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A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LELM, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ. Yamamoto S, et al. Among authors: bellen hj. Cell. 2014 Sep 25;159(1):200-214. doi: 10.1016/j.cell.2014.09.002. Cell. 2014. PMID: 25259927 Free PMC article.
Fruit flies in biomedical research.
Wangler MF, Yamamoto S, Bellen HJ. Wangler MF, et al. Among authors: bellen hj. Genetics. 2015 Mar;199(3):639-53. doi: 10.1534/genetics.114.171785. Epub 2015 Jan 26. Genetics. 2015. PMID: 25624315 Free PMC article.
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG; Undiagnosed Diseases Network; Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV. Chao HT, et al. Among authors: bellen hj. Am J Hum Genet. 2017 Jan 5;100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. Epub 2016 Dec 22. Am J Hum Genet. 2017. PMID: 28017372 Free PMC article.
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.
Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J; Members of the Undiagnosed Diseases Network (UDN); Hieter P, Boycott KM, Campeau PM, Bellen HJ. Wangler MF, et al. Among authors: bellen hj. Genetics. 2017 Sep;207(1):9-27. doi: 10.1534/genetics.117.203067. Genetics. 2017. PMID: 28874452 Free PMC article. Review.
396 results