New Results
The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients
Giuliana Giannuzzi, Paul J. Schmidt, Eleonora Porcu, Gilles Willemin, Katherine M. Munson, Xander Nuttle, Rachel Earl, Jacqueline Chrast, Kendra Hoekzema, Davide Risso, Katrin Männik, Pasquelena De Nittis, Ethan D. Baratz, 16p11.2 Consortium, Yann Herault, Xiang Gao, Caroline C. Philpott, Raphael A. Bernier, Zoltan Kutalik, Mark D. Fleming, Evan E. Eichler, Alexandre Reymond
doi: https://doi.org/10.1101/693952
Giuliana Giannuzzi
1Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland
Paul J. Schmidt
2Department of Pathology, Boston Children’s Hospital, Boston, MA 02115, USA
Eleonora Porcu
1Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland
3Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland
Gilles Willemin
1Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland
Katherine M. Munson
4Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
Xander Nuttle
4Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
12Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA. Department of Neurology, Harvard Medical School, Boston, MA 02115, USA. Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, USA
Rachel Earl
5Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA
Jacqueline Chrast
1Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland
Kendra Hoekzema
4Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
Davide Risso
4Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
Katrin Männik
1Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland
Pasquelena De Nittis
1Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland
Ethan D. Baratz
6Genetics and Metabolism Section, Liver Diseases Branch, NIDDK, National Institutes of Health, Bethesda, MD 20892, USA
Yann Herault
8University of Strasbourg, CNRS, INSERM, PHENOMIN-ICS, Institute of Genetics and Molecular and Cellular Biology, 1 rue Laurent Fries, 67404 Illkirch, France
Xiang Gao
9Model Animal Research Center, Collaborative Innovation Center for Genetics and Development, Nanjing Biomedical Research Institute, Nanjing University, Nanjing, 210061 China
Caroline C. Philpott
6Genetics and Metabolism Section, Liver Diseases Branch, NIDDK, National Institutes of Health, Bethesda, MD 20892, USA
Raphael A. Bernier
5Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA
Zoltan Kutalik
3Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland
10University Center for Primary Care and Public Health, 1010 Lausanne, Switzerland
Mark D. Fleming
2Department of Pathology, Boston Children’s Hospital, Boston, MA 02115, USA
Evan E. Eichler
4Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
11Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA
Alexandre Reymond
1Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland
Article usage
Posted July 05, 2019.
The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients
Giuliana Giannuzzi, Paul J. Schmidt, Eleonora Porcu, Gilles Willemin, Katherine M. Munson, Xander Nuttle, Rachel Earl, Jacqueline Chrast, Kendra Hoekzema, Davide Risso, Katrin Männik, Pasquelena De Nittis, Ethan D. Baratz, 16p11.2 Consortium, Yann Herault, Xiang Gao, Caroline C. Philpott, Raphael A. Bernier, Zoltan Kutalik, Mark D. Fleming, Evan E. Eichler, Alexandre Reymond
bioRxiv 693952; doi: https://doi.org/10.1101/693952
The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients
Giuliana Giannuzzi, Paul J. Schmidt, Eleonora Porcu, Gilles Willemin, Katherine M. Munson, Xander Nuttle, Rachel Earl, Jacqueline Chrast, Kendra Hoekzema, Davide Risso, Katrin Männik, Pasquelena De Nittis, Ethan D. Baratz, 16p11.2 Consortium, Yann Herault, Xiang Gao, Caroline C. Philpott, Raphael A. Bernier, Zoltan Kutalik, Mark D. Fleming, Evan E. Eichler, Alexandre Reymond
bioRxiv 693952; doi: https://doi.org/10.1101/693952
Subject Area
Subject Areas
- Biochemistry (11715)
- Bioengineering (8723)
- Bioinformatics (29129)
- Biophysics (14936)
- Cancer Biology (12049)
- Cell Biology (17359)
- Clinical Trials (138)
- Developmental Biology (9406)
- Ecology (14144)
- Epidemiology (2067)
- Evolutionary Biology (18268)
- Genetics (12221)
- Genomics (16767)
- Immunology (11843)
- Microbiology (28014)
- Molecular Biology (11560)
- Neuroscience (60814)
- Paleontology (450)
- Pathology (1864)
- Pharmacology and Toxicology (3231)
- Physiology (4940)
- Plant Biology (10384)
- Synthetic Biology (2878)
- Systems Biology (7333)
- Zoology (1642)