Jill Ann Fahrner

Assistant Professor

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Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
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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
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

Inborn Genetic Diseases
Human Genome
Gene Components
Histone Deacetylase Inhibitors
SOS1 Protein
Non-Receptor Type 11 Protein Tyrosine Phosphatase
Hypertrophic Cardiomyopathy
Genetic Testing

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
Magnetic Resonance Spectroscopy
Inborn Errors Metabolism