Zentrum für Humangenetik und Laboratoriumsmedizin, Dr. Klein, Dr. Rost und Kollegen

Beicht S, Strobl-Wildemann G, Rath S, Wachter O, Alberer M, Kaminsky E, Weber LT, Hinrichsen T, Klein HG, Hoefele J.
Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.
Gene 526(2):474 (2013)
http://www.ncbi.nlm.nih.gov/pubmed/23732293

 

Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA, Natarajan S, Wiggins RC, Lovric S, Chernin G, Schoeb DS, Ovunc B, Frishberg Y, Soliman NA, Fathy HM, Goebel H, Hoefele J, Weber LT, Innis JW, Faul C, Han Z, Washburn J, Antignac C, Levy S, Otto EA, Hildebrandt F.
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
J Clin Invest. 123 (8):3243 (2013)
http://www.jci.org/articles/view/69134

 

Grumbt B, Eck S, Hinrichsen T, Hirv K.
Diagnostic Applications of Next Generation Sequencing in Immunogenetics and Molekular Oncology.
Transfus Med Hemother 40:196 (2013)

http://www.karger.com/Article/Abstract/351267

 

Hoefele J, Wilhelm C, Schiesser M, Mack R, Heinrich U, Weber LT, Biskup S, Daumer-Haas C, Klein HG, Rost I.
Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1.
Gene 520(2):194 (2013)
http://www.ncbi.nlm.nih.gov/pubmed/23473829

 

Mayer K, Kennerknecht I, Steinmann B.
Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012.
Eur J Hum Genet. 21(1):1038 (2013)
http://www.ncbi.nlm.nih.gov/pubmed/22892533

 

Reuter MS, Schwabe GC, Ehlers C, Marschall C, Reis A, Thiel C, Graul-Neumann L.
Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.
Eur J Med Genet. 56:1769 (2013)
http://www.sciencedirect.com/science/article/pii/S1769721213002279

Vogl I,Benet-Pages A, Eck S, Kuhn M, Vosberg S, Greif Ph, Metzeler H, Biskup S, Müller-Reible C, Klein HG
Applications and data analysis of next generation sequencing
J Lab Med 37(6):305
(2013)
http://www.degruyter.com/view/j/labm.2013.37.issue-6/labmed-2013-0016/labmed-2013-0016.xml?rskey=EXPFcu&result=1

Rücker O, Dangel A, Klein HG
Developments and insights into the analysis of the human microbiome
J Lab Med 37(6):305 (2013)
http://www.degruyter.com/view/j/labm.2013.37.issue-6/labmed-2013-0018/labmed-2013-0018.xml?rskey=MNfzgf&result=4