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Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features
Jessica X. Chong, Joon-Ho Yu, Peter Lorentzen, Karen M. Park, Seema M. Jamal, Holly K. Tabor, Anita Rauch, Margarita Sifuentes Saenz, Eugen Boltshauser, Karynne E. Patterson, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Michael J. Bamshad
doi: https://doi.org/10.1101/028241
Jessica X. Chong
1Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
PhDJoon-Ho Yu
1Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
PhDPeter Lorentzen
2Department of Political Science, University of California, Berkeley, Berkeley, CA 94720, USA
PhDKaren M. Park
3citizen scientist, San Francisco, CA, USA 94131
MBASeema M. Jamal
1Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
MSc CGCHolly K. Tabor
1Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
4Treuman Katz Center for Pediatric Bioethics, Seattle Children’s Research Institute, Seattle, WA 98101, USA
8Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
PhDAnita Rauch
5Institute for Medical Genetics, University of Zurich, Zurich, Switzerland
MDMargarita Sifuentes Saenz
6Department of Pediatrics, University of Colorado, Aurora, CO 80045, USA
MDEugen Boltshauser
7Children’s Hospital of the University of Zurich, Zurich, Switzerland
Karynne E. Patterson
8Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
Deborah A. Nickerson
8Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
PhDMichael J. Bamshad
1Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
8Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
9Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA
MDArticle usage
Posted October 03, 2015.
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features
Jessica X. Chong, Joon-Ho Yu, Peter Lorentzen, Karen M. Park, Seema M. Jamal, Holly K. Tabor, Anita Rauch, Margarita Sifuentes Saenz, Eugen Boltshauser, Karynne E. Patterson, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Michael J. Bamshad
bioRxiv 028241; doi: https://doi.org/10.1101/028241
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features
Jessica X. Chong, Joon-Ho Yu, Peter Lorentzen, Karen M. Park, Seema M. Jamal, Holly K. Tabor, Anita Rauch, Margarita Sifuentes Saenz, Eugen Boltshauser, Karynne E. Patterson, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Michael J. Bamshad
bioRxiv 028241; doi: https://doi.org/10.1101/028241
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