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| 1 | Newborn screening with targeted sequencing:a multicenter investigation and a pilot clinical study in China显示文摘Different newborn screening(NBS) programs have been practiced in many countries since the 1960 s. It is of considerable interest whether next-generation sequencing is applicable in NBS. We have developed a panel of 465 causative genes for 596 early-onset, relatively high incidence, and potentially actionable severe inherited diseases in our Newborn Screening with Targeted Sequencing(NESTS) program to screen 11,484 babies in 8 Women and Children’s hospitals nationwide in China retrospectively. The positive rate from preliminary screening of NESTS was 7.85%(902/11,484). With 45.89%(414/902) follow-up of preliminary positive cases, the overall clinically confirmative diagnosis rate of monogenic disorders was 12.07%(50/414), estimating an average of 0.95%(7.85% × 12.07%) clinical diagnosis rate, suggesting that monogenic disorders account for a considerable proportion of birth defects. The disease/gene spectrum varied in different regions of China. NESTS was implemented in a hospital by screening 3923 newborns to evaluate its clinical application. The turn-around time of a primary report, including the sequencing period of < 7 days, was within 11 days by our automatic interpretation pipeline. Our results suggest that NESTS is feasible and cost-effective as a first-tier NBS program, which will change the status of current clinical practice of NBS in China. | Chanjuan Hao Ruolan Guo Xuyun Hu Zhan Qi Qi Guo Xuanshi Liu Yuanhu Liu Yanhua Sun Xiaofen Zhang Feng Jin Xiujie Wu Ren Cai Dingyuan Zeng Xijiang Hu Xiaohua Wang Xiaoping Ji Wenjie Li Quansheng Xing Lanfang Mu Xiulian Jiang Xue Yang Weimin Yang Yan Zhang Qianli Yin Xin Ni Wei Li | 2022 | Journal of Genetics and Genomics2022，49，1： | 7 |
| 2 | Whole-exome sequencing reveals twovariants in thegene in two Chinese patients with left ventricular non-compaction cardiomyopathy显示文摘Importance:Pathogenic variants in theRBM20 gene are associated with aggressive dilated cardiomyopathy(DCM).Recently,RBM20 was found to be associated with left ventricular non-compaction cardiomyopathy(LVNC).Thus far,only five families with LVNC have been reported to carry variants inRBM20.It remains unknown whether the variants inRBM20 associated with DCM can also cause LVNC.Objective:To elucidate the causativeRBM20 variant in two unrelated patients with both LVNC and DCM,and to identify the clinical characteristics associated with variants inRBM20.Methods:Trio whole-exome sequencing(WES)was performed.Variants were filtered and classified in accordance with the guidelines of the American College of Medical Genetics and Genomics(ACMG).Results:We identified two distinctde novo variants inRBM20(one per patient)in these two patients with LVNC.Both variants have been reported in patients with DCM,without the LVNC phenotype.Patient 1 was an 11-year-old girl who had DCM,LVNC,and heart failure;the ratio of noncompacted-to-compacted myocardium was 2.7:1.Ade novo heterozygous variant c.1907G>A(p.Arg636His)in exon 9 was identified in this patient.Patient 2 was a 13-year-old boy who had clinical phenotypes identical to those of Patient 1;the ratio of noncompacted-to-compacted myocardium was 3.2:1 in this patient.WES revealed ade novo heterozygous variant c.1909A>G(p.Ser637Gly)in exon 9.Both variants were previously characterized as pathogenic,and our study classified them as pathogenic variants based on the ACMG guidelines.Interpretation:We found that two patients with LVNC had variants inRBM20.Our results extended the clinical spectrum of the twoRBM20 variants and illustrated that the same variant inRBM20 can cause DCM,with or without the LVNC phenotype. | Qiqing Sun Jun Guo Chanjuan Hao Ruolan Guo Xuyun Hu Yuanying Chen Weili Yang Wei Li Yingjun Feng | 2020 | Pediatric Investigation2020，4，1： | 2 |
| 3 | Promoting hybrid twins structure to reduce yield asymmetry of rolled AZ31 plates by combining side-rolling and torsion显示文摘In this work,an as-rolled AZ31 square bar with c-axis//ND(normal direction)texture was used.Side-rolling and reciprocating torsion were performed to treat the bar.Microstructure evolution and tensile-compressive properties were investigated in detail.Initial rolled AZ31 bar exhibits a large yield asymmetry along the rolling direction(RD).Reciprocating torsion can generate extension twins to introduce twin boundaries and twin-texture.The twin structure can reduce yield asymmetry.However,only limited regions in the rolled AZ31 bar can be twinned during torsion.Pre-side-rolling along the transverse direction(TD)can generate two texture components(c-axis//TD texture and c-axis//ND texture)by introducing profuse{10–12}twins.Such dual texture components help increase the regions which are favorable for twinning during torsion.Finally,combining side-rolling and reciprocating torsion generates hybrid{10–12}twins structure on the entire cross-section,resulting in a remarkably low yield asymmetry.The relevant mechanisms were discussed in detail. | Bo Song Meng Wang Ruolan Shi Zhiwen Du Ning Guo Fang Wang Shengfeng Guo | 2023 | Journal of Magnesium and Alloys2023，11，6： | 1 |
| 4 | Noninvasive prenatal testing for Wilson disease by use of circulating single - molecule amplification and resequencing technology (cSMART)显示文摘 | LV Weigang WEI Xianda GUO Ruolan | 2015 | Clinical Chemistry2015，61，1： | 1 |
| 5 | Severe cases of BCGosis-susceptible primary immunodeficiency diseases identified by next-generation sequencing:Implications for adjustment of BCG vaccination timing in China显示文摘The World Health Organization(WHO)recommends neonatal Bacillus Calmette-Guerin(BCG)vaccination in countries with a high prevalence of tuberculosis(TB),which has been practiced in more than 150 countries(WHO,2004).The prevalence of TB is a serious condition in China,ranking as the second in the high epidemic countries globally(WHO,2018).China initiated a neonatal BCG vaccination program in 1986 and reached an average vaccination rate of 99%in 2016 with a great success in preventing the incidence of TB(WHO,2018). | Gang Liu Haijuan Xiao Linlin Liu Lingyun Guo Ruolan Guo Xuyun Hu Chanjuan Hao Jingang Gui Weiwei Jiao Fang Xu Adong Shen Wei Li | 2020 | Journal of Genetics and Genomics2020，47，4： | 0 |
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