Jill Ann Fahrner

Assistant Professor

20002016
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Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Hypertrophic Cardiomyopathy Medicine & Life Sciences
SOS1 Protein Medicine & Life Sciences
Chromatin Medicine & Life Sciences
DNA Methylation Medicine & Life Sciences
Non-Receptor Type 11 Protein Tyrosine Phosphatase Medicine & Life Sciences
Histone Code Medicine & Life Sciences

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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: Contribution to journalArticle

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: Contribution to journalArticle

Genome
Mutation
Inborn Genetic Diseases
Exome
Human Genome
Epigenomics
Chromatin
Gene Components
Histone Deacetylase Inhibitors
Acetylation
SOS1 Protein
Non-Receptor Type 11 Protein Tyrosine Phosphatase
Hypertrophic Cardiomyopathy
Genetic Testing
Phenotype

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: Contribution to journalArticle

Adenylosuccinate Lyase
Protons
Seizures
Magnetic Resonance Spectroscopy
Inborn Errors Metabolism