Rulai Yang

Most-cited papers

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates
Xin-Wen Huang, Ding-Wen Wu, Lin Zhu, Wenjun Wang +7 more
2022Orphanet Journal of Rare Diseases56 citations Open access
Semantic Scholar
Low temperature difference thermoacoustic prime mover with asymmetric multi-stage loop configuration
T. Jin, Rulai Yang, Yun-Gui Wang, Yi Feng +1 more
2017Scientific Reports52 citations Open access
Semantic Scholar
Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China
Xin-Wen Huang, Lili Yang, F. Tong, Rulai Yang +1 more
2012BMC Pediatrics42 citations Open access
Semantic Scholar
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study
Jun Ye, Yan-Ling Yang, Wei-Min Yu, Hui Zou +4 more
2013Journal of Inherited Metabolic Disease39 citations
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Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy
Yan-Chun Ji, Juan-Juan Zhang, Yuanyuan Lu, Qiuzi Yi +8 more
2020Journal of Biological Chemistry35 citations Open access
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Infant mortality and life expectancy in China
Yanhua Xu, Wei-Fang Zhang, Rulai Yang, Chaochun Zou +1 more
2014Medical Science Monitor33 citations Open access
Semantic Scholar
Development of a three-stage looped thermoacoustic electric generator capable of utilizing heat source below 120 °C
Rulai Yang, Yun-Gui Wang, T. Jin, Yin-Shan Feng +1 more
201832 citations
Semantic Scholar
Effects of perinatal hypothyroidism on rat behavior and its relation with apoptosis of hippocampus neurons
Xin-Wen Huang, H.-M. Yin, Chai Ji, Yu-feng Qin +2 more
2008Journal of Endocrinological Investigation28 citations
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Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China
Ting Chen, Weize Xu, Ding-Wen Wu, Jiamin Han +6 more
2018Scientific Reports21 citations Open access
Semantic Scholar
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up].
F. Hong, Xin-Wen Huang, Yu Zhang, Jian-Bin Yang +6 more
2017Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences21 citations
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Genetic and epigenetic mechanisms in the development of congenital heart diseases
Yue Wu, Xiao-Ming Jin, Yuhao Zhang, Jing Zheng +1 more
2021World Journal of Pediatric Surgery16 citations Open access
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Reference Standards for Newborn Screening of Metabolic Disorders by Tandem Mass Spectrometry: A Nationwide Study on Millions of Chinese Neonatal Populations
Fa-Lin He, Rulai Yang, Xin-Wen Huang, Yaping Tian +15 more
2021Frontiers in Molecular Biosciences13 citations Open access
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Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency
Ting Zhang, Shasha Zhu, H. Miao, Jian-Bin Yang +6 more
2022Frontiers in Molecular Biosciences10 citations Open access
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A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum.
Ting Zhang, Qian Wu, Ling Zhu, Ding-Wen Wu +3 more
2020European Journal of Medical Genetics10 citations
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[Screening for fatty acid oxidation disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].
Jing Zheng, Yu Zhang, F. Hong, Jian-Bin Yang +7 more
2017Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences10 citations
Semantic Scholar
Mortality Rate for Children under 5 Years of Age in Zhejiang Province, China from 1997 to 2012
Wei-Fang Zhang, Ding-Wan Chen, Yanhua Xu, Rulai Yang +1 more
2015PLoS ONE10 citations Open access
Semantic Scholar
[Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].
Xin-Wen Huang, Yu Zhang, F. Hong, Jing Zheng +7 more
2017Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences9 citations
Semantic Scholar
Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis−10 New Cases of Congenital Hypothyroidism and a Literature Review
Rulai Yang, Yijun Lu, Chenxi Yang, Xiaoyu Wu +4 more
2021Frontiers in Genetics8 citations Open access
Semantic Scholar
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China.
Ting Zhang, Yaping Shen, Yanhua Xu, Ding-Wen Wu +2 more
2023Clinica chimica acta; international journal of clinical chemistry6 citations
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Integration of Machine Learning Techniques as Auxiliary Diagnosis of Inherited Metabolic Disorders: Promising Experience with Newborn Screening Data
Bo Lin, Jianwei Yin, Q. Shu, Shui-Guang Deng +4 more
2019International Conference on Collaborative Computing6 citations
Semantic Scholar
FMR1 allele frequencies in 51,000 newborns: a large-scale population study in China
Jin-Yu Zhang, Ding-Wen Wu, Rulai Yang, Lin Zhu +6 more
2021World Journal of Pediatrics4 citations
Semantic Scholar
Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.
Duo Zhou, M. Ye, Zhen-Zhen Hu, Yu Zhang +3 more
2021Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences4 citations Open access
Semantic Scholar
[Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province].
Zhen-Zhen Hu, Jian-Bin Yang, Ling-Wei Hu, Yunfei Zhao +3 more
2020Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences4 citations
Semantic Scholar
Delays in referral, and parents refusing treatment for children with PKU
Lili Yang, Hua-Qing Mao, Rulai Yang
2011Journal of Medical Screening4 citations Open access
Semantic Scholar
Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China
F. Tong, Yuchen Zhang, Chi Chen, Ling Zhu +12 more
2023Frontiers in Cell and Developmental Biology3 citations Open access
Semantic Scholar
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency].
F. Tong, Ting Chen, Pingping Jiang, Rulai Yang +2 more
2019Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics3 citations
Semantic Scholar
[Analysis of UQCRB gene mutation in a child with mitochondrial complex III deficiency].
Ting Zhang, F. Hong, Gu-Ling Qian, F. Tong +4 more
2017Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics3 citations
Semantic Scholar
Neonatal screening for Duchenne muscular dystrophy in eastern China: a closed prospective study
Gu-Ling Qian, Rulai Yang, Xin-Wen Huang, Ding-Wen Wu +2 more
2026Translational Pediatrics2 citations Open access
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Resolving Early Targets and Metabolomic Profile of Congenital Heart Disease Through Tandem Mass Spectrometry Screening in Neonates
Jia-Yu Zhang, Wei Jiang, Die Li, Weijie Jia +4 more
2025Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease2 citations Open access
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A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations
Ting Zhang, Zi-Nan Yu, Ling-Wei Hu, Chao Zhang +5 more
2023Human Mutation2 citations Open access
Semantic Scholar
[Expert consensus for the diagnosis and treatment of glutaricacidemia type 1].
Lian-Shu Han, Yan-Ling Yang, Rulai Yang, Rui-Min Chen +1 more
2021Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics2 citations
Semantic Scholar
[Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1].
Yaping Shen, K. Yan, Min-Yue Dong, Rulai Yang +1 more
2020Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences2 citations
Semantic Scholar
[Effects of delivery and storage conditions on concentrations of amino acids and carnitines in neonatal dried blood spots].
Ling-Wei Hu, Zhen-Zhen Hu, Jian-Bin Yang, Yu Zhang +4 more
2020Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences2 citations
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Clinical characteristics of children with Herlyn-Werner-Wunderlich syndrome
Zenan Song, Da-Xing Tang, De-Hua Wu, Yong Huang +4 more
20192 citations
Semantic Scholar
[Screening for hereditary tyrosinemia and genotype analysis in newborns].
F. Tong, Rulai Yang, Chang Liu, Ding-Wen Wu +8 more
2019Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences2 citations
Semantic Scholar
A first case report of UDP-galactose-4′-epimerase deficiency in China: genotype and phenotype
F. Tong, Rulai Yang, F. Hong, Gu-Ling Qian +2 more
2016Journal of Pediatric Endocrinology & Metabolism (JPEM)2 citations
Semantic Scholar
[A family study of 3-hydroxy-3-methylglutaric aciduria with 3 cases of sudden infant death].
F. Hong, Xin-Wen Huang, F. Tong, Jian-Bin Yang +5 more
2014Zhonghua er ke za zhi = Chinese journal of pediatrics2 citations
Semantic Scholar
[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing].
Dan-Yan Zhuang, Fei Wang, Shuxia Ding, Zhou-Shu Zheng +6 more
2023Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics1 citations
Semantic Scholar
丁酰基肉碱代谢异常新生儿的基因型和生化表型分析
Ding-Wen Wu, Rulai Yang, Kexin Fang, Chen Liu +3 more
2023Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences1 citations Open access
Semantic Scholar
A case of methylmalonic acidemia and homocysteinemia cblX type with negative tandem mass spectrometry testing.
Yaping Shen, Zhen-Zhen Hu, Jian-Bin Yang, Rulai Yang +1 more
2021Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences1 citations Open access
Semantic Scholar
Application of genetic screening processor in screening neonatal glucose-6-phosphate dehydrogenase deficiency.
H. Miao, Yu Zhang, Kexin Fang, Ye-Zhen Shi +5 more
2021Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences1 citations Open access
Semantic Scholar
[Identification of a de novo missense variant of ARID1B gene in a child with mental retardation].
Ting Zhang, Qian Wu, Jian-Bin Yang, Ding-Wen Wu +3 more
2020Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics1 citations
Semantic Scholar
[Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening].
Hanyi Zhao, Duo Zhou, H. Miao, Chi Chen +3 more
2023Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics0 citations
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新生儿筛查发现的氨甲酰磷酸合成酶1缺乏症患儿长期随访研究
Zhanmin Zhang, F. Tong, Chi Chen, Ting Zhang +5 more
2023Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences0 citations Open access
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Applicationof Genetic Screening Processor in screening of neonatal glucose-6-phosphate dehydrogenase deficiency
H. Miao, Yu Zhang, Ke-Xin Fang, Ye-Zhen Shi +5 more
20210 citations
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原发性肉碱缺乏症的筛查、诊断、治疗及基因型研究
De-Hua Wu, Rulai Yang, Jing Zheng, Ding-Wen Wu +2 more
20200 citations
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浙江省葡萄糖-6-磷酸脱氢酶缺乏症筛查现况调查
Hai-Xia Mou, Ting Zhang, Ke-Xin Fang, Xiao-Cha Xu +5 more
20200 citations
Semantic Scholar
[Phenotypic and genetic analysis of a child with multiple malformations due to 10p13p15.3 duplication].
Xiao-Cha Xu, Ting Zhang, Yaping Shen, Jing Zheng +1 more
2020Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics0 citations
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Laparoscopic management of urachal remnants in children
Lin-Feng Zhu, Yi-Ding Shen, Chang Tao, Guang-Jie Chen +6 more
20190 citations
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[Genetic analysis of newborns with abnormal metabolism of 3-hydroxyisovalerylcarnitine].
Ding-Wen Wu, Bin Lu, Jian-Bin Yang, Rulai Yang +4 more
2019Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences0 citations
Semantic Scholar