Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

• Megan McSherry ,

  Contributed equally to this work with: Megan McSherry, Katherine E. Masih

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

  Affiliation John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America

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• Katherine E. Masih ,

  Contributed equally to this work with: Megan McSherry, Katherine E. Masih

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

  Affiliation John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America

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• Nursel H. Elcioglu,

  Roles Conceptualization, Data curation, Investigation, Resources, Writing – review & editing

  Affiliations Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey, Eastern Mediterranean University Medical School, Cyprus, Mersin 10, Turkey

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• Pelin Celik,

  Roles Data curation, Investigation, Writing – review & editing

  Affiliation Division of Developmental Pediatrics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey

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• Ozge Balci,

  Roles Data curation, Investigation, Writing – review & editing

  Affiliation Division of Developmental Pediatrics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey

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• Filiz Basak Cengiz,

  Roles Methodology, Software, Validation

  Affiliation John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America

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• Daniella Nunez,

  Roles Data curation, Methodology

  Affiliation John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America

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• Claire J. Sineni,

  Roles Data curation, Writing – review & editing

  Affiliation John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America

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• Serhat Seyhan,

  Roles Data curation, Investigation, Writing – review & editing

  Affiliation John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America

  http://orcid.org/0000-0002-7785-2995

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• Defne Kocaoglu,

  Roles Investigation, Writing – review & editing

  Affiliation Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey

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• Shengru Guo,

  Roles Formal analysis, Software

  Affiliation John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America

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• Duygu Duman,

  Roles Investigation, Resources

  Affiliation Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey

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• Guney Bademci,

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

  Affiliation John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America

  http://orcid.org/0000-0002-4052-8833

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• Mustafa Tekin

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Writing – review & editing

  * E-mail: mtekin@med.miami.edu

  Affiliations John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America, Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, United States of America

  http://orcid.org/0000-0002-3525-7960

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