文章

2017

Abbasi AA, Blaesius K, Hu H, Latif Z, Picker-Minh S, Khan MN, Farooq S, Khan MA, Kaindl AM. Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly. Am J Med Genet B Neuropsychiatr Genet. 2017 Dec;174(8):839-845. doi: 10.1002/ajmg.b.32602. Epub 2017 Oct 14. PMID: 29031008.
Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium; Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236. PMID: 29053855.
Shao Y, Jiang M, Lin Y, Mei H, Zhang W, Cai Y, Su X, Hu H, Li X, Liu L. Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency. Clin Genet. 2017 Sep;92(3):318-322. doi: 10.1111/cge.13004. Epub 2017 Mar 30. PMID: 28266016.
Musante L, Püttmann L, Kahrizi K, Garshasbi M, Hu H, Stehr H, Lipkowitz B, Otto S, Jensen LR, Tzschach A, Jamali P, Wienker T, Najmabadi H, Ropers HH, Kuss AW. Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Hum Mutat. 2017 Jun;38(6):621-636. doi: 10.1002/humu.23205. Epub 2017 Mar 23. PMID: 28236339.
Jiang M, Liu S, Jiang H, Lin Y, Shao Y, Hu H, Zhao X, Liu H, Huang Y, Liu L. Brain abnormalities in fucosidosis: transplantation or supportive therapy? Metab Brain Dis. 2017 Apr;32(2):317-320. doi: 10.1007/s11011-017-9968-5. Epub 2017 Feb 25. PMID: 28238202.
Doe J, Kaindl AM, Jijiwa M, de la Vega M, Hu H, Griffiths GS, Fontelonga TM, Barraza P, Cruz V, Van Ry P, Ramos JW, Burkin DJ, Matter ML. PTRH2 gene mutation causes progressive congenital skeletal muscle pathology. Hum Mol Genet. 2017 Apr 15;26(8):1458-1464. doi: 10.1093/hmg/ddx048. PMID: 28175314.
Ravindran E*, Hu H*, Yuzwa SA, Hernandez-Miranda LR, Kraemer N, Ninnemann O, Musante L, Boltshauser E, Schindler D, Hübner A, Reinecker HC, Ropers HH, Birchmeier C, Miller FD, Wienker TF, Hübner C, Kaindl AM. Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. PLoS Genet. 2017 Apr 28;13(4):e1006746. doi: 10.1371/journal.pgen.1006746. PMID: 28453519.
Zhang W, Zhou Z, Li X, Huang Y, Li T, Lin Y, Shao Y, Hu H, Liu H, Liu L. Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis. Neurosci Lett. 2017 Mar 22;644:48-54. doi: 10.1016/j.neulet.2017.01.019. Epub 2017 Jan 10. PMID: 28087438.
Hu H, Hübner C, Lukacs Z, Musante L, Gill E, Wienker TF, Ropers HH, Knierim E, Schuelke M. Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). Eur J Hum Genet. 2017 Feb;25(2):253-256. doi: 10.1038/ejhg.2016.149. Epub 2016 Nov 9. PMID: 27827379.

基金

广东省自然科学基金项目:α6螺旋的解折叠对α6和spacer结合的影响及其分子机制(批准号:2018A030313538)。2018/05-2021/04,10万元,主持人:方翔。
国家自然科学基金青年项目:采用单细胞RNA测序技术研究卵裂球表达谱与植入前胚胎质量评估的分子机理(批准号:81701451)。2018/01-2020/12,20万元,主持人:李娜。
国家自然科学基金面上项目:ARHGEF2基因缺陷引起小头畸形、中后脑发育异常和智力低下的致病机制研究(批准号:81671067)。2017/01-2020/12,61万元,主持人:胡昊。
国家自然科学基金面上项目:基于Nogo-A/RhoA/ROCK通路研究强制性运动精准治疗偏瘫型脑瘫的作用与机制(批准号:81672253)。2017/01-2020/12,57万元,主要参与人:胡昊。
广州市健康医疗协同创新重大专项三期计划项目:儿童遗传性智力低下与神经退行性疾病精准诊治规范的研究(批准号:201510192218459)。2016/01-2018/12,450万元,主持人:胡昊。

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