Publications by authors named "Margaret J McMillin"

15Publications

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:

View Article

Download full-text PDF

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

Speech and language in a genotyped cohort of individuals with Kabuki syndrome.

Am J Med Genet A 2015 Jul 8;167(7):1483-92. Epub 2015 Mar 8.

Department of Paediatrics, University of Melbourne, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37026DOI Listing
July 2015

The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.

Hum Mol Genet 2015 Jun 3;24(12):3348-58. Epub 2015 Mar 3.

Department of Bioengineering, Center for Cardiovascular Biology, University of Washington, Seattle, WA 98195, USA and

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4481580PMC
June 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.

View Article

Download full-text PDF

Source
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,

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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