A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

Patrick Frosk; Heleen H Arts; Julien Philippe; Carter S Gunn; Emma L Brown; Bernard Chodirker; Louise Simard; Jacek Majewski; Somayyeh Fahiminiya; Chad Russell; Yangfan P Liu; FORGE Canada Consortium; Canadian Rare Diseases: Models &amp; Mechanisms Network,; Robert Hegele; Nicholas Katsanis; Conrad Goerz; Marc R Del Bigio; Erica E Davis

doi:10.1136/jmedgenet-2016-104296

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A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

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Patrick Frosk Departments of Pediatrics and Child Health, University of Manitoba, Manitoba, Canada Departments of Biochemistry and Medical Genetics, University of Manitoba, Manitoba, Canada PubMed articles Google scholar articles
Heleen H Arts Departments of Biochemistry, University of Western Ontario, London, Ontario, Canada Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands PubMed articles Google scholar articles
Julien Philippe Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA PubMed articles Google scholar articles
Carter S Gunn Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA PubMed articles Google scholar articles
Emma L Brown Departments of Biochemistry, University of Western Ontario, London, Ontario, Canada PubMed articles Google scholar articles
Bernard Chodirker Departments of Pediatrics and Child Health, University of Manitoba, Manitoba, Canada Departments of Biochemistry and Medical Genetics, University of Manitoba, Manitoba, Canada PubMed articles Google scholar articles
Louise Simard Departments of Biochemistry and Medical Genetics, University of Manitoba, Manitoba, Canada PubMed articles Google scholar articles
Jacek Majewski McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada PubMed articles Google scholar articles
Somayyeh Fahiminiya McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada PubMed articles Google scholar articles
Chad Russell Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA PubMed articles Google scholar articles
Yangfan P Liu Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA PubMed articles Google scholar articles
FORGE Canada Consortium
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Canadian Rare Diseases: Models & Mechanisms Network,
Google scholar articles
Robert Hegele Departments of Biochemistry, University of Western Ontario, London, Ontario, Canada Departments of Medicine, University of Western Ontario, London, Ontario, Canada PubMed articles Google scholar articles
Nicholas Katsanis Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA PubMed articles Google scholar articles
Conrad Goerz Departments of Pathology, University of Manitoba, Manitoba, Canada PubMed articles Google scholar articles
Marc R Del Bigio Departments of Pathology, University of Manitoba, Manitoba, Canada Diagnostic Services Manitoba, Manitoba, Canada PubMed articles Google scholar articles
Erica E Davis Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA PubMed articles Google scholar articles

Correspondence to Dr Patrick Frosk, FE229 Community Services Bldg, 820 Sherbrook St., Winnipeg, Manitoba, Canada MB R3A 1R9; pfrosk{at}hsc.mb.ca and Dr Erica E Davis, 300 N Duke St., Carmichael Building, Room 47-104, Durham, NC 27701 USA; erica.davis{at}duke.edu

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Frosk P, Arts HH, Philippe J, et al

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

Journal of Medical Genetics 2017;54:490-501.

Publication history

Received September 7, 2016
Revised November 8, 2016
Accepted December 14, 2016
First published March 6, 2017.

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September 12, 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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