Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related DisordersDominyka Batkovskyte, Giedré Grigelioniené|Journal of Bone and Mineral Research|2020Cited by 18
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed HackathonA M Delgado-Vega, Mariya Lysenkova Wiklander, Anders Jemt et al.|Nature Genetics|2024Cited by 7
Structural Variants in <scp><i>COL1A1</i></scp> and <scp><i>COL1A2</i></scp> in Osteogenesis ImperfectaDominyka Batkovskyte, Giedré Grigelioniené|American Journal of Medical Genetics Part A|2024Cited by 6