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Open Access
Peer-reviewed
Research Article
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder
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Zineb Ammous ,
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Supervision, Visualization, Writing – original draft, Writing – review & editing
* E-mail: zammous@indianachc.org (ZA); E.Baple@exeter.ac.uk (ELB); A.H.Crosby@exeter.ac.uk (AHC)
Affiliation The Community Health Clinic, Topeka, Indiana, United States of America
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Lettie E. Rawlins,
Roles Data curation, Formal analysis, Funding acquisition, Investigation, Writing – original draft, Writing – review & editing
Affiliations Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom, Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, United Kingdom
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Hannah Jones,
Roles Data curation, Investigation
Affiliation Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom
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Joseph S. Leslie,
Roles Data curation, Investigation, Methodology
Affiliation Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom
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Olivia Wenger,
Roles Data curation, Investigation
Affiliation New Leaf Center, Clinic for Special Children, Mount Eaton, Ohio, United States of America
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Ethan Scott,
Roles Data curation, Investigation
Affiliation New Leaf Center, Clinic for Special Children, Mount Eaton, Ohio, United States of America
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Jim Deline,
Roles Data curation, Investigation
Affiliation Center for Special Children, La Farge Medical Center, La Farge, Wisconsin, United States of America
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Tom Herr,
Roles Data curation, Investigation
Affiliation Center for Special Children, La Farge Medical Center, La Farge, Wisconsin, United States of America
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Rebecca Evans,
Roles Data curation, Investigation
Affiliation The Community Health Clinic, Topeka, Indiana, United States of America
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Angela Scheid,
Roles Data curation, Investigation
Affiliation The Community Health Clinic, Topeka, Indiana, United States of America
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Joanna Kennedy,
Roles Writing – review & editing
Affiliation Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom
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Barry A. Chioza,
Roles Data curation, Investigation
Affiliation Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom
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Ryan M. Ames,
Roles Formal analysis, Funding acquisition, Investigation, Software
Affiliation Biosciences, Geoffrey Pope Building, University of Exeter, Exeter, United Kingdom
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Harold E. Cross,
Roles Investigation
Affiliation Department of Ophthalmology, University of Arizona College of Medicine, Tucson, Arizona, United States of America
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Erik G. Puffenberger,
Roles Data curation, Investigation
Affiliation Clinic for Special Children, Strasburg, Pennsylvania, United States of America
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Lorna Harries,
Roles Formal analysis, Investigation, Methodology, Supervision
Affiliation Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom
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Emma L. Baple ,
Roles Conceptualization, Funding acquisition, Investigation, Methodology, Project administration, Supervision, Visualization, Writing – original draft, Writing – review & editing
* E-mail: zammous@indianachc.org (ZA); E.Baple@exeter.ac.uk (ELB); A.H.Crosby@exeter.ac.uk (AHC)
Affiliations Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom, Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, United Kingdom
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Andrew H. Crosby
Roles Conceptualization, Funding acquisition, Investigation, Methodology, Project administration, Supervision, Visualization, Writing – original draft, Writing – review & editing
* E-mail: zammous@indianachc.org (ZA); E.Baple@exeter.ac.uk (ELB); A.H.Crosby@exeter.ac.uk (AHC)
Affiliation Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom
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A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder
- Zineb Ammous,
- Lettie E. Rawlins,
- Hannah Jones,
- Joseph S. Leslie,
- Olivia Wenger,
- Ethan Scott,
- Jim Deline,
- Tom Herr,
- Rebecca Evans,
- Angela Scheid
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- Published: September 27, 2021
- https://doi.org/10.1371/journal.pgen.1009803