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Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.
Barber JC, Rosenfeld JA, Graham JM, Kramer N, Lachlan KL, Bateman MS, Collinson MN, Stadheim BF, Turner CL, Gauthier JN, Reimschisel TE, Qureshi AM, Dabir TA, Humphreys MW, Marble M, Huang T, Beal SJ, Massiah J, Taylor EJ, Wynn SL. Barber JC, et al. Among authors: huang t. Am J Med Genet A. 2015 Sep;167A(9):2052-64. doi: 10.1002/ajmg.a.37120. Epub 2015 Jun 11. Am J Med Genet A. 2015. PMID: 26097203
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
Grams SE, Argiropoulos B, Lines M, Chakraborty P, Mcgowan-Jordan J, Geraghty MT, Tsang M, Eswara M, Tezcan K, Adams KL, Linck L, Himes P, Kostiner D, Zand DJ, Stalker H, Driscoll DJ, Huang T, Rosenfeld JA, Li X, Chen E. Grams SE, et al. Among authors: huang t. Am J Med Genet A. 2016 Apr;170A(4):967-77. doi: 10.1002/ajmg.a.37519. Epub 2015 Dec 22. Am J Med Genet A. 2016. PMID: 26692240
Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region.
Strehle EM, Yu L, Rosenfeld JA, Donkervoort S, Zhou Y, Chen TJ, Martinez JE, Fan YS, Barbouth D, Zhu H, Vaglio A, Smith R, Stevens CA, Curry CJ, Ladda RL, Fan ZJ, Fox JE, Martin JA, Abdel-Hamid HZ, McCracken EA, McGillivray BC, Masser-Frye D, Huang T. Strehle EM, et al. Among authors: huang t. Am J Med Genet A. 2012 Sep;158A(9):2139-51. doi: 10.1002/ajmg.a.35502. Epub 2012 Jul 27. Am J Med Genet A. 2012. PMID: 22847869
The spectrum of 4q- syndrome illustrated by a case series.
Strehle EM, Gruszfeld D, Schenk D, Mehta SG, Simonic I, Huang T. Strehle EM, et al. Among authors: huang t. Gene. 2012 Sep 15;506(2):387-91. doi: 10.1016/j.gene.2012.06.087. Epub 2012 Jul 3. Gene. 2012. PMID: 22771923
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