Dr. med. Miriam Reuter


Humangenetisches Institut

Publikationen (Download BibTeX)

Reuter, M., Tawamie, H., Buchert, R., Gebril, O.H., Froukh, T., Thiel, C.T.,... Abou Jamra, R. (2017). Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. JAMA Psychiatry, 74(3), 293-299. https://dx.doi.org/10.1001/jamapsychiatry.2016.3798
Reuter, M., Riess, A., Moog, U., Briggs, T.A., Chandler, K.E., Rauch, A.,... Zweier, C. (2017). FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. Journal of Medical Genetics, 54(1), 64-72. https://dx.doi.org/10.1136/jmedgenet-2016-104094
Kraus, C., Hoyer, J., Vasileiou, G., Wunderle, M., Lux, M.P., Fasching, P.,... Reis, A. (2017). Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. International Journal of Cancer, 140(1), 95-102. https://dx.doi.org/10.1002/ijc.30428
Reuter, M., Krumbiegel, M., Schlueter, G., Ekici, A.B., Reis, A., & Zweier, C. (2017). Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment. American Journal of Medical Genetics Part A, 173(8), 2231-2234. https://dx.doi.org/10.1002/ajmg.a.38288
Breuss, M.W., Sultan, T., James, K.N., Rosti, R.O., Scott, E., Musaev, D.,... Gleeson, J.G. (2016). Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. American Journal of Human Genetics, 99(1), 228-35. https://dx.doi.org/10.1016/j.ajhg.2016.05.023
Meyer, E., Carss, K.J., Rankin, J., Nichols, J.M.E., Grozeva, D., Joseph, A.P.,... Kurian, M.A. (2016). Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics. https://dx.doi.org/10.1038/ng.3740
Kuechler, A., Willemsen, M.H., Albrecht, B., Bacino, C.A., Bartholomew, D.W., Van Bokhoven, H.,... Wieczorek, D. (2015). De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Human genetics, 134(1), 97-109. https://dx.doi.org/10.1007/s00439-014-1498-1
Schaffer, A.E., Eggens, V.R.C., Caglayan, A.O., Reuter, M., Scott, E., Coufal, N.G.,... Gleeson, J.G. (2014). CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell, 157(3), 651-63. https://dx.doi.org/10.1016/j.cell.2014.03.049
Basel-Vanagaite, L., Yilmaz, R., Tang, S., Reuter, M., Rahner, N., Grange, D.K.,... Borck, G. (2014). Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Human genetics, 133(7), 939-49. https://dx.doi.org/10.1007/s00439-014-1436-2
Reuter, M., Sass, J.O., Leis, T., Koehler, J., Mayr, J.A., Feichtinger, R.G.,... Reis, A. (2014). HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. American Journal of Medical Genetics Part A, 164(12), 3162-9. https://dx.doi.org/10.1002/ajmg.a.36766

Zuletzt aktualisiert 2017-11-01 um 01:01