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Open Access
Peer-reviewed
Research Article
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
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Sara Dahl ,
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Visualization, Writing – original draft, Writing – review & editing
* E-mail: sara.dahl@ki.se
Affiliation Department of Women’s and Children’s Health, Neuropediatric Unit, Karolinska Institutet, Stockholm, Sweden
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Maria Pettersson,
Roles Data curation, Formal analysis, Methodology, Validation, Visualization, Writing – review & editing
Affiliation Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
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Jesper Eisfeldt,
Roles Data curation, Formal analysis, Methodology, Software, Validation, Writing – review & editing
Affiliations Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden, Science for Life Laboratory, Karolinska Institutet Science Park, Stockholm, Sweden
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Anna Katharina Schröder,
Roles Investigation, Validation, Writing – review & editing
Affiliation Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
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Ronny Wickström,
Roles Conceptualization, Funding acquisition, Supervision, Writing – review & editing
Affiliation Department of Women’s and Children’s Health, Neuropediatric Unit, Karolinska Institutet, Stockholm, Sweden
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Kristina Teär Fahnehjelm,
Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Visualization, Writing – review & editing
Affiliations Department of Paediatric Ophthalmology, St. Erik Eye Hospital, Stockholm, Sweden, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden
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Britt-Marie Anderlid,
Roles Conceptualization, Funding acquisition, Methodology, Supervision, Writing – review & editing
Affiliations Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
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Anna Lindstrand
Roles Formal analysis, Funding acquisition, Methodology, Resources, Supervision, Writing – review & editing
Affiliations Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
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Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
- Sara Dahl,
- Maria Pettersson,
- Jesper Eisfeldt,
- Anna Katharina Schröder,
- Ronny Wickström,
- Kristina Teär Fahnehjelm,
- Britt-Marie Anderlid,
- Anna Lindstrand
- Published: February 10, 2020
- https://doi.org/10.1371/journal.pone.0228622