Lin Y, Zeng C, Chen X, Li T, Liu H, Liu H, Hu H#, Liu L#. Chinese family with Blau syndrome: Mutated NOD2 allele transmitted from the father with de novo somatic and germ line mosaicism. J Dermatol. 2020 Nov;47(11):e395. doi: 10.1111/1346-8138.15563. Epub 2020 Sep 2. PMID: 32881073.
Mehvari S, Larti F, Hu H, Fattahi Z, Beheshtian M, Abedini SS, Arzhangi S, Ropers HH, Kalscheuer VM, Auld D, Kahrizi K, Riazalhosseini Y, Najmabadi H. Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability. Mol Genet Genomic Med. 2020 Oct;8(10):e1418. doi: 10.1002/mgg3.1418. Epub 2020 Jul 26. PMID: 32715656.
Su X, Feng Y, Rahman SA, Wu S, Li G, Rüschendorf F, Zhao L, Cui H, Liang J, Fang L, Hu H, Froehler S, Yu Y, Patone G, Hummel O, Chen Q, Raile K, Luft FC, Bähring S, Hussain K, Chen W, Zhang J, Gong M. Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation. J Genet Genomics. 2020 Oct 20;47(10):618-626. doi: 10.1016/j.jgg.2020.07.008. Epub 2020 Oct 28. PMID: 33358777.
Chen XD, Lin YT, Jiang MY, Li XZ, Li D, Hu H#, Liu L#. Novel mutations in a Chinese family with two patients with succinic semialdehyde dehydrogenase deficiency. Gynecol Endocrinol. 2020 Oct;36(10):929-933. doi: 10.1080/09513590.2020.1744555. Epub 2020 Mar 30. PMID: 32223457.
Sun C*, Zhou P*, Yuan S*, Guo R, Zhang Z, Xu Q, Han D, He L, Tang H, Xu K, Hu H, Li N#. Generation of an induced pluripotent stem cell line SYSUi-004-A from a child of microcephaly with TYW1 mutations. Stem Cell Res. 2020 May;45:101783. doi: 10.1016/j.scr.2020.101783. Epub 2020 Apr 7. PMID: 32279010.
Sahu A, Li N, Dunkel I, Chung HR. EPIGENE: genome-wide transcription unit annotation using a multivariate probabilistic model of histone modifications. Epigenetics Chromatin. 2020 Apr 7;13(1):20. doi: 10.1186/s13072-020-00341-z. PMID: 32264931.
Sun C*, Yang M*, Qin F*, Guo R, Liang S, Hu H#. Generation of an induced pluripotent stem cell line SYSUi-003-A from a child with epilepsy carrying GRIN2A mutation. Stem Cell Res. 2020 Mar;43:101706. doi: 10.1016/j.scr.2020.101706. Epub 2020 Jan 15. PMID: 32036246.
von der Hagen M, Becker LL, Wienker TF, Smitka M, Musante L, Ropers HH, Huebner A, Hu H#, Kaindl AM#. Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders. Neuropediatrics. 2020 Feb;51(1):72-75. doi: 10.1055/s-0039-1695787. Epub 2019 Oct 18. PMID: 31627234.
Extramural funds
National Natural Science Foundation of China (No.82001121), 2021.1-2023.12, ￥240,000
National Natural Science Foundation of China (No.81974163), 2020.1-2023.12, ￥600,000
China Postdoctoral Science Foundation (No.2019M662852), 2019.9-2021.9, ￥80,000
Outstanding Scientists Foundation of Guangzhou China, 2019.1-2023.12, ￥1,250,000
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
Guangzhou Science and Technology Program (No.201704020209), 2017.5-2020.4, ￥1,000,000
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
