Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events-Reference-Cited by-同舟云学术

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events

Published:2016-05-02 Issue:7 Volume:170 Page:1820-1825
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Armour Christine M.¹²,Smith Amanda¹²,Hartley Taila²,Chardon Jodi Warman¹²,Sawyer Sarah¹²,Schwartzentruber Jeremy³,Hennekam Raoul⁴,Majewski Jacek⁵,Bulman Dennis E.²,Suri Mohnish⁶,Boycott Kym M.¹²,

Affiliation:

1. Department of Genetics; Children's Hospital of Eastern Ontario; Ottawa Canada

2. Children's Hospital of Eastern Ontario Research Institute; University of Ottawa; Ottawa Canada

3. McGill University and Genome Quebec Innovation Centre; Montreal Canada

4. Department of Pediatrics; Academic Medical Centre, University of Amsterdam; Amsterdam The Netherlands

5. Department of Human Genetics; McGill University; Montreal Canada

6. Nottingham Clinical Genetics Service; City Hospital Campus, Nottingham University Hospitals NHS Trust; Nottingham UK

Funder

Genome Canada

Canadian Institutes of Health Research (CIHR)

Ontario Genomics Institute (OGI-049)

Genome Quebec

Genome British Columbia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference22 articles.

1. Fitzsimmons syndrome: Spastic paraplegia, brachydactyly and cognitive impairment;Armour;Am J Med Genet Part A,2009

2. A CTNNA3 compound heterozygous deletion implicates a role for alphaT-catenin in susceptibility to autism spectrum disorder;Bacchelli;J Neurodev Disord,2014

3. FORGE Canada Consortium: Outcomes of a 2-year national rare-disease gene-discovery project;Beaulieu;Am J Hum Genet,2014

4. Rare-disease genetics in the era of next-generation sequencing: Discovery to translation;Boycott;Nat Rev Genet,2013

5. Whole exome sequencing in females with autism implicates novel and candidate genes;Butler;Int J Mol Sci,2015

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