Genome Medicine
ISSN: 1756-994X
Publisher: BMC
Publications (14)
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders (2021)
Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, et al.
Journal article
Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals (2020)
Di Maio S, Grüneis R, Streiter G, Lamina C, Maglione M, Schoenherr S, Öfner D, et al.
Journal article
cfNOMe - A single assay for comprehensive epigenetic analyses of cell-free DNA (2020)
Erger F, Nörling D, Borchert D, Leenen E, Habbig S, Wiesener M, Bartram MP, et al.
Journal article
So rare we need to hunt for them: Reframing the ethical debate on incidental findings (2015)
Schuol S, Schickhardt C, Wiemann S, Bartram C, Tanner K, Eils R, Meder B, et al.
Journal article