Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity

• Aaron D. Besterman,

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliations University of California Los Angeles, Semel Institute for Neuroscience and Human Behavior, Los Angeles, California, United States of America, University of California Los Angeles, Division of Child and Adolescent Psychiatry, Department of Psychiatry, Los Angeles, California, United States of America, University of California Los Angeles, Division of Medical Genetics, Department of Pediatrics, Los Angeles, California, United States of America, University of California San Diego Department of Psychiatry, Division of Child and Adolescent Psychiatry, San Diego, California, United States of America, Rady Children’s Hospital of San Diego, San Diego, California, United States of America, Rady Children’s Institute for Genomic Medicine, San Diego, California, United States of America

  https://orcid.org/0000-0002-8671-1203

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• Thorsten Althoff,

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliation Department of Physiology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America

  https://orcid.org/0000-0001-5688-5328

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• Peter Elfferich,

  Roles Formal analysis, Investigation

  Affiliation Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands

  https://orcid.org/0000-0001-6684-7114

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• Irma Gutierrez-Mejia,

  Roles Data curation, Project administration

  Affiliations University of California Los Angeles, Division of Medical Genetics, Department of Pediatrics, Los Angeles, California, United States of America, University of California Los Angeles, Department of Human Genetics, Los Angeles, California, United States of America

  https://orcid.org/0000-0003-3590-3202

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• Joshua Sadik,

  Roles Data curation, Project administration

  Affiliation University of California Los Angeles, David Geffen School of Medicine, Los Angeles, California, United States of America

  https://orcid.org/0000-0002-9371-893X

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• Jonathan A. Bernstein,

  Roles Investigation, Writing – review & editing

  Affiliation Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California, United States of America

  https://orcid.org/0000-0001-5369-346X

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• Yvette van Ierland,

  Roles Investigation, Writing – review & editing

  Affiliations Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands, ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands

  https://orcid.org/0000-0003-1055-9855

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• Anja A. Kattentidt-Mouravieva,

  Roles Investigation, Writing – review & editing

  Affiliation Zuidweste Foundation, Middelharnis, The Netherlands

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• Mark Nellist,

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Supervision, Writing – original draft, Writing – review & editing

  Affiliations Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands, ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands

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• Jeff Abramson,

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

  Affiliation Department of Physiology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America

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• Julian A. Martinez-Agosto

  Roles Conceptualization, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Writing – original draft, Writing – review & editing

  * E-mail: julianmartinez@mednet.ucla.edu

  Affiliations University of California Los Angeles, Semel Institute for Neuroscience and Human Behavior, Los Angeles, California, United States of America, University of California Los Angeles, Division of Medical Genetics, Department of Pediatrics, Los Angeles, California, United States of America, University of California Los Angeles, Department of Human Genetics, Los Angeles, California, United States of America

  https://orcid.org/0000-0001-6776-6949

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