Jill Ann Fahrner

Assistant Professor

If you made any changes in Pure, your changes will be visible here soon.

Fingerprint Dive into the research topics where Jill Ann Fahrner is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Hypertrophic Cardiomyopathy Medicine & Life Sciences
Leucine-tRNA Ligase Medicine & Life Sciences
SOS1 Protein Medicine & Life Sciences
Sotos Syndrome Medicine & Life Sciences
Epigenomics Medicine & Life Sciences

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

Research Output 2000 2019

Disrupted epigenetics in the Sotos syndrome neurobehavioral phenotype

Harris, J. R. & Fahrner, J. A., Mar 1 2019, In : Current Opinion in Psychiatry. 32, 2, p. 55-59 5 p.

Research output: Contribution to journalArticle

Sotos Syndrome
Intellectual Disability
Inborn Genetic Diseases

Severe neonatal manifestations of infantile liver failure syndrome type 1 caused by cytosolic leucine-tRNA synthetase deficiency

Peroutka, C., Salas, J., Britton, J., Bishop, J., Kratz, L., Gilmore, M., Fahrner, J. A., Golden, W. C. & Wang, T., Jan 1 2019, JIMD Reports. Springer, p. 71-76 6 p. (JIMD Reports; vol. 45).

Research output: Chapter in Book/Report/Conference proceedingChapter

Leucine-tRNA Ligase
Liver Failure
Failure to Thrive

Further delineation of Malan syndrome

Priolo, M., Schanze, D., Tatton-Brown, K., Mulder, P. A., Tenorio, J., Kooblall, K., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G. & 34 others, Huber, I., Iascone, M., Kaiser, A. S., Kamath, A., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., Menke, L. A., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zollino, M., Lapunzina, P., Thakker, R. V., Zenker, M. & Hennekam, R. C., Sep 1 2018, In : Human Mutation. 39, 9, p. 1226-1237 12 p.

Research output: Contribution to journalArticle

Sotos Syndrome
Terminator Codon

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