. Nellåker, A. Lachmeijer +22 more
2021American Journal of Human Genetics14 citations Open access
Semantic Scholar

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