Peter Freisinger

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura S. Kremer, Daniel M. Bader, Christian Mertes et al. · Nature Communications · 2017 · 566 citations · Full text

Reexpression of Cartilage-Specific Genes by Dedifferentiated Human Articular Chondrocytes Cultured in Alginate Beads

Jacky Bonaventure, N. Kadhom, L Cohen-Solal et al. · Experimental Cell Research · 1994 · 521 citations

Regenerative Medicine, Tissue Engineering, Musculoskeletal Research +13

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

Víctor L. Ruiz‐Pérez, Susan Ide, Tim M. Strom et al. · Nature Genetics · 2000 · 350 citations

Developmental Anomaly, Mendelian Disorder, Genetic Disorder +7

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 184 citations · Full text