eye diseases

  • Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
    Guillaume Olivier, Marta Corton, Daniela Intartaglia, Sanne K Verbakel, Panagiotis I Sergouniotis, Guylène Le Meur, Claire-Marie Dhaenens, Hélène Naacke, Almudena Avila-Fernández, Carel B Hoyng, Jeroen Klevering, Béatrice Bocquet, Agathe Roubertie, Audrey Sénéchal, Sandro Banfi, Agnès Muller, Christian L Hamel, Graeme C Black, Ivan Conte, Susanne Roosing, Xavier Zanlonghi, Carmen Ayuso, Isabelle Meunier, Gaël Manes
  • BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
    Zeinab Fadaie, Laura Whelan, Adrian Dockery, Catherina H Z Li, L Ingeborgh van den Born, Carel B Hoyng, Christian Gilissen, Jordi Corominas, Charlie Rowlands, Roly Megaw, Anne K Lampe, Frans P M Cremers, Gwyneth Jane Farrar, Jamie M Ellingford, Paul F. Kenna, Susanne Roosing
  • Loss-of-function variants in POT1 predispose to uveal melanoma
    Vaishnavi Nathan, Jane M Palmer, Peter A Johansson, Hayley R Hamilton, Sunil K Warrier, William Glasson, Lindsay A McGrath, Vivian F S Kahl, Raja S Vasireddy, Hilda A Pickett, Kelly M Brooks, Antonia L Pritchard, Nicholas K Hayward
  • DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation
    Lev Prasov, Brenda L Bohnsack, Antonette S El Husny, Lam C Tsoi, Bin Guan, J Michelle Kahlenberg, Edmundo Almeida, Haitao Wang, Edward W Cowen, Adriana A De Jesus, Priyam Jani, Allison C Billi, Sayoko E Moroi, Rachael Wasikowski, Izabela Almeida, Luciana N Almeida, Fernando Kok, Sarah J Garnai, Shahzad I Mian, Marcus Y Chen, Blake M Warner, Carlos R Ferreira, Raphaela Goldbach-Mansky, Sun Hur, Brian P Brooks, Julia E Richards, Robert B Hufnagel, Johann E Gudjonsson
  • Dysfunction of VIPR2 leads to myopia in humans and mice
    Fuxin Zhao, Qihang Li, Wei Chen, He Zhu, Dengke Zhou, Peter Sol Reinach, Zhenglin Yang, Mingguang He, Anquan Xue, Deng Wu, Tianzi Liu, Qian Fu, Changqing Zeng, Jia Qu, Xiangtian Zhou