Publications by authors named "Scott Topper"

17Publications

Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

JAMA Oncol 2019 01;5(1):120-121

Cancer Genetics and Prevention Program, Helen Diller Comprehensive Cancer Center, University of California San Francisco, San Francisco.

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http://oncology.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaoncol.2018.6911DOI Listing
January 2019

Sources of discordance among germ-line variant classifications in ClinVar.

Genet Med 2017 10 1;19(10):1118-1126. Epub 2017 Jun 1.

Invitae, San Francisco, California, USA.

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http://dx.doi.org/10.1038/gim.2017.60DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5632819PMC
October 2017

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.

Eur J Hum Genet 2016 May 26;24(5):681-9. Epub 2015 Aug 26.

Department of Paediatrics, School of Peadiatrics and Reproductive Health, University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1038/ejhg.2015.176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930085PMC
May 2016

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.

Am J Hum Genet 2015 Apr 26;96(4):675-81. Epub 2015 Mar 26.

Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Center for Genetic Medicine Research, Children's National Health System, Washington, DC 20010, USA; Departments of Integrated Systems Biology and of Pediatrics, George Washington University, Washington, DC 20052, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385183PMC
April 2015

The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.

Brain Dev 2014 Apr 28;36(4):351-5. Epub 2013 May 28.

Department of Human Genetics, University of Chicago, 5841 S. Maryland Ave, MC 0077, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1016/j.braindev.2013.05.001DOI Listing
April 2014

A dynamic model of proteome changes reveals new roles for transcript alteration in yeast.

Mol Syst Biol 2011 Jul 19;7:514. Epub 2011 Jul 19.

Department of Chemistry, University of Wisconsin-Madison, Madison, WI, USA.

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http://dx.doi.org/10.1038/msb.2011.48DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159980PMC
July 2011