Markus Draaken

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Pawaree Saisawat, Stefan Kohl, Alina C. Hilger et al. · Kidney International · 2013 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy

Markus Draaken, Heiko Reutter, Charlotte Schramm et al. · European Journal of Medical Genetics · 2010 · 123 citations

Medicine, Molecular Genetics, Urology +9

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

Stefanie Weber, Hölger Thiele, Mohammad R. Toliat et al. · The American Journal of Human Genetics · 2011 · 112 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Deep intronic<i>APC</i>mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis

Isabel Spier, Sukanya Horpaopan, Stefanie Vogt et al. · Human Mutation · 2012 · 74 citations

Life Sciences, Genetics, Molecular Genetics +17

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL‐like association and analysis of <i>EFNB2</i> in patients with anorectal malformations

Gabriel C. Dworschak, Markus Draaken, Carlo Marcelis et al. · American Journal of Medical Genetics Part A · 2013 · 66 citations

Life Sciences, Genetics, Molecular Genetics +17