Publication

2019

Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Mol Psychiatry. 2019 Nov;24(11):1748-1768. doi: 10.1038/s41380-018-0065-x. Epub 2018 May 4. PMID: 29728705.
Sun L*, Fang X*, Chen Z, Zhang H, Zhang Z, Zhou P, Xue T, Peng X, Zhu Q, Yin M, Liu C, Deng Y, Hu H, Li N#. Compound heterozygous ZP1 mutations cause empty follicle syndrome in infertile sisters. Hum Mutat. 2019 Nov;40(11):2001-2006. doi: 10.1002/humu.23864. Epub 2019 Jul 29. PMID: 31292994.
Ramisch A, Heinrich V, Glaser LV, Fuchs A, Yang X, Benner P, Schöpflin R, Li N, Kinkley S, Römer-Hillmann A, Longinotto J, Heyne S, Czepukojc B, Kessler SM, Kiemer AK, Cadenas C, Arrigoni L, Gasparoni N, Manke T, Pap T, Pospisilik JA, Hengstler J, Walter J, Meijsing SH, Chung HR, Vingron M. CRUP: a comprehensive framework to predict condition-specific regulatory units. Genome Biol. 2019 Nov 8;20(1):227. doi: 10.1186/s13059-019-1860-7. PMID: 31699133.
Fang X*, Huang LL*, Xu J, Ma CQ, Chen ZH, Zhang Z, Liao CH, Zheng SX, Huang P, Xu WM, Li N#, Sun L#. Proteomics and single-cell RNA analysis of Akap4-knockout mice model confirm indispensable role of Akap4 in spermatogenesis. Dev Biol. 2019 Oct 15;454(2):118-127. doi: 10.1016/j.ydbio.2019.06.017. Epub 2019 Jun 28. PMID: 31255637.
Hu H*, Kahrizi K*, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S, Jamali P, Mojahedi F, Taghdiri M, Papari E, Soltani Banavandi MJ, Akbari S, Tonekaboni SH, Dehghani H, Ebrahimpour MR, Bader I, Davarnia B, Cohen M, Khodaei H, Albrecht B, Azimi S, Zirn B, Bastami M, Wieczorek D, Bahrami G, Keleman K, Vahid LN, Tzschach A, Gärtner J, Gillessen-Kaesbach G, Varaghchi JR, Timmermann B, Pourfatemi F, Jankhah A, Chen W, Nikuei P, Kalscheuer VM, Oladnabi M, Wienker TF, Ropers HH#, Najmabadi H#. Genetics of intellectual disability in consanguineous families. Mol Psychiatry. 2019 Jul;24(7):1027-1039. doi: 10.1038/s41380-017-0012-2. Epub 2018 Jan 4. PMID: 29302074.
Hosseini M, Fattahi Z, Abedini SS, Hu H, Ropers HH, Kalscheuer VM, Najmabadi H, Kahrizi K. GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Am J Med Genet A. 2019 Jan;179(1):13-19. doi: 10.1002/ajmg.a.40531. Epub 2018 Dec 14. PMID: 30549416.
Kahrizi K*, Hu H*, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, Suckow V, Mohseni M, Lipkowitz B, Mehvari S, Mehrjoo Z, Akhtarkhavari T, Ghaderi Z, Rahimi M, Arzhangi S, Jamali P, Falahat Chian M, Nikuei P, Sabbagh Kermani F, Sadeghinia F, Jazayeri R, Tonekaboni SH, Khoshaeen A, Habibi H, Pourfatemi F, Mojahedi F, Khodaie-Ardakani MR, Najafipour R, Wienker TF, Najmabadi H#, Ropers HH#. Effect of inbreeding on intellectual disability revisited by trio sequencing. Clin Genet. 2019 Jan;95(1):151-159. doi: 10.1111/cge.13463. Epub 2018 Nov 19. PMID: 30315573.

Extramural funds

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
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

Publication Year