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| 1 | Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia显示文摘Schizophrenia is a common disorder with a high heritability, but its genetic architecture is still elusive.We implemented whole-genome sequencing(WGS) analysis of 8 families with monozygotic(MZ) twin pairs discordant for schizophrenia to assess potential association of de novo mutations(DNMs) or inherited variants with susceptibility to schizophrenia. Eight non-synonymous DNMs(including one splicing site) were identified and shared by twins, which were either located in previously reported schizophrenia risk genes(p.V24689 I mutation in TTN, p.S2506 T mutation in GCN1L1, IVS3+1G > T in DOCK1) or had a benign to damaging effect according to in silico prediction analysis. By searching the inherited rare damaging or loss-of-function(LOF) variants and common susceptible alleles from three classes of schizophrenia candidate genes, we were able to distill genetic alterations in several schizophrenia risk genes, including GAD1, PLXNA2, RELN and FEZ1. Four inherited copy number variations(CNVs; including a large deletion at 16p13.11) implicated for schizophrenia were identified in four families, respectively. Most of families carried both missense DNMs and inherited risk variants, which might suggest that DNMs, inherited rare damaging variants and common risk alleles together conferred to schizophrenia susceptibility. Our results support that schizophrenia is caused by a combination of multiple genetic factors, with each DNM/variant showing a relatively small effect size. | Jinsong Tang Yu Fan Hong Li Qun Xiang Deng-Feng Zhang Zongchang Li Ying He Yanhui Liao Ya Wang Fan He Fengyu Zhang Yin Yao Shugart Chunyu Liu Yanqing Tang Raymond C.K.Chan Chuan-Yue Wang Yong-Gang Yao Xiaogang Chen | 2017 | Journal of Genetics and Genomics2017，44，6： | 4 |
| 2 | Forest succession models显示文摘 | WEST D C | 1980 | Bioscience1980，30，： | 1 |
| 3 | Landscape ecology: Ahierarchical perspective can help scientists understand spatial patterns显示文摘 | Urban D L O'Neill R V Shugart H H | 1987 | BioScience1987，37，： | 1 |
| 4 | Quantitation of chemically induced damage to DNA of aquatic organisms by alkaline unwinding assay显示文摘 | Shugart L R | 1988 | Aquatic Toxicol1988，13，1： | 1 |
| 5 | Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p显示文摘 | Shugart Y Banerjee P | 1994 | Hum Mol Genet1994，3，： | 1 |
| 6 | Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome4显示文摘 | Feng B J Huang W Shugart Y Y | 2002 | Nat Genet2002，31，4： | 1 |
| 7 | Environmental Factors and Ecological Processes in Boreal Forests显示文摘 | G B Bonan H H Shugart | 1989 | Annual Review of Ecology and Systematics1989，，： | 1 |
| 8 | Development of an Appalachian deciduous forest succession model and its application to assessment of the impact of the chestnut blight 显示文摘 | Shugart H H West D C | 1977 | Journal of Environment and Management1977，5，1： | 1 |
| 9 | Surface Lidar Remote Sensing of Basal Area and Biomass in Deciduous Forests of Eastern Maryland, USA显示文摘 | Michael A Lefsky D Harding W.B Cohen G Parker H.H Shugart | 1998 | Remote Sensing of Environment1998，，1： | 1 |
| 10 | Sensitivity of terrestrial carbon storage to CO2-induced climate change comparison of four senarios based on general circulation models显示文摘 | Lecmans R Shugart H H | 1992 | Climatic Change1992，21，： | 1 |
| 11 | Comprehensive pathway-based association study of DNA repair gene variants and the risk of nasopharyngeal carcinoma显示文摘 | Qin HD Shugart YY Bei JX | 2011 | Cancer Res2011，71，8： | 1 |
| 12 | A review of forest path mOdels and their application to global change research 显示文摘 | Shugart H H Smith T M | 1996 | Climatic Change1996，34，1： | 1 |
| 13 | Tree death as an ecological process显示文摘 | Franklin JF Shugart HH Harmon ME | | 0，，： | 1 |
| 14 | The Advantage of Long-Distance Clonal Spreading in Highly Disturbed Habitats显示文摘 | FAHRIG L COFFIN D P LAUENROTH W K SHUGART H H | 1994 | Evolutionary Ecology1994，8，： | 1 |
| 15 | Comparison of perioperative parameters and complications observed in the anterior ex- posure of the lumbar spine by a spine surgeon with and without the as- sistance of an access surgeon 显示文摘 | Micah W Smith Kevin A Rahn Robert M Shugart | 2011 | The Spine Journal2011，11，5： | 1 |
| 16 | Genetic and Molecular Toxicology:A research Framework显示文摘 | Anderson S Sadinski W Shugart | 1994 | Environ Hlth Pe rspec1994，10，2： | 1 |
| 17 | Niche theory and community organization显示文摘 | Shugart H H Bonan G B | 1998 | Canadian Journal of Botany1998，66，12： | 1 |
| 18 | Initial stages of Zr B2-30vol%Si C oxidation at 1500℃显示文摘 | Shugart K W Jennings Opila E | 2014 | Journal of the American Ceramic Society2014，，： | 1 |
| 19 | Climatic change and broad Scale Distribution of terrestrial ecosystem complexs显示文摘 | Emanuel W B H H Shugart M P Stevenson | 1985 | Climatic change1985，，7： | 1 |
| 20 | Climatic change and the broad-scale distribution of terrestrial ecosystem complexes显示文摘 | William R. Emanuel Herman H. Shugart Mary P. Stevenson | 1985 | Climatic Change1985，，1： | 1 |
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