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.
Extramural funds
Natural Science Foundation of Guangdong Province of China (No.2018A030313538), 2018.5-2021.4, ￥100,000
National Natural Science Foundation of China (No.81701451), 2018.1-2021.12, ￥200,000
National Natural Science Foundation of China (No.81671067), 2017.1-2021.12, ￥610,000
National Natural Science Foundation of China (No.81672253), 2017.1-2021.12, ￥570,000
Major Medical Collaboration and Innovation Program of Guangzhou Science Technology and Innovation Commission
(No.201604020020), 2015.10-2018.09, ￥4,500,000
