Ousager, Lilian Bomme

Top Publications

Top Publications Authored or Co-Authored by "Ousager, Lilian Bomme"

• Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

  Blood, Volume 119, No. 25, Year 2012, Citations 142
• Mutation spectrum in the large gtpase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

  Human Mutation, Volume 33, No. 6, Year 2012, Citations 116
• Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 51
• Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

  BMC Medical Genetics, Volume 15, No. 1, Article 31, Year 2014, Citations 20
• Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

  Clinical Genetics, Volume 90, No. 3, Year 2016, Citations 18