Center-Authored Papers

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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
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, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T et al..  2015.  The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.. American journal of human genetics. Abstract
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Mackelprang RD, Bigham AW, Celum C, de Bruyn G, Beima-Sofie K, John-Stewart G, Ronald A, Mugo NR, Buckingham KJ, Bamshad MJ et al..  2014.  Toll-like Receptor Polymorphism Associations With HIV-1 Outcomes Among Sub-Saharan Africans.. The Journal of infectious diseases. 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
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Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JTS, Monteiro FP et al..  2015.  Expanding the Molecular and Clinical Phenotype of SSR4-CDG.. Human mutation. Abstract