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Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders
View ORCID ProfileJoanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick J. Short, Rebecca I. Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R. F. Reijnders, Alison Yeung, Helger G. Yntema, DDD Study, Lisenka E. L. M. Vissers, Jane Juusola, Caroline F. Wright, Han G. Brunner, Helen V. Firth, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, Christian Gilissen, Kyle Retterer
doi: https://doi.org/10.1101/258723
Joanna Kaplanis
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
Kaitlin E. Samocha
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
Laurens Wiel
2Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands
3Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands
Zhancheng Zhang
4GeneDx, Gaithersburg, Maryland, USA
Kevin J. Arvai
4GeneDx, Gaithersburg, Maryland, USA
Ruth Y. Eberhardt
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
Giuseppe Gallone
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
Stefan H. Lelieveld
2Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands
Hilary C. Martin
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
Jeremy F. McRae
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
Patrick J. Short
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
Rebecca I. Torene
4GeneDx, Gaithersburg, Maryland, USA
Elke de Boer
5Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands
Petr Danecek
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
Eugene J. Gardner
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
Ni Huang
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
Jenny Lord
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
6Human Development and Health, Faculty of Medicine, University of Southampton, UK
Iñigo Martincorena
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
Rolph Pfundt
5Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands
Margot R. F. Reijnders
2Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands
Alison Yeung
7Victorian Clinical Genetics Services, Melbourne, Australia
8Murdoch Children’s Research Institute, Melbourne, Australia
Helger G. Yntema
2Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands
DDD Study
Lisenka E. L. M. Vissers
5Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands
Jane Juusola
4GeneDx, Gaithersburg, Maryland, USA
Caroline F. Wright
9Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK
Han G. Brunner
5Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands
10Department of Clinical Genetics, GROW school for oncology and developmental biology, and MHENS school for mental health and neuroscience, Maastricht University Medical Centre, Maastricht, 6202 AZ, the Netherlands
Helen V. Firth
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
11Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
David R. FitzPatrick
12MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, UK
Jeffrey C. Barrett
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
Matthew E. Hurles
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
Christian Gilissen
2Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands
Kyle Retterer
4GeneDx, Gaithersburg, Maryland, USA
Article usage
Posted December 09, 2019.
Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders
Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick J. Short, Rebecca I. Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R. F. Reijnders, Alison Yeung, Helger G. Yntema, DDD Study, Lisenka E. L. M. Vissers, Jane Juusola, Caroline F. Wright, Han G. Brunner, Helen V. Firth, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, Christian Gilissen, Kyle Retterer
bioRxiv 258723; doi: https://doi.org/10.1101/258723
Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders
Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick J. Short, Rebecca I. Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R. F. Reijnders, Alison Yeung, Helger G. Yntema, DDD Study, Lisenka E. L. M. Vissers, Jane Juusola, Caroline F. Wright, Han G. Brunner, Helen V. Firth, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, Christian Gilissen, Kyle Retterer
bioRxiv 258723; doi: https://doi.org/10.1101/258723
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