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

Biskup S, Klein HG.
NGS-basierte Diagnostik.
LABORWELT 1:24 (2012)
http://www.laborwelt.de/spezialthemen/dna-enrichment/ngs-basierte-diagnostik.html

Donner BC, Marshall C, Schmidt KG.
A presumably benign human ether-a-go-go-related gene mutation (R176W) with a malignant primary manifestation of long QT syndrome.
Cardiol Young. 22(3):360 (2012)
http://www.ncbi.nlm.nih.gov/pubmed/22067087

Duebgen S, Kauke T, Marschall C, Giebl A, Lison S, Hart C, Dick A, Spannagl M.
Genotype and laboratory and clinical phenotypes of protein s deficiency.
Am J Clin Pathol. 137(2):178 (2012)
http://www.ncbi.nlm.nih.gov/pubmed/22261441

Faivre L, Collod-Beroud G, Adès L, Arbustini E, Child A, Callewaert BL, Loeys B, Binquet C, Gautier E, Mayer K, Arslan-Kirchner M, Grasso M, Beroud C, Hamroun D, Bonithon-Kopp C, Plauchu H, Robinson PN, De Backer J, Coucke P, Francke U, Bouchot O, Wolf JE, Stheneur C, Hanna N, Detaint D, De Paepe A, Boileau C, Jondeau G.
The new Ghent criteria for Marfan syndrome: what do they change?
Clin Genet. 81(5):433 (2012)
http://www.ncbi.nlm.nih.gov/pubmed/21564093

Heinrich U, Gabert M, Rost I.
Molecular karyotyping in routine diagnostics – a view back and forth.
J Lab Med 36(5):277 (2012)
http://www.degruyter.com/view/j/labm.2012.36.issue-5/labmed-2012-0030/labmed-2012-0030.xml

Hoefele J, Gabert M, Heinrich U, Benz K, Rompel O, Rost I, Klein HG, Kunstmann E.
A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.
Eur J Med Genet. 55(3):211 (2012)
http://www.ncbi.nlm.nih.gov/pubmed/22361651

Hoogeveen-Westerveld M, Ekong R, Povey S, Karbassi I, Batish SD, den Dunnen JT, van Eeghen A, Thiele E, Mayer K, Dies K, Wen L, Thompson C, Sparagana SP, Davies P, Aalfs C, van den Ouweland A, Halley D, Nellist M.
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
Hum Mutat 33(3): 476(2012)
http://www.ncbi.nlm.nih.gov/pubmed/22161988

Langenbach J, Chen C, Pillekamp F, Mayer K, Schmidt KG, Donner BC.
Neugeborenes mit Arachnodaktylie, Arthrogryposis und Aortendilatation.
Kinderheilkunde 160(6):531 (2012)
http://link.springer.com/article/10.1007%2Fs00112-012-2655-z#page-1

Mayer K.
Molecular Genetics of Ehlers–Danlos Syndrome.
John Wiley & Sons Ltd: Chichester (2012)
http://onlinelibrary.wiley.com/doi/10.1002/9780470015902.a0024295/abstract

Staehler M, Sauter M, Helck A, Linsenmaier U, Weber L, Mayer K, Fischereder M.
Nephron-sparing resection of angiomyolipoma after sirolimus pretreatment in patients with tuberous sclerosis.
Int Urol Nephrol. 44(6):1657 (2012)
http://www.ncbi.nlm.nih.gov/pubmed/23054313

Strasser K, Hoefele J, Bergmann C, Büscher AK, Büscher R, Hoyer PF, Weber S.
COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9.
Nephrol Dial Transplant 27(11):4236 (2012)
http://www.ncbi.nlm.nih.gov/pubmed/23144074

Vogl I, Eck S, Benet-Pagès A, Greif P,  Hirv K, Kotschote S,  Kuhn M, Gehring A, Bergmann C, Bolz HJ,  Stuhrmann M, Biskup S, Metzeler K H,  Klein HG.
Diagnostic applications of next generation sequencing: working towards quality standards.
J Lab Med  36(4):227 (2012)
http://www.degruyter.com/view/j/labm.2012.36.issue-4/labmed-2011-0032/labmed-2011-0032.xml