1、Zhang H*, Li J, Zhang X, Wang Y, Qiu W, et al.. Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing. . PLoS ONE,2011;6(8):22951-22952
2、Huiwen Zhang*, Jialin Gao, Jun Ye, Zhuwen Gong, Xuefan Gu.. Maternal Origin of a de novo microdeletion spanning the ERCC6 Gene in a classic form of The Cockayne Syndrome. European Journal of Medical Genetics,2011;54(4):389-93
3、Zhang H*, Liu X, Gu X.. Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease. Brain and Development,2010;12(4):201-204
4、Zhang H*, Mahuran DJ, Callahan JW.. Identification of proteins in the Ceroid-like Autofluorescent Aggregates from liver Lysosomes of Beige, a mouse model for human Chediak-Higashi syndrome. Molecular Genetics and Metabolism,2010;99(4):389-395
5、Gao JL, Gu XF, Zhang H#. SID1 transmembrane family, member 2 (Sidt2): A novel lysosomal membrane protein. . Biochemical and Biophysical Research Communications,2010;402(10):588-594
6、Zhang H*, Wang Y, Han L, Gu X. Shi D.. A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency (CPHD) from two unrelated Chinese pedigrees.. Hormone Research in Pediatrics,2010;74(2):98-105
7、Zhang H*, Ye J, Gu X.. Recurring G12S mutation of HRAS in a Chinese Costello Child with high Alkaline Phosphatase Level. Biochemical genetics,2009;47(6):868-872.
8、Liang, L*, Zhang H, Gu X.. Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance. Acta Pediatrica,2009;98(8):1365-1368.
9、Zhang H*, Fan X, Bagshaw RD, Zhang L, Mahuran DJ, Callahan JW.. Giant lysosome of Beige Mice Contain more Endoplasmic Protein than Normal Mice. Journal of Proteome Research.,2007;6(1):240-249.
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