IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

• Zeineb Bakey ,

  Contributed equally to this work with: Zeineb Bakey, Oscar A. Cabrera

  Roles Investigation, Writing – review & editing

  Affiliations Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, Germany, Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands

  ⨯
• Oscar A. Cabrera ,

  Contributed equally to this work with: Zeineb Bakey, Oscar A. Cabrera

  Roles Investigation, Writing – original draft

  Affiliation Program in Molecular Medicine, University of Massachusetts Chan Medical School, Biotech II, Worcester, Massachusetts, United States of America

  ⨯
• Julia Hoefele,

  Roles Resources, Writing – review & editing

  Affiliation Institute for Human Genetics, Technical University Munich (TUM), School of Medicine, Munich, Germany

  ⨯
• Dinu Antony,

  Roles Resources, Writing – review & editing

  Affiliations Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, Germany, Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands

  ⨯
• Kaman Wu,

  Roles Investigation, Writing – review & editing

  Affiliation Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands

  ⨯
• Michael W. Stuck,

  Roles Investigation, Writing – review & editing

  Affiliation Program in Molecular Medicine, University of Massachusetts Chan Medical School, Biotech II, Worcester, Massachusetts, United States of America

  ⨯
• Dimitra Micha,

  Roles Investigation, Writing – review & editing

  Affiliation Department of Human Genetics, Amsterdam Movement Sciences, Amsterdam UMC, Amsterdam, The Netherlands

  ⨯
• Thibaut Eguether,

  Roles Investigation, Writing – review & editing

  Affiliation Program in Molecular Medicine, University of Massachusetts Chan Medical School, Biotech II, Worcester, Massachusetts, United States of America

  ⨯
• Abigail O. Smith,

  Roles Investigation, Writing – review & editing

  Affiliation Program in Molecular Medicine, University of Massachusetts Chan Medical School, Biotech II, Worcester, Massachusetts, United States of America

  ⨯
• Nicole N. van der Wel,

  Roles Investigation, Writing – review & editing

  Affiliation Electron microscopy Center Amsterdam, Department of Medical Biology, VUMC, Amsterdam, The Netherlands

  ⨯
• Matias Wagner,

  Roles Resources, Writing – review & editing

  Affiliation Institute for Human Genetics, Technical University Munich (TUM), School of Medicine, Munich, Germany

  ⨯
• Lara Strittmatter,

  Roles Investigation, Writing – review & editing

  Affiliation Electron Microscopy Core, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America

  ⨯
• Philip L. Beales,

  Roles Resources, Writing – review & editing

  Affiliation Genetics and Genomic Medicine Programme, University College London, UCL Great Ormond Street Institute of Child Health, London, United Kingdom

  ⨯
• Julie A. Jonassen,

  Roles Investigation, Writing – review & editing

  Affiliation Department of Microbiology and Physiological Systems, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America

  ⨯
• Isabelle Thiffault,

  Roles Resources, Writing – review & editing

  Affiliation Genomic Medicine Center, Children’s Mercy Hospital, Kansas City, Missouri, United States of America

  https://orcid.org/0000-0001-7987-6731

  ⨯
• Maxime Cadieux-Dion,

  Roles Resources, Writing – review & editing

  Affiliation Genomic Medicine Center, Children’s Mercy Hospital, Kansas City, Missouri, United States of America

  ⨯
• Laura Boyes,

  Roles Resources, Writing – review & editing

  Affiliation West Midlands Genomic Medicine Hub, Birmingham Women’s Hospital, Birmingham, United Kingdom

  ⨯
• Saba Sharif,

  Roles Resources, Writing – review & editing

  Affiliation West Midlands Genomic Medicine Hub, Birmingham Women’s Hospital, Birmingham, United Kingdom

  ⨯
• Beyhan Tüysüz,

  Roles Resources, Writing – review & editing

  Affiliation Department of Pediatrics, Division of Pediatric Genetics, Cerrahpasa Medical Faculty, University-Cerrahpasa, Istanbul, Turkey

  ⨯
• Desiree Dunstheimer,

  Roles Resources, Writing – review & editing

  Affiliation Center for Pediatrics and Adolescent Medicine, University Hospital Augsburg, Augsburg, Germany

  ⨯
• Hans W. M. Niessen,

  Roles Investigation, Writing – review & editing

  Affiliation Department of Pathology, Amsterdam University Medical Center (AUMC), Amsterdam, The Netherlands

  ⨯
• William Devine,

  Roles Investigation, Writing – review & editing

  Affiliation Department of Developmental Biology, University of Pittsburgh, 8111 Rangos Research Center, Pittsburgh, Pennsylvania, United States of America

  ⨯
• Cecilia W. Lo,

  Roles Investigation, Writing – review & editing

  Affiliation Department of Developmental Biology, University of Pittsburgh, 8111 Rangos Research Center, Pittsburgh, Pennsylvania, United States of America

  ⨯
• Hannah M. Mitchison ,

  Roles Data curation, Resources, Writing – original draft, Writing – review & editing

  * E-mail: H.Mitchison@ucl.ac.uk (HMM); Miriam.Schmidts@uniklinik-freiburg.de (MS); gregory.pazour@umassmed.edu (GJP)

  Affiliation Genetics and Genomic Medicine Programme, University College London, UCL Great Ormond Street Institute of Child Health, London, United Kingdom

  ⨯
• Miriam Schmidts ,

  Roles Conceptualization, Data curation, Funding acquisition, Resources, Writing – original draft, Writing – review & editing

  * E-mail: H.Mitchison@ucl.ac.uk (HMM); Miriam.Schmidts@uniklinik-freiburg.de (MS); gregory.pazour@umassmed.edu (GJP)

  Affiliations Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, Germany, Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands, CIBSS—Center for Integrative Biological Signaling Studies, University of Freiburg, Freiburg, Germany

  ⨯
•  [ ... ],
• Gregory J. Pazour

  Roles Conceptualization, Data curation, Funding acquisition, Resources, Writing – original draft, Writing – review & editing

  * E-mail: H.Mitchison@ucl.ac.uk (HMM); Miriam.Schmidts@uniklinik-freiburg.de (MS); gregory.pazour@umassmed.edu (GJP)

  Affiliation Program in Molecular Medicine, University of Massachusetts Chan Medical School, Biotech II, Worcester, Massachusetts, United States of America

  https://orcid.org/0000-0002-6285-8796

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