About the Authors
- Barbara D'haene
-
Contributed equally to this work with: Barbara D'haene, Catia Attanasio, Diane Beysen
Affiliation Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
- Catia Attanasio
-
Contributed equally to this work with: Barbara D'haene, Catia Attanasio, Diane Beysen
Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
- Diane Beysen
-
Contributed equally to this work with: Barbara D'haene, Catia Attanasio, Diane Beysen
Affiliation Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
- Josée Dostie
-
Affiliation Program in Gene Function and Expression and Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, Massachusetts, United States of America
- Edmond Lemire
-
Affiliation Division of Medical Genetics, Royal University Hospital, Saskatoon, Saskatchewan, Canada
- Philippe Bouchard
-
Affiliation Reproductive Endocrine Unit, Hôpital Saint-Antoine, Paris, France
- Michael Field
-
Affiliation Royal North Shore Hospital, Sydney, Australia
- Kristie Jones
-
Affiliation Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, Australia
- Birgit Lorenz
-
Affiliation Department of Ophthalmology, Justus-Liebig-University Giessen, Universitaetsklinikum Giessen und Marburg GmbH Giessen Campus, Giessen, Germany
- Björn Menten
-
Affiliation Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
- Karen Buysse
-
Affiliation Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
- Filip Pattyn
-
Affiliation Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
- Marc Friedli
-
Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
- Catherine Ucla
-
Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
- Colette Rossier
-
Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
- Carine Wyss
-
Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
- Frank Speleman
-
Affiliation Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
- Anne De Paepe
-
Affiliation Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
- Job Dekker
-
Affiliation Program in Gene Function and Expression and Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, Massachusetts, United States of America
- Stylianos E. Antonarakis
-
Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
- Elfride De Baere
-
* E-mail: Elfride.DeBaere@UGent.be
Affiliation Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
Competing Interests
The authors have declared that no competing interests exist.
Author Contributions
Conceived and designed the experiments: B. D'Haene, C. Attanasio, D. Beysen, S. Antonarakis, E. De Baere. Performed the experiments: B. D'Haene, C. Attanasio, D. Beysen, M. Friedli, C. Ucla, C. Rossier, C. Wyss. Analyzed the data: B. D'Haene, C. Attanasio, D. Beysen, J. Dostie, B. Menten, K. Buysee, F. Pattyn, M. Friedli, J. Dekker, E. De Baere. Contributed reagents/materials/analysis tools: B. D'Haene, J. Dostie, E. Lemire, P. Bouchard, M. Field, K. Jones, B. Lorenz, B. Menten, K. Buysee, F. Pattyn, F. Speleman, A. De Paepe, J. Dekker. Wrote the paper: B. D'Haene, C. Attanasio, D. Beysen, J. Dekker, E. De Baere. Experimental work (microsatellite analysis, aCGH, qPCR-3q23, characterization of 7.4 kb deletion, bio-informatics, cloning of human PISRT1 (RACE)): B. D'haene. Experimental work (qPCR-CNC, CNC sequencing, luciferase constructs and assays): C. Attanasio. Experimental work (3C): D. Beysen. Recruited individuals and families affected with BPES: E. De Baere.