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European Journal of Human Genetics : EJHG|June 24, 2025
Houge-Janssens syndromeGunnar Douzgos Houge, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.HGG Advances|May 1, 2026
Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunctionSofia Douzgou Houge, Cecilie Bredrup, Ragnhild Wivestad Jansson, et al.American Journal of Human Genetics|February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrumIris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.Nature Genetics|June 12, 2026
A progeria syndrome links DNA hypermethylation to age-related pathologyDan Sarni, Gráinne Neary, Paula L Carroll, et al.Pageof 1