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
Proteins Medicine & Life Sciences
Phenylketonurias Medicine & Life Sciences

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


No photo of Andrew Adey

Andrew Adey

Person: Academic

No photo of Mushui Dai

Mushui Dai

Person: Academic

No photo of Amy Farrell

Amy Farrell

Person: Academic


Projects 1976 2021

Insulin Resistance
Fatty Acids
Type 2 Diabetes Mellitus

In vivo targeting of diabetes-relevant human cell types with rAAV vectors

Grompe, M., Nakai, H. & Kay, M.

National Institutes of Health


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

Somatostatin-Secreting Cells
Immune Evasion
Blood-Brain Barrier

Research Output 1981 2018

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

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Koczkowska, M. , Chen, Y. , Callens, T. , Gomes, A. , Sharp, A. , Johnson, S. , Hsiao, M. C. , Chen, Z. , Balasubramanian, M. , Barnett, C. P. , Becker, T. A. , Ben-Shachar, S. , Bertola, D. R. , Blakeley, J. O. , Burkitt-Wright, E. M. M. , Callaway, A. , Crenshaw, M. , Cunha, K. S. , Cunningham, M. , D'Agostino, M. D. & 55 others Dahan, K., De Luca, A., Destrée, A., Dhamija, R., Eoli, M., Evans, D. G. R., Galvin-Parton, P., George-Abraham, J. K., Gripp, K. W., Guevara-Campos, J., Hanchard, N. A., Hernández-Chico, C., Immken, L. D., Janssens, S., Jones, K. J., Keena, B. A., Kochhar, A., Liebelt, J., Martir-Negron, A., Mahoney, M. J., Maystadt, I., McDougall, C., McEntagart, M., Mendelsohn, N., Miller, D. T., Mortier, G., Morton, J., Pappas, J., Plotkin, S. R., Pond, D., Rosenbaum, K., Rubin, K., Russell, L., Rutledge, L. S., Saletti, V., Schonberg, R., Schreiber, A., Seidel, M., Siqveland, E., Stockton, D. W., Trevisson, E., Ullrich, N. J., Upadhyaya, M., van Minkelen, R., Verhelst, H., Wallace, M. R., Yap, Y. S., Zackai, E., Zonana, J., Zurcher, V., Claes, K., Martin, Y., Korf, B. R., Legius, E. & Messiaen, L. M. Jan 4 2018 In : American Journal of Human Genetics. 102, 1, p. 69-87 19 p.

Research output: Contribution to journalArticle

Plexiform Neurofibroma
Neurofibromatosis 1
Genetic Association Studies
Missense Mutation