Seelow, Dominik

MutationTaster evaluates disease-causing potential of sequence alterations

Schwarz, J. M., Rödelsperger, C., Schuelke, M., & Seelow, D. (2010) · Nature Methods

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 2,975

The human phenotype ontology: a tool for annotating and analyzing human hereditary disease

Robinson, P. N., Köhler, S., Bauer, S., Seelow, D., Horn, D., & Mundlos, S. (2008) · The American Journal of Human Genetics

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

Cited by 1,034

The Human Phenotype Ontology in 2024: phenotypes around the world

Gargano, M. A., Matentzoglu, N., Coleman, B., Addo-Lartey, E. B., Anagnostopoulos, A. V., Anderton, J., Avillach, P., Bagley, A. M., Bakštein, E., Balhoff, J. P., et al. (2024) · Nucleic Acids Research

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

Cited by 410

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

Robinson, P. N., Köhler, S., Oellrich, A., Sanger Mouse Genetics Project, Wang, K., Mungall, C. J., Lewis, S. E., Washington, N., Bauer, S., Seelow, D., et al. (2014) · Genome Research

Genomics and Rare DiseasesBioinformatics and Genomic Networks

Cited by 375

RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

Jenkins, D., Seelow, D., Jehee, F. S., Perlyn, C. A., Alonso, L. G., Bueno, D. F., Donnai, D., Josifiova, D., Mathijssen, I. M. J., Morton, J. E. V., et al. (2007) · The American Journal of Human Genetics

Craniofacial Disorders and TreatmentsHedgehog Signaling Pathway Studies

Cited by 276

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

Sczakiel, H. L., Zhao, M., Wollert-Wulf, B., Danyel, M., Ehmke, N., Stoltenburg, C., Damseh, N., Al-Ashhab, M., Balci, T. B., Osmond, M., et al. (2023) · European Journal of Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 8

FINCA syndrome beyond pulmonary affection: biallelic NHLRC2 variants in eight families with intellectual disability and epilepsy

Boschann, F., Sczakiel, H., Zhao, M., Danyel, M., Stoltenburg, C., Damseh, N., Ashhab, M., Balci, T., Engelen, K. V., Osmond, M., et al. (2022) · European Journal of Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 8