HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

Michael J Friez; Susan Sklower Brooks; Roger E Stevenson; Michael Field; Monica J Basehore; Lesley C Adès; Courtney Sebold; Stephen McGee; Samantha Saxon; Cindy Skinner; Maria E Craig; Lucy Murray; Richard J Simensen; Ying Yzu Yap; Marie A Shaw; Alison Gardner; Mark Corbett; Raman Kumar; Matthias Bosshard; Barbara van Loon; Patrick S Tarpey; Fatima Abidi; Jozef Gecz; Charles E Schwartz

doi:10.1136/bmjopen-2015-009537

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Genetics and genomics

Research

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

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Michael J Friez Greenwood Genetic Center, Greenwood, South Carolina, USA PubMed articles Google scholar articles
Susan Sklower Brooks Department of Pediatrics, Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA PubMed articles Google scholar articles
Roger E Stevenson Greenwood Genetic Center, Greenwood, South Carolina, USA PubMed articles Google scholar articles
Michael Field Hunter Genetics, Waratah, New South Wales, Australia PubMed articles Google scholar articles
Monica J Basehore Greenwood Genetic Center, Greenwood, South Carolina, USA PubMed articles Google scholar articles
Lesley C Adès Institute of Endocrinology and Diabetes, The Children's Hospital of Westmead, University of Sydney, Sydney, New South Wales, Australia PubMed articles Google scholar articles
Courtney Sebold University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA PubMed articles Google scholar articles
Stephen McGee Greenwood Genetic Center, Greenwood, South Carolina, USA PubMed articles Google scholar articles
Samantha Saxon Greenwood Genetic Center, Greenwood, South Carolina, USA PubMed articles Google scholar articles
Cindy Skinner Greenwood Genetic Center, Greenwood, South Carolina, USA PubMed articles Google scholar articles
Maria E Craig Institute of Endocrinology and Diabetes, The Children's Hospital of Westmead, University of Sydney, Sydney, New South Wales, Australia PubMed articles Google scholar articles
Lucy Murray Hunter Genetics, Waratah, New South Wales, Australia PubMed articles Google scholar articles
Richard J Simensen Greenwood Genetic Center, Greenwood, South Carolina, USA PubMed articles Google scholar articles
Ying Yzu Yap Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia PubMed articles Google scholar articles
Marie A Shaw Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia PubMed articles Google scholar articles
Alison Gardner Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia PubMed articles Google scholar articles
Mark Corbett Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia PubMed articles Google scholar articles
Raman Kumar Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia PubMed articles Google scholar articles
Matthias Bosshard Institute of Veterinary Biochemistry and Molecular Biology, University of Zurich, Zurich, Switzerland PubMed articles Google scholar articles
Barbara van Loon Institute of Veterinary Biochemistry and Molecular Biology, University of Zurich, Zurich, Switzerland PubMed articles Google scholar articles
Patrick S Tarpey Wellcome Sanger Trust Institute, Cambridge, UK PubMed articles Google scholar articles
Fatima Abidi Greenwood Genetic Center, Greenwood, South Carolina, USA PubMed articles Google scholar articles
Jozef Gecz Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia PubMed articles Google scholar articles
Charles E Schwartz Greenwood Genetic Center, Greenwood, South Carolina, USA PubMed articles Google scholar articles

Correspondence to Dr Michael J Friez; friez{at}ggc.org

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Friez MJ, Brooks SS, Stevenson RE, et al

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

BMJ Open 2016;6:e009537. doi: 10.1136/bmjopen-2015-009537

Publication history

Received January 13, 2016
Revised April 1, 2016
Accepted April 8, 2016
First published April 29, 2016.

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October 26, 2017

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Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

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