Publications by authors named "Kathryn M Shively"

10Publications

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

Am J Hum Genet 2020 08 23;107(2):293-310. Epub 2020 Jul 23.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413889PMC
August 2020

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Am J Hum Genet 2015 May;96(5):841-9

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570285PMC
May 2015

Genotype-phenotype relationships in Freeman-Sheldon syndrome.

Am J Med Genet A 2014 Nov 25;164A(11):2808-13. Epub 2014 Sep 25.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington; Seattle Children's Hospital, Seattle, Washington.

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http://doi.wiley.com/10.1002/ajmg.a.36762
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36762DOI Listing
November 2014

Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats.

Mamm Genome 2013 Oct 15;24(9-10):400-8. Epub 2013 Aug 15.

Department of Pediatrics, University of Washington School of Medicine, 1959 NE Pacific Street, HSB RR349, Box 356320, Seattle, WA, 98195, USA,

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http://dx.doi.org/10.1007/s00335-013-9471-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848309PMC
October 2013

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.

Am J Med Genet A 2013 Mar 7;161A(3):550-5. Epub 2013 Feb 7.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35809
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http://dx.doi.org/10.1002/ajmg.a.35809DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581718PMC
March 2013