Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson–Forssman–Lehmann intellectual disability syndrome

• Helen M. McRae ,

  Contributed equally to this work with: Helen M. McRae, Melody P. Y. Leong

  Roles Formal analysis, Investigation, Validation, Visualization, Writing – original draft

  Affiliations Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia, Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia

  https://orcid.org/0000-0001-7396-0086

  ⨯
• Melody P. Y. Leong ,

  Contributed equally to this work with: Helen M. McRae, Melody P. Y. Leong

  Roles Formal analysis, Investigation, Validation, Visualization, Writing – original draft

  Affiliations Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia, Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia

  https://orcid.org/0000-0002-1481-5644

  ⨯
• Maria I. Bergamasco,

  Roles Formal analysis, Investigation, Validation, Visualization, Writing – original draft

  Affiliations Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia, Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia

  https://orcid.org/0000-0003-3322-9701

  ⨯
• Alexandra L. Garnham,

  Roles Data curation, Formal analysis, Software, Visualization, Writing – original draft

  Affiliations Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia, Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia

  ⨯
• Yifang Hu,

  Roles Data curation, Formal analysis

  Affiliation Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia

  ⨯
• Mark A. Corbett,

  Roles Investigation, Validation, Visualization, Writing – review & editing

  Affiliation Robinson Research Institute and Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia

  ⨯
• Lachlan Whitehead,

  Roles Formal analysis

  Affiliations Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia, Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia

  https://orcid.org/0000-0002-4388-9642

  ⨯
• Farrah El-Saafin,

  Roles Investigation

  Affiliations Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia, Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia

  ⨯
• Bilal N. Sheikh,

  Roles Investigation

  Affiliations Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia, Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia

  https://orcid.org/0000-0002-1970-6236

  ⨯
• Stephen Wilcox,

  Roles Investigation

  Affiliations Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia, Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia

  ⨯
• Anthony J. Hannan,

  Roles Conceptualization, Writing – review & editing

  Affiliations Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia, Department of Anatomy and Physiology, University of Melbourne, Parkville, Victoria, Australia

  https://orcid.org/0000-0001-7532-8922

  ⨯
• Jozef Gécz,

  Roles Conceptualization, Funding acquisition, Supervision, Writing – review & editing

  Affiliations Robinson Research Institute and Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia

  https://orcid.org/0000-0002-7884-6861

  ⨯
• Gordon K. Smyth,

  Roles Data curation, Formal analysis, Supervision, Writing – review & editing

  Affiliations Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia, School of Mathematics and Statistics, The University of Melbourne, Parkville, Victoria, Australia

  https://orcid.org/0000-0001-9221-2892

  ⨯
• Tim Thomas ,

  Roles Conceptualization, Funding acquisition, Supervision, Writing – review & editing

  * E-mail: tthomas@wehi.edu.au (TT); avoss@wehi.edu.au (AKV)

  ¶‡ These authors are joint senior authors on this work.

  Affiliations Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia, Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia

  https://orcid.org/0000-0002-7623-8344

  ⨯
• Anne K. Voss

  Roles Conceptualization, Formal analysis, Funding acquisition, Project administration, Supervision, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: tthomas@wehi.edu.au (TT); avoss@wehi.edu.au (AKV)

  ¶‡ These authors are joint senior authors on this work.

  Affiliations Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia, Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia

  https://orcid.org/0000-0002-3853-9381

  ⨯