Title: Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2
Authors: orcid: https://orcid.org/0000-0001-5148-4744
last_name: Reynisdottir
first_name: Tinna
name: Tinna Reynisdottir
affiliations: label: 1
address: Laboratory of Translational Medicine, Faculty of Medicine, University of Iceland, Reykjavik, Iceland
name: Laboratory of Translational Medicine, Faculty of Medicine, University of Iceland, Reykjavik, Iceland
orcid: https://orcid.org/0000-0003-0629-6343
last_name: Anderson
first_name: Kimberley Jade
name: Kimberley Jade Anderson
affiliations: label: 1
address: Laboratory of Translational Medicine, Faculty of Medicine, University of Iceland, Reykjavik, Iceland
name: Laboratory of Translational Medicine, Faculty of Medicine, University of Iceland, Reykjavik, Iceland
last_name: Boukas
first_name: Leandros
name: Leandros Boukas
corresponding: yes
affiliations: label: 2
address: McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
name: McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
label: 3
address: Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, United States of America
name: Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, United States of America
orcid: https://orcid.org/0000-0001-6635-6753
last_name: Bjornsson
first_name: Hans Tomas
name: Hans Tomas Bjornsson
corresponding: yes
affiliations: label: 1
address: Laboratory of Translational Medicine, Faculty of Medicine, University of Iceland, Reykjavik, Iceland
name: Laboratory of Translational Medicine, Faculty of Medicine, University of Iceland, Reykjavik, Iceland
label: 2
address: McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
name: McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
label: 4
address: Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland, United States of America
name: Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland, United States of America
label: 5
address: Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland
name: Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland
last_name: Greally
first_name: John M.
name: John M. Greally
last_name: Greally
first_name: John M.
name: John M. Greally
last_name: Greally
first_name: John M.
name: John M. Greally
Affiliations: label: 1
address: Laboratory of Translational Medicine, Faculty of Medicine, University of Iceland, Reykjavik, Iceland
name: Laboratory of Translational Medicine, Faculty of Medicine, University of Iceland, Reykjavik, Iceland
label: 2
address: McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
name: McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
label: 3
address: Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, United States of America
name: Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, United States of America
label: 4
address: Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland, United States of America
name: Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland, United States of America
label: 5
address: Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland
name: Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland
address: Albert Einstein College of Medicine, UNITED STATES
name: Albert Einstein College of Medicine, UNITED STATES
Field: Biochemistry, Genetics and Molecular Biology
Document type: article
Year: 2022