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Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.
Austin ED, Ma L, LeDuc C, Berman Rosenzweig E, Borczuk A, Phillips JA 3rd, Palomero T, Sumazin P, Kim HR, Talati MH, West J, Loyd JE, Chung WK. Austin ED, et al. Among authors: leduc c. Circ Cardiovasc Genet. 2012 Jun;5(3):336-43. doi: 10.1161/CIRCGENETICS.111.961888. Epub 2012 Apr 2. Circ Cardiovasc Genet. 2012. PMID: 22474227 Free PMC article.
Functional consequences of the human leptin receptor (LEPR) Q223R transversion.
Stratigopoulos G, LeDuc CA, Matsuoka N, Gutman R, Rausch R, Robertson SA, Myers MG Jr, Chung WK, Chua SC Jr, Leibel RL. Stratigopoulos G, et al. Among authors: leduc ca. Obesity (Silver Spring). 2009 Jan;17(1):126-35. doi: 10.1038/oby.2008.489. Epub 2008 Nov 6. Obesity (Silver Spring). 2009. PMID: 18997673 Free PMC article.
De novo copy number variants are associated with congenital diaphragmatic hernia.
Yu L, Wynn J, Ma L, Guha S, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, LeDuc CA, Costa K, Stolar C, Aspelund G, Arkovitz MS, Chung WK. Yu L, et al. Among authors: leduc ca. J Med Genet. 2012 Oct;49(10):650-9. doi: 10.1136/jmedgenet-2012-101135. J Med Genet. 2012. PMID: 23054247 Free PMC article.
A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, Berghuis AM, Emil S, Gibbs RA, Burk DL, Vanstone M, Lee BH, Orchard D, Boycott KM, Chung WK, Jabado N. Cheung YH, et al. Am J Hum Genet. 2013 Jun 6;92(6):996-1000. doi: 10.1016/j.ajhg.2013.04.026. Epub 2013 May 23. Am J Hum Genet. 2013. PMID: 23731537 Free PMC article.
320 results