Publications by authors named "Alison Eaton"

8Publications

Genetic mechanisms of neurodevelopmental disorders.

Handb Clin Neurol 2020 ;173:307-326

Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-64150-2.00024-1DOI Listing
January 2020

When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.

Clin Genet 2020 06 30;97(6):835-843. Epub 2020 Mar 30.

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

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http://dx.doi.org/10.1111/cge.13736DOI Listing
June 2020

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.

Eur J Med Genet 2020 Feb 27;63(2):103655. Epub 2019 Apr 27.

Department of Medical Genetics, University of Pécs, Clinical Center, Medical School, Pécs, Hungary; Szentágothai Research Centre, University of Pécs, Pécs, Hungary.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183073
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http://dx.doi.org/10.1016/j.ejmg.2019.04.012DOI Listing
February 2020

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.

Am J Med Genet C Semin Med Genet 2018 12;178(4):458-463

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

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http://doi.wiley.com/10.1002/ajmg.c.31662
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http://dx.doi.org/10.1002/ajmg.c.31662DOI Listing
December 2018

Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.

Am J Med Genet A 2018 11 23;176(11):2487-2493. Epub 2018 Sep 23.

Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta.

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http://dx.doi.org/10.1002/ajmg.a.40516DOI Listing
November 2018

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018