What is he best known for?
The fields of study he is best known for:
Genetics, Rett syndrome, MECP2, Internal medicine and Pediatrics are his primary areas of study.
His Rett syndrome study combines topics from a wide range of disciplines, such as Regulation of gene expression, Neuroscience, Motor coordination, METHYL-CpG-BINDING PROTEIN 2 and Severity of illness.
John Christodoulou has included themes like Neurodevelopmental disorder, Epidemiology, X chromosome and Age of onset in his MECP2 study.
John Christodoulou interconnects Gastroenterology and Endocrinology in the investigation of issues within Internal medicine.
The concepts of his Pediatrics study are interwoven with issues in Encephalopathy, Central nervous system disease, Degenerative disease, Cohort study and Epilepsy.
His Mutation study combines topics in areas such as Molecular biology, Respiratory chain, Mitochondrion, Mitochondrial respiratory chain and Cytochrome.
His most cited work include:
- Rett syndrome: Revised diagnostic criteria and nomenclature (779 citations)
- Leigh syndrome: Clinical features and biochemical and DNA abnormalities (570 citations)
- Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. (442 citations)
What are the main themes of his work throughout his whole career to date?
His primary areas of investigation include Genetics, Rett syndrome, Internal medicine, Endocrinology and MECP2.
He studied Genetics and Molecular biology that intersect with Mitochondrion.
John Christodoulou has researched Rett syndrome in several fields, including Central nervous system disease, Neurodevelopmental disorder, CDKL5, Genotype and Pediatrics.
His Pediatrics research integrates issues from Surgery, Cohort study and Epilepsy.
His research on Internal medicine often connects related topics like Gastroenterology.
His study connects X chromosome and MECP2.
He most often published in these fields:
- Genetics (48.25%)
- Rett syndrome (31.88%)
- Internal medicine (28.17%)
What were the highlights of his more recent work (between 2017-2021)?
- Genetics (48.25%)
- Phenotype (15.72%)
- Exome sequencing (11.79%)
In recent papers he was focusing on the following fields of study:
John Christodoulou mostly deals with Genetics, Phenotype, Exome sequencing, Mitochondrial disease and Cell biology.
The various areas that John Christodoulou examines in his Phenotype study include Molecular biology, KIF1A and In silico.
His Exome sequencing research is multidisciplinary, relying on both Congenital disorder of glycosylation, Proband, Glycosylation, Intensive care and Medical genetics.
His studies in Mitochondrial disease integrate themes in fields like Genome, Heteroplasmy, Genomics, Exome and DNA sequencing.
His Allele research is multidisciplinary, incorporating elements of Mutation and Disease.
As a member of one scientific family, John Christodoulou mostly works in the field of Neurodevelopmental disorder, focusing on CDKL5 and, on occasion, Rett syndrome.
Between 2017 and 2021, his most popular works were:
- Australian Genomics: A Federated Model for Integrating Genomics into Healthcare. (29 citations)
- Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. (27 citations)
- Disorders of Riboflavin Metabolism (24 citations)
In his most recent research, the most cited papers focused on:
His primary scientific interests are in Genetics, Exome sequencing, Mitochondrial disease, Gene and Genetic testing.
Missense mutation, Human genetics, Protein subunit, Exon and Microcephaly are the primary areas of interest in his Genetics study.
His Missense mutation study integrates concerns from other disciplines, such as MECP2, Allele and Whole genome sequencing.
The subject of his Mitochondrial disease research is within the realm of Mitochondrial DNA.
His Mitochondrial DNA research includes themes of Genetic heterogeneity, Respiratory chain and Cohort.
His study in Phenotype is interdisciplinary in nature, drawing from both Kinesin, Microtubule, KIF1A, Neurite and Rett syndrome.
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