Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases-Reference-Cited by-同舟云学术

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

Published:2018-10-05 Issue:10 Volume:13 Page:e0205298
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Aristidou Constantia,Theodosiou Athina^ORCID,Bak Mads,Mehrjouy Mana M.,Constantinou Efthymia,Alexandrou Angelos,Papaevripidou Ioannis,Christophidou-Anastasiadou Violetta,Skordis Nicos,Kitsiou-Tzeli Sophia,Tommerup Niels,Sismani Carolina^ORCID

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference40 articles.

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3. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome;MC Bonaglia;Am J Hum Genet,2001

4. Characterising and predicting haploinsufficiency in the human genome;N Huang;PLoS Genet,2010

5. Position Effect in Human Genetic Disease;D-J Kleinjan;Hum Mol Genet,1998

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