Jill Ann Fahrner

Assistant Professor

20002019
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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

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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
Epigenomics
Phenotype
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
Liver
Failure to Thrive
Anemia

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
Megalencephaly
Chin
Forehead
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
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