Ulrich Broeckel

An Autoinflammatory Disease Due to Homozygous Deletion of the <i>IL1RN</i> Locus

Sreelatha T. Reddy, Shuang Jia, Rhonda Geoffrey et al. · New England Journal of Medicine · 2009 · 411 citations · Full text

Life Sciences, Dermatology, Immunology +17

De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population

Michael D. Kessler, Douglas P. Loesch, James A. Perry et al. · Proceedings of the National Academy of Sciences · 2020 · 112 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Potential Novel Mechanism for Axenfeld-Rieger Syndrome: Deletion of a Distant Region Containing Regulatory Elements of<i>PITX2</i>

B. A. Volkmann, Natalya S. Zinkevich, Aki Mustonen et al. · Investigative Ophthalmology & Visual Science · 2010 · 53 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Phosducin influences sympathetic activity and prevents stress-induced hypertension in humans and mice

Nadine Beetz, Michael D. Harrison, Marc Brede et al. · Journal of Clinical Investigation · 2009 · 42 citations · Full text

Medicine, Molecular Genetics, Physiology +14

Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease

Aoy Tomita‐Mitchell, Donna K. Mahnke, Joshua M. Larson et al. · Physiological Genomics · 2010 · 41 citations

Life Sciences, Genetics, Molecular Genetics +17