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

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Profiles

No photo of Andrew Adey

Andrew Adey

Person: Academic

20102018
No photo of Mushui Dai

Mushui Dai

Person: Academic

19982020
No photo of Amy Farrell

Amy Farrell

Person: Academic

20092017

Projects 1976 2021

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.

National Institutes of Health

9/30/146/30/19

Project: Research projectHigh Impact Research and Research Infrastructure Cooperative Agreement Programs—Multi-Yr Funding

Dependovirus
Capsid
MicroRNAs
Epithelium
Somatostatin-Secreting Cells
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 journalArticle

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.e9

Research output: Contribution to journalArticle

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 journalArticle

Neurodegenerative diseases
Hepatolenticular Degeneration
Molecular biology
Mammals
Transcription