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Kaitlin Samocha
Kaplanis et al., 2019
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@misc{Kaplanis2019, author = {Kaplanis, Joanna and Samocha, Kaitlin E. and Wiel, Laurens and Zhang, Zhancheng and Arvai, Kevin J. and Eberhardt, Ruth Y. and Gallone, Giuseppe and Lelieveld, Stefan H. and Martin, Hilary C. and McRae, Jeremy F. and Short, Patrick J. and Torene, Rebecca I. and de Boer, Elke and Danecek, Petr and Gardner, Eugene J. and Huang, Ni and Lord, Jenny and Martincorena, Iñigo and Pfundt, Rolph and Reijnders, Margot R. F. and Yeung, Alison and Yntema, Helger G. and Ddd, Study and Vissers, Lisenka E. L. M. and Juusola, Jane and Wright, Caroline F. and Brunner, Han G. and Firth, Helen V. and FitzPatrick, David R. and Barrett, Jeffrey C. and Hurles, Matthew E. and Gilissen, Christian and Retterer, Kyle}, month = {oct}, title = {Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders}, year = {2019} }
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Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders
Published in 2019 by
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
and
other authors.
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
,
Study Ddd
,
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
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