Baumgartner, Matthias R.

Exome Sequencing and the Management of Neurometabolic Disorders

Tarailo-Graovac, M., Shyr, C., Ross, C. J., Horvath, G. A., Salvarinova, R., Ye, X. C., Zhang, L.-H., Bhavsar, A. P., Lee, J. J. Y., Drögemöller, B. I., et al. (2016) · New England Journal of Medicine

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 281

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Rohrbach, M., Vandersteen, A., Yiş, U., Serdaroglu, G., Ataman, E., Chopra, M., Garcia, S., Jones, K., Kariminejad, A., Kraenzlin, M., et al. (2011) · Orphanet Journal of Rare Diseases

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 106

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Guéant, J.-L., Chéry, C., Oussalah, A., Nadaf, J., Coelho, D., Josse, T., Flayac, J., Robert, A., Koscinski, I., Gastin, I., et al. (2018) · Nature Communications

Epigenetics and DNA MethylationMetabolism and Genetic Disorders

Cited by 93

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Rohrbach, M., Spencer, H. L., Porter, L. F., Burkitt-Wright, E. M. M., Bürer, C., Janecke, A., Bakshi, M., Sillence, D., Al-Hussain, H., Baumgartner, M., et al. (2013) · Molecular Genetics and Metabolism

Connective tissue disorders researchCorneal surgery and disorders

Cited by 83

Defect in proline synthesis: pyrroline‐5‐carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

Kretz, R., Bozorgmehr, B., Kariminejad, M. H., Rohrbach, M., Hausser, I., Baumer, A., Baumgartner, M., Giunta, C., Kariminejad, A., & Häberle, J. (2011) · Journal of Inherited Metabolic Disease

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 34

Alternative nighttime nutrition regimens in glycogen storage disease type i: A controlled crossover study

Hochuli, M., Christ, E., Meienberg, F., Lehmann, R., Krützfeldt, J., & Baumgartner, M. R. (2015) · Journal of Inherited Metabolic Disease

Glycogen Storage Diseases and MyoclonusDiabetes Management and Research

Cited by 15