Christodoulou, John

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Bastard, P., Rosen, L. B., Zhang, Q., Michailidis, E., Hoffmann, H.-H., Zhang, Y., Dorgham, K., Philippot, Q., Rosain, J., Béziat, V., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,662

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Zhang, Q., Bastard, P., Liu, Z., Le Pen, J., Moncada-Velez, M., Chen, J., Ogishi, M., Sabli, I. K. D., Hodeib, S., Korol, C., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,229

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

Australian Genomics Health Alliance Acute Care Flagship, Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., et al. (2020) · JAMA

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 239

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

Kondo, M., Gray, L. J., Pelka, G. J., Christodoulou, J., Tam, P. P. L., & Hannan, A. J. (2008) · European Journal of Neuroscience

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 190

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

Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat‐Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., et al. (2022) · Human Mutation

Epigenetics and DNA MethylationGenetics and Neurodevelopmental Disorders

Cited by 76

Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): implications for the disease phenotype

Gold, W. A., Williamson, S. L., Kaur, S., Hargreaves, I. P., Land, J. M., Pelka, G. J., Tam, P. P. L., & Christodoulou, J. (2014) · Mitochondrion

Genetics and Neurodevelopmental DisordersMitochondrial Function and Pathology

Cited by 73

Quantifying constraint in the human mitochondrial genome

Lake, N. J., Liu, W., Battle, S. L., Laricchia, K. M., Tiao, G., Puiu, D., Compton, A. G., Cowie, S., Christodoulou, J., Thorburn, D. R., et al. (2022) · Nature

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 63

Quantifying constraint in the human mitochondrial genome

Lake, N. J., Ma, K., Liu, W., Battle, S. L., Laricchia, K. M., Tiao, G., Puiu, D., Ng, K. K., Cohen, J., Compton, A. G., et al. (2024) · Nature

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 63

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

Coman, D., Vissers, L. E. L. M., Riley, L. G., Kwint, M. P., Hauck, R., Koster, J., Geuer, S., Hopkins, S., Hallinan, B., Sweetman, L., et al. (2018) · The American Journal of Human Genetics

Cholesterol and Lipid MetabolismMetabolism and Genetic Disorders

Cited by 42

Trimethylaminuria: An under‐recognised and socially debilitating metabolic disorder

Christodoulou, J. (2012) · Journal of Paediatrics and Child Health

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 32

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

Akesson, L. S., Eggers, S., Love, C. J., Chong, B., Krzesinski, E. I., Brown, N. J., Tan, T. Y., Richmond, C. M., Thorburn, D. R., Christodoulou, J., et al. (2019) · European Journal of Human Genetics

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 28