Publications from the Institute of Medical Genetics (Sample)

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Selected publications

Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S
The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease.
Am J Hum Genet 2008; 83(5):610-615.
Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos S
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Nat Genet 2008; 40(12):1410-1412.
Hecht J, Stricker S, Wiecha U, Stiege A, Panopoulou G, Podsiadlowski L, Poustka AJ, Dieterich C, Ehrich S, Suvorova J, Mundlos S, Seitz V
Evolution of a core gene network for skeletogenesis in chordates.
PLoS Genet 2008; 4(3):e1000025.
Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Nat Genet 2008; 40(1):32-34.
Kolanczyk M, Kossler N, Kühnisch J, Lavitas L, Stricker S, Wilkening U, Manjubala I, Fratzl P, Spörle R, Herrmann BG, Parada LF, Kornak U, Mundlos S
Multiple roles for neurofibromin in skeletal development and growth.
Hum Mol Genet 2007; 16(8):874-876.
Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Am J Hum Genet 2007; 80(2):232-240.
Guo G, Booms P, Halushka M, Dietz HC, Ney A, Stricker S, Hecht J, Mundlos S, Robinson PN
Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment.
Circulation 2006; 114(17):1855-1862.
Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Plöger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.
J Clin Invest 2005; 115(9):2373-2381.
Niedermaier M, Schwabe GC, Fees S, Helmrich A, Brieske N, Seemann P, Hecht J, Seitz V, Stricker S, Leschik G, Schrock E, Selby PB, Mundlos S
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression.
J Clin Invest 2005; 115(4):900-909.
Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Süring K, Majewski F, Tinschert S, Grzeschik KH, Müller D, Knaus P, Nürnberg P, Mundlos S
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
Proc Natl Acad Sci U S A 2003; 100(21):12277-12282.