Contributors
Dov Tiosano: Role: ConceptualizationRole: Formal analysisRole: InvestigationRole: MethodologyRole:
Project administrationRole: SupervisionRole: Writing – review & editing
Hagit N. Baris: Role: ConceptualizationRole: Formal analysisRole: InvestigationRole: Project administrationRole:
SupervisionRole: Writing – review & editing
Anlu Chen: Role: Formal analysisRole: Funding acquisitionRole: InvestigationRole: Writing – original
draftRole: Writing – review & editing
Marrit M. Hitzert: Role: Formal analysisRole: InvestigationRole: Writing – review & editing
Markus Schueler: Role: ConceptualizationRole: Formal analysisRole: InvestigationRole: Writing – review
& editing
Federico Gulluni: Role: ConceptualizationRole: Formal analysisRole: Funding acquisitionRole: InvestigationRole:
MethodologyRole: VisualizationRole: Writing – review & editing
Antje Wiesener: Role: Investigation
Antonio Bergua: Role: Investigation
Adi Mory:
ORCID: http://orcid.org/0000-0003-0487-9633
Role: Investigation
Brett Copeland: Role: Resources
Joseph G. Gleeson: Role: Resources
Patrick Rump:
ORCID: http://orcid.org/0000-0003-4059-0247
Role: Investigation
Hester van Meer: Role: Investigation
Deborah A. Sival: Role: Investigation
Volker Haucke:
ORCID: http://orcid.org/0000-0003-3119-6993
Role: ConceptualizationRole: Resources
Josh Kriwinsky:
ORCID: http://orcid.org/0000-0001-8819-6973
Role: Investigation
Karl X. Knaup: Role: Investigation
André Reis: Role: Investigation
Nadine N. Hauer: Role: Investigation
Emilio Hirsch: Role: ConceptualizationRole: Formal analysisRole: MethodologyRole: Project administrationRole:
SupervisionRole: VisualizationRole: Writing – review & editing
Ronald Roepman: Role: ConceptualizationRole: Formal analysisRole: Project administrationRole: SupervisionRole:
Writing – review & editing
Rolph Pfundt:
ORCID: http://orcid.org/0000-0002-0584-4398
Role: ConceptualizationRole: Project administrationRole: SupervisionRole: Writing
– review & editing
Christian T. Thiel:
ORCID: http://orcid.org/0000-0003-3817-7277
Role: ConceptualizationRole: Project administrationRole: SupervisionRole: Writing
– review & editing
Michael S. Wiesener: Role: ConceptualizationRole: Formal analysisRole: Funding acquisitionRole: Project
administrationRole: SupervisionRole: Writing – review & editing
Mariam G. Aslanyan:
ORCID: http://orcid.org/0000-0001-5675-2031
Role: ConceptualizationRole: Data curationRole: Formal analysisRole: InvestigationRole:
Project administrationRole: SupervisionRole: Writing – review & editing
David A. Buchner:
ORCID: http://orcid.org/0000-0003-3920-4871
Role: ConceptualizationRole: Data curationRole: Funding acquisitionRole: Project administrationRole:
SupervisionRole: Writing – original draftRole: Writing – review & editing
Gregory M. Cooper: Role: Editor
Journal
Journal ID (nlm-ta): PLoS Genet
Journal ID (iso-abbrev): PLoS Genet
Journal ID (publisher-id): plos
Journal ID (pmc): plosgen
Title:
PLoS Genetics
Publisher:
Public Library of Science
(San Francisco, CA USA
)
ISSN
(Print):
1553-7390
ISSN
(Electronic):
1553-7404
Publication date
(Electronic):
29
April
2019
Publication date Collection:
April
2019
Volume: 15
Issue: 4
Electronic Location Identifier: e1008088
Affiliations
[1
]
Division of Pediatric Endocrinology, Ruth Children's Hospital, Rambam Medical Center,
Haifa, Israel
[2
]
Rappaport Family Faculty of Medicine, Technion—Israel Institute of Technology, Haifa,
Israel
[3
]
The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
[4
]
Department of Biochemistry, Case Western Reserve University, Cleveland, Ohio, United
States of America
[5
]
Department of Genetics, University of Groningen, University Medical Center Groningen,
Groningen, The Netherlands
[6
]
Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg,
Erlangen, Germany
[7
]
Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology
Center, University of Turin, Torino, Italy
[8
]
Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen,
Germany
[9
]
Department of Ophthalmology, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen,
Germany
[10
]
Laboratory of Pediatric Brain Diseases, Rockefeller University, New York, New York,
United States of America
[11
]
Department of Neurosciences, University of California, San Diego, La Jolla, California,
United States of America
[12
]
Department of Pediatrics, Beatrix Children’s Hospital, University of Groningen, University
Medical Center Groningen, Groningen, the Netherlands
[13
]
Leibniz-Institut für Molekulare Pharmakologie, Berlin Faculty of Biology, Chemistry,
and Pharmacy, Freie Universität Berlin, Berlin, Germany
[14
]
Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland,
Ohio, United States of America
[15
]
Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud
University Medical Center, Nijmegen, The Netherlands
[16
]
Research Institute for Children’s Health, Case Western Reserve University, Cleveland,
Ohio, United States of America
HudsonAlpha Institute for Biotechnology, UNITED STATES
Author notes
The authors have declared that no competing interests exist.
‡ CTT, MSW, MGA and DAB also contributed equally to this work.
Author information
Article
Publisher ID:
PGENETICS-D-18-02416
DOI: 10.1371/journal.pgen.1008088
PMC ID: 6508738
PubMed ID: 31034465
SO-VID: cf1d8de9-c46c-4866-ae61-a30790756043
Copyright © © 2019 Tiosano et al
License:
This is an open access article distributed under the terms of the
Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided
the original author and source are credited.
History
Date
received
: 21
December
2018
Date
accepted
: 12
March
2019
Page count
Figures: 6,
Tables: 1,
Pages: 21
Funding
This work was supported by the National Institute of Diabetes and Digestive and Kidney
Diseases (NIDDK) (grants DK112846 and DK099533 to D.A.B.), the Sigma Xi Scientific
Research Society (grant G201603152079889 to A.C.), the Deutsche Forschungsgemeinschaft
(DFG) grants: TH 896/3-3, TH 896/3-4, TH 896/6-1, SCHU 3314/1-1, the IZKF (Interdisciplinary
Centre for Clinical Research of the Universität Erlangen-Nürnberg, (FAU)) project
F4, the Fondazione Italiana per la Ricerca sul Cancro (grant FIRC 19421 to F.G.),
and the Johannes und Frieda Marohn-Stiftung of the FAU (WIE/2015). NIDDK:
https://www.niddk.nih.gov/ Sigma Xi Scientific Research Society:
https://www.sigmaxi.org/ DFG:
http://www.dfg.de/en/ IZKF:
https://www.izkf.med.fau.eu/ FIRC:
http://www.fondazionefirc.it/ Johannes und Frieda Marohn-Stiftung:
https://www.fau.de/files/2018/03/Leitfaden-f%C3%BCr-Antragsteller_Marohn-Stiftung.pdf The funders had no role in study design, data collection and analysis, decision to
publish, or preparation of the manuscript.
Categories
Subject:
Research Article
Subject:
Biology and Life Sciences
Subject:
Cell Biology
Subject:
Cellular Structures and Organelles
Subject:
Cilia
Subject:
Biology and Life Sciences
Subject:
Cell Biology
Subject:
Cellular Types
Subject:
Animal Cells
Subject:
Connective Tissue Cells
Subject:
Fibroblasts
Subject:
Biology and Life Sciences
Subject:
Anatomy
Subject:
Biological Tissue
Subject:
Connective Tissue
Subject:
Connective Tissue Cells
Subject:
Fibroblasts
Subject:
Medicine and Health Sciences
Subject:
Anatomy
Subject:
Biological Tissue
Subject:
Connective Tissue
Subject:
Connective Tissue Cells
Subject:
Fibroblasts
Subject:
Biology and Life Sciences
Subject:
Biochemistry
Subject:
Enzymology
Subject:
Enzyme Chemistry
Subject:
Enzyme Metabolism
Subject:
Medicine and Health Sciences
Subject:
Diagnostic Medicine
Subject:
Diagnostic Radiology
Subject:
Magnetic Resonance Imaging
Subject:
Research and Analysis Methods
Subject:
Imaging Techniques
Subject:
Diagnostic Radiology
Subject:
Magnetic Resonance Imaging
Subject:
Medicine and Health Sciences
Subject:
Radiology and Imaging
Subject:
Diagnostic Radiology
Subject:
Magnetic Resonance Imaging
Subject:
Medicine and Health Sciences
Subject:
Ophthalmology
Subject:
Lens Disorders
Subject:
Cataracts
Subject:
Medicine and Health Sciences
Subject:
Metabolic Disorders
Subject:
Biology and Life Sciences
Subject:
Genetics
Subject:
Gene Identification and Analysis
Subject:
Mutation Detection
Subject:
Medicine and Health Sciences
Subject:
Clinical Genetics
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