Dominik Seelow

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

Peter N. Robinson, Sebastian Köhler, Sebastian Bauer et al. · The American Journal of Human Genetics · 2008 · 1.1K citations · Full text

Life Sciences, Bioinformatics, Genetics +13

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Bernward Hinkes, Roger C. Wiggins, Rasheed Gbadegesin et al. · Nature Genetics · 2006 · 564 citations

Medicine, Genetics, Molecular Genetics +14

Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement

Martin Konrad, André Schaller, Dominik Seelow et al. · The American Journal of Human Genetics · 2006 · 522 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Improved exome prioritization of disease genes through cross-species phenotype comparison

Peter N. Robinson, Sebastian Köhler, Anika Oellrich et al. · Genome Research · 2013 · 386 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

HomozygosityMapper--an interactive approach to homozygosity mapping

Dominik Seelow, Markus Schuelke, Friedhelm Hildebrandt et al. · Nucleic Acids Research · 2009 · 375 citations · Full text

Life Sciences, Bioinformatics, Genetics +17