Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 9 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
DNA Medicine & Life Sciences
Chromatin Medicine & Life Sciences
DNA Methylation Medicine & Life Sciences
Neoplasms Medicine & Life Sciences
Tumor Suppressor Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2000 2016

A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy

Fahrner, J. A., Liu, R., Perry, M. S., Klein, J. & Chan, D. C. Aug 1 2016 In : American Journal of Medical Genetics, Part A. 170, 8, p. 2002-2011 10 p.

Research output: Research - peer-reviewArticle

Mitochondrial Dynamics
Brain Diseases
Mutation
Missense Mutation
Personnel Selection

DIAMUND: Direct comparison of genomes to detect mutations

Salzberg, S. L., Pertea, M., Fahrner, J. A. & Sobreira, N. 2014 In : Human Mutation. 35, 3, p. 283-288 6 p.

Research output: Research - peer-reviewArticle

Genome
Mutation
Inborn Genetic Diseases
Exome
Human Genome
Epigenomics
Chromatin
Genes
Gene Components
Histone Deacetylase Inhibitors

Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency

Zulfiqar, M., Lin, D. D. M., Van Der Graaf, M., Barker, P. B., Fahrner, J. A., Marie, S., Morava, E., De Boer, L., Willemsen, M. A. A. P., Vining, E., Horská, A., Engelke, U., Wevers, R. A. & Maegawa, G. H. B. Apr 2013 In : Journal of Magnetic Resonance Imaging. 37, 4, p. 974-980 7 p.

Research output: Research - peer-reviewArticle

Protons
Seizures
Magnetic Resonance Spectroscopy
succinylaminoimidazole carboxamide riboside
Adenylosuccinate lyase deficiency