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BMC Medical Genetics|October 12, 2014
A novel single base pair duplication in WDR62 causes primary microcephalyVerena Rupp, Sobiah Rauf, Ishrat Naveed, et al.Physiological Reports|December 5, 2013
Development of renal renin-expressing cells does not involve PDGF-B-PDGFR-β signalingBjoern Neubauer, Katharina Machura, Verena Rupp, et al.Circulation. Cardiovascular Genetics|March 3, 2016
Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac DeathYuan Xue, Benedikt Schoser, Aliz R Rao, et al.Journal of Medical Genetics|June 2, 2012
Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasmsEduard Schulz, Angelika Valentin, Peter Ulz, et al.American Journal of Human Genetics|May 1, 2012
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disabilityMuzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, et al.American Journal of Human Genetics|September 9, 2017
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental DelaysChristian Windpassinger, Juliette Piard, Carine Bonnard, et al.Pageof 1