Hilary Racher

Hilary Racher

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Hilary Racher

Hilary Racher

Publications by authors named "Hilary Racher"

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11Publications

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Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

J Natl Cancer Inst 2018 12;110(12):1328-1341

QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.

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http://dx.doi.org/10.1093/jnci/djy171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292796PMC
December 2018

A novel deep intronic low penetrance RB1 variant in a retinoblastoma family.

Ophthalmic Genet 2018 04 3;39(2):288-290. Epub 2017 Nov 3.

a The Department of Ophthalmology and Vision Sciences , Hospital for Sick Children, University of Toronto , Toronto , Ontario , Canada.

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http://dx.doi.org/10.1080/13816810.2017.1393828DOI Listing
April 2018

Genetics and Molecular Diagnostics in Retinoblastoma--An Update.

Asia Pac J Ophthalmol (Phila) 2017 Mar-Apr;6(2):197-207

Department of Ophthalmology and Vision Sciences, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.22608/APO.201711DOI Listing
September 2017

Molecular analysis distinguishes metastatic disease from second cancers in patients with retinoblastoma.

Cancer Genet 2016 Jul-Aug;209(7-8):359-63. Epub 2016 Jun 3.

Eugene and Marilyn Glick Eye Institute, Indiana University School of Medicine, Indianapolis, IN 46202, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2016.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970893PMC
May 2017

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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http://www.nature.com/articles/ncb3201
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http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 2015

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

Am J Med Genet A 2014 Mar 19;164A(3):676-84. Epub 2013 Dec 19.

Department of Medical Genetics, Alberta Children's Hospital, University of Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36340DOI Listing
March 2014

PUF-8, a Pumilio homolog, inhibits the proliferative fate in the Caenorhabditis elegans germline.

G3 (Bethesda) 2012 Oct 1;2(10):1197-205. Epub 2012 Oct 1.

Department of Biological Sciences, University of Calgary, Calgary, Alberta, Canada, T2N 1N4.

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http://dx.doi.org/10.1534/g3.112.003350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464112PMC
October 2012

Translational control in the C. elegans hermaphrodite germ line.

Genome 2010 Feb;53(2):83-102

University of Calgary, 2500 University Drive, Department of Biological Sciences, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1139/g09-090DOI Listing
February 2010