This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1002/humu.23605. This article is protected by copyright. All rights reserved. Research Article Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias Maria Pettersson 1* , Raquel Vaz 2* , Anna Hammarsjö 1 , Jesper Eisfeldt 2,3 , Claudia M.B. Carvalho 4 , Wolfgang Hofmeister 2 , Emma Tham 1 , Eva Horemuzova 5 , Ulrika Voss 6 , Gen Nishimura 7 , Bo Klintberg 8 , Ann Nordgren 1 , Daniel Nilsson 1,3 , Giedre Grigelioniene 1# and Anna Lindstrand 1# Maria Pettersson and Raquel Vaz should be considered as joint first author. Anna Lindstrand and Giedre Grigelioniene should be considered as joint senior author. 1. Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden 2. Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden 3. Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden 4. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX, USA 5. Department of Women's and Children's Health, Karolinska Institutet and Paediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, Sweden 6. Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden 7. Intractable Disease Center, Saitama University Hospital, Saitama, Japan 8. Department of Pediatrics, Visby Hospital, Visby, Sweden