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Page 1
Mutation discovery in mice by whole exome sequencing.
Fairfield H, Gilbert GJ, Barter M, Corrigan RR, Curtain M, Ding Y, D'Ascenzo M, Gerhardt DJ, He C, Huang W, Richmond T, Rowe L, Probst FJ, Bergstrom DE, Murray SA, Bult C, Richardson J, Kile BT, Gut I, Hager J, Sigurdsson S, Mauceli E, Di Palma F, Lindblad-Toh K, Cunningham ML, Cox TC, Justice MJ, Spector MS, Lowe SW, Albert T, Donahue LR, Jeddeloh J, Shendure J, Reinholdt LG. Fairfield H, et al. Among authors: cunningham ml. Genome Biol. 2011 Sep 14;12(9):R86. doi: 10.1186/gb-2011-12-9-r86. Genome Biol. 2011. PMID: 21917142 Free PMC article.
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T. Vissers LE, et al. Among authors: cunningham ml. PLoS Genet. 2011 Sep;7(9):e1002278. doi: 10.1371/journal.pgen.1002278. Epub 2011 Sep 8. PLoS Genet. 2011. PMID: 21931569 Free PMC article.
Microtia: epidemiology and genetics.
Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC. Luquetti DV, et al. Among authors: cunningham ml. Am J Med Genet A. 2012 Jan;158A(1):124-39. doi: 10.1002/ajmg.a.34352. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106030 Free PMC article. Review.
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML. Rieder MJ, et al. Among authors: cunningham ml. Am J Hum Genet. 2012 May 4;90(5):907-14. doi: 10.1016/j.ajhg.2012.04.002. Am J Hum Genet. 2012. PMID: 22560091 Free PMC article.
Preferential associated anomalies in 818 cases of microtia in South America.
Luquetti DV, Cox TC, Lopez-Camelo J, Dutra Mda G, Cunningham ML, Castilla EE. Luquetti DV, et al. Among authors: cunningham ml. Am J Med Genet A. 2013 May;161A(5):1051-7. doi: 10.1002/ajmg.a.35888. Epub 2013 Mar 29. Am J Med Genet A. 2013. PMID: 23554119 Free PMC article.
320 results