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
Fanconi Anemia Medicine & Life Sciences
DNA Mismatch Repair Medicine & Life Sciences
Neoplasms Medicine & Life Sciences
Phenylketonurias 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
Immune Evasion
Dependovirus
Capsid
Primates
Blood-Brain Barrier

Research Output 1981 2018

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

Mighell, T. L., Evans-Dutson, S. & O'Roak, B. J. May 3 2018 In : American Journal of Human Genetics. 102, 5, p. 943-955 13 p.

Research output: Contribution to journalArticle

Phosphoric Monoester Hydrolases
Mutagenesis
Genotype
Phenotype
Lipids

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

Members Of The Urea Cycle Disorders Consortium Feb 8 2018 (Accepted/In press) In : Journal of Inherited Metabolic Disease. p. 1-11 11 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Hyperargininemia
Biomarkers
Citrullinemia
Ammonia
1 Citations

Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice

Winn, S. R., Scherer, T., Thöny, B., Ying, M., Martinez, A., Weber, S., Raber, J. & Harding, C. O. Jan 1 2018 In : Molecular Genetics and Metabolism. 123, 1, p. 6-20 15 p.

Research output: Contribution to journalArticle

Prefabricated roofs
Phenylalanine
Dopamine
Serotonin
Central Nervous System