• 2162 Citations
  • 26 h-Index
1990 …2020
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Fingerprint Fingerprint is based on mining the text of the experts' scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 3 Similar Profiles
Mitochondrial Diseases Medicine & Life Sciences
Mutation Medicine & Life Sciences
Caenorhabditis elegans Medicine & Life Sciences
Mitochondrial DNA Medicine & Life Sciences
Electron Transport Medicine & Life Sciences
Genes Chemical Compounds
Mitochondrial Genome Medicine & Life Sciences
Inborn Genetic Diseases Medicine & Life Sciences

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Projects 1990 2020

Electron Transport
Therapeutics
Zebrafish
NAD
Myocardium
Mitochondrial Diseases
Electron Transport
Glycosylation
Glycoproteins
Mass Spectrometry
Electron Transport
Peroxisome Proliferator-Activated Receptors
Metabolic Networks and Pathways
Mitochondrial Diseases
Fluorescence Microscopy
Mitochondrial Diseases
Electron Transport
Metabolic Networks and Pathways
Systems Biology
Biomarkers

Research Output 2003 2018

4 Citations
Mitochondrial Diseases
Pediatrics
Arginine
Stroke
Therapeutics

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))

Lake, N. J., Webb, B. D., Stroud, D. A., Richman, T. R., Ruzzenente, B., Compton, A. G., Mountford, H. S., Pulman, J., Zangarelli, C., Rio, M., Boddaert, N., Assouline, Z., Sherpa, M. D., Schadt, E. E., Houten, S. M., Byrnes, J., McCormick, E. M., Zolkipli-Cunningham, Z., Haude, K., Zhang, Z. & 11 othersRetterer, K., Bai, R., Calvo, S. E., Mootha, V. K., Christodoulou, J., Rötig, A., Filipovska, A., Cristian, I., Falk, M., Metodiev, M. D. & Thorburn, D. R., Apr 5 2018, In : American journal of human genetics. 102, 4, 1 p.

Research output: Contribution to journalComment/debate

Leigh Disease
Medical Genetics
Mutation

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

The DDD Study, Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Genetic Association Studies
Social Media
Language Development Disorders
Microcephaly
Penetrance
1 Citations
Arginine
Stroke

Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease

McCormick, E. M., Zolkipli-Cunningham, Z. & Falk, M., Dec 1 2018, In : Current opinion in pediatrics. 30, 6, p. 714-724 11 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Phenotype
Mitochondrial Genes
Mitochondrial Dynamics
Exome