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Clinical and molecular spectrum of CHOPS syndrome.
Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K. Raible SE, et al. Among authors: guo y. Am J Med Genet A. 2019 Jul;179(7):1126-1138. doi: 10.1002/ajmg.a.61174. Epub 2019 May 6. Am J Med Genet A. 2019. PMID: 31058441 Free PMC article.
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. Gil-Rodríguez MC, et al. Among authors: guo y. Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25655089 Free article.
Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
Guo Y, Prokudin I, Yu C, Liang J, Xie Y, Flaherty M, Tian L, Crofts S, Wang F, Snyder J, Donaldson C, Abdel-Magid N, Vazquez L, Keating B, Hakonarson H, Wang J, Jamieson RV. Guo Y, et al. Ophthalmic Genet. 2015;36(4):333-8. doi: 10.3109/13816810.2014.886269. Epub 2014 Feb 19. Ophthalmic Genet. 2015. PMID: 24547928
Genetic study of indirect inguinal hernia.
Gong Y, Shao C, Sun Q, Chen B, Jiang Y, Guo C, Wei J, Guo Y. Gong Y, et al. Among authors: guo c, guo y. J Med Genet. 1994 Mar;31(3):187-92. doi: 10.1136/jmg.31.3.187. J Med Genet. 1994. PMID: 8014965 Free PMC article.
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Menezes MJ, Guo Y, Zhang J, Riley LG, Cooper ST, Thorburn DR, Li J, Dong D, Li Z, Glessner J, Davis RL, Sue CM, Alexander SI, Arbuckle S, Kirwan P, Keating BJ, Xu X, Hakonarson H, Christodoulou J. Menezes MJ, et al. Among authors: guo y. Hum Mol Genet. 2015 Apr 15;24(8):2297-307. doi: 10.1093/hmg/ddu747. Epub 2015 Jan 2. Hum Mol Genet. 2015. PMID: 25556185
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.
Matera I, Rusmini M, Guo Y, Lerone M, Li J, Zhang J, Di Duca M, Nozza P, Mosconi M, Pini Prato A, Martucciello G, Barabino A, Morandi F, De Giorgio R, Stanghellini V, Ravazzolo R, Devoto M, Hakonarson H, Ceccherini I. Matera I, et al. Among authors: guo y. Eur J Hum Genet. 2016 Aug;24(8):1211-5. doi: 10.1038/ejhg.2015.275. Epub 2016 Jan 27. Eur J Hum Genet. 2016. PMID: 26813947 Free PMC article.
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