Projects per year
Organization profile
Organization profile
The Molecular and Medical Genetics (MMG) Department is an interdisciplinary group of faculty performing basic laboratory research, clinical research, teaching of both graduate and medical students, overseeing the operation of several clinical labs and providing expertise in the area of clinical genetics care.
Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit
Mutation
Medicine & Life Sciences
Pantothenate Kinase-Associated Neurodegeneration
Medicine & Life Sciences
Genes
Medicine & Life Sciences
Neoplasms
Medicine & Life Sciences
Fanconi Anemia
Medicine & Life Sciences
DNA Mismatch Repair
Medicine & Life Sciences
Genome
Medicine & Life Sciences
Proteins
Medicine & Life Sciences
Network
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Profiles
Projects 1976 2021
Role of Fatty Acid Oxidation Defects in Insulin Sensitivity
4/27/15 → 3/31/19
Project: Research project › Research Project
Insulin Resistance
Fatty Acids
Metabolomics
Type 2 Diabetes Mellitus
Oxidoreductases
In vivo targeting of diabetes-relevant human cell types with rAAV vectors
Grompe, M., Nakai, H. & Kay, M.
9/30/14 → 6/30/19
Project: Research project › High Impact Research and Research Infrastructure Cooperative Agreement Programs—Multi-Yr Funding
Dependovirus
Capsid
MicroRNAs
Epithelium
Somatostatin-Secreting Cells
Novel therapy for monoamine neurotransmitter deficiency in PKU
9/30/12 → 5/31/21
Project: Research project › Research Project
Phenylketonurias
Neurotransmitter Agents
Serotonin
Brain
Dopamine
Research Output 1981 2018
A case for expanding carrier testing to include actionable X-linked disorders
Rope, A. F., Kauffman, T. L., Himes, P., Amendola, L. M., Punj, S., Akkari, Y., Potter, A., Davis, J. V., Schneider, J. L., Reiss, J. A., Gilmore, M. J., McMullen, C. K., Nickerson, D. A., Richards, C. S., Jarvik, G. P., Wilfond, B. S. & Goddard, K. A. B., Jan 1 2018, (Accepted/In press) In : Clinical Case Reports.Research output: Contribution to journal › Article
Genome
Factor VIII
Nuclear Family
Sequence Analysis
Newborn Infant
8
Citations
A Comprehensive Pan-Cancer Molecular Study of Gynecologic and Breast Cancers
The Cancer Genome Atlas Research Network, Apr 9 2018, In : Cancer Cell. 33, 4, p. 690-705.e9Research output: Contribution to journal › Article
Breast Neoplasms
Atlases
Long Noncoding RNA
Decision Trees
Genome
Altered zinc balance in the Atp7b−/− mouse reveals a mechanism of copper toxicity in Wilson disease
Meacham, K. A., Cortés, M. P., Wiggins, E. M., Maass, A., Latorre, M., Ralle, M. & Burkhead, J. L., Nov 1 2018, In : Metallomics. 10, 11, p. 1595-1606 12 p.Research output: Contribution to journal › Article
Neurodegenerative diseases
Hepatolenticular Degeneration
Molecular biology
Mammals
Transcription