Center-Authored Papers

Filters: Author is Shively, Kathryn M  [Clear All Filters]
Journal Article
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M et al..  2015.  Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.. American journal of human genetics. 96(5):841-9. Abstract
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN et al..  2015.  De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.. American journal of human genetics. 96(3):462-73. Abstract
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HIS, Aracena MI, Aylsworth AS, Bitoun P, Carey JC et al..  2014.  Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5.. American journal of human genetics. Abstract