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283 results

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Page 1
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.
Duan R, Hijazi H, Gulec EY, Eker HK, Costa SR, Sahin Y, Ocak Z, Isikay S, Ozalp O, Bozdogan S, Aslan H, Elcioglu N, Bertola DR, Gezdirici A, Du H, Fatih JM, Grochowski CM, Akay G; Baylor-Hopkins Center for Mendelian Genomics; Jhangiani SN, Karaca E, Gu S, Coban-Akdemir Z, Posey JE, Bayram Y, Sutton VR, Carvalho CMB, Pehlivan D, Gibbs RA, Lupski JR. Duan R, et al. Among authors: sutton vr. HGG Adv. 2022 Aug 4;3(4):100132. doi: 10.1016/j.xhgg.2022.100132. eCollection 2022 Oct 13. HGG Adv. 2022. PMID: 36035248 Free PMC article.
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Cheung SW, et al. Among authors: sutton vr. Am J Med Genet A. 2007 Aug 1;143A(15):1679-86. doi: 10.1002/ajmg.a.31740. Am J Med Genet A. 2007. PMID: 17607705
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR. Liu P, et al. Among authors: sutton vr. Hum Mol Genet. 2011 May 15;20(10):1975-88. doi: 10.1093/hmg/ddr078. Epub 2011 Feb 25. Hum Mol Genet. 2011. PMID: 21355048 Free PMC article.
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. Xia F, et al. Among authors: sutton vr. Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006. Am J Hum Genet. 2014. PMID: 24791903 Free PMC article.
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, Geckinli BB, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR. Yuan B, et al. Among authors: sutton vr. J Clin Invest. 2015 Feb;125(2):636-51. doi: 10.1172/JCI77435. Epub 2015 Jan 9. J Clin Invest. 2015. PMID: 25574841 Free PMC article. Clinical Trial.
283 results