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| 1 | Is Sonic hedgehog (SHH) a candidate gene for spina bifida? A pilot study显示文摘 | HuipingZhu RobertBarber Gary M.Shaw Edward J.Lammer Richard H.Finnell | 2003 | Am J Med Genet2003，，1： | 1 |
| 2 | New myotonic dystrophy type 1 mouse model显示文摘Myotonic dystrophy type 1(DM1)is a genetic disorder which compromises multiple organs and for which investigators lack a suitable mouse model for mechanistic and potential drug screening studies.Yin and colleagues using the latest genetic editing method,the CRISPR-Cas9 technique,started from newly established androgenic haploid embryonic stem cells to make a triple heterozygous mutant DM1 mouse model,as well as a quadruple heterozygous mutant DM1 mouse model,which faithfully recapitulates the pathological phenotypes of human DM1. | Yunping Lei Richard H.Finnell | 2020 | Cell Research2020，30，2： | 0 |
| 3 | Author Correction: Threshold for neural tube defect risk by accumulated singleton loss-of-function variants显示文摘We apologize for one error that we just found in the paper published in 2018,October issue.There were mistakes in the institutional affiliation of co-authors Yunping Lei and Richard H. Finnell. Both authors were only affiliated to #3, Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, TX 77030, USA. There is no co-authorship with the affiliation #4. This correction does not affect the description of the results or the conclusion of this work. We apologize for not detecting them before publication and any in convenience caused. The correct affiliations of authors should be as follows. | Zhongzhong Chen Yunping Lei Yufang Zheng Vanessa Aguiar-Pulido M.Elizabeth Ross Rui Peng Li Jin Ting Zhang Richard H.Finnell Hongyan Wang | 2019 | Cell Research2019，29，9： | 0 |
| 4 | Executive Editor-in-Chief’s introduction for this Special Issue显示文摘Dear Colleagues,As an Executive Editor-in-Chief,I have edited this Special Issue(SI),entitled “Birth Defects:Issues and Advances in 2022”in the journal Reproductive and Developmental Medicine(RDM,ISSN:2096-2924,CN:10-1442/R),the first ever English journal in the field of reproductive medicine and developmental biology in China's Mainland.Since its launch in 2017,RDM has been dedicated to providing a good platform for academic exchanges among scientists,both at home and abroad. | Richard H.Finnell | 2022 | Reproductive and Developmental Medicine2022，6，2： | 0 |
| 5 | 基因组结构变异研究的前瞻性及临床应用显示文摘The challenges and breakthroughs in human genetics can largely depend on the depth of exploring the missing heritability[1]and understanding of genetic variants,which enabled scientists to better elucidate the underlying causes of diseases and apply this knowledge in clinical settings.Human genomes differ from one individual to another in the form of single nucleotide variants(SNVs),small insertions and deletions(indels)(<50 base pairs(bp)),and structural variants(SVs)[2]. | 陈仲中 Richard H.Finnell 雷云平 王红艳 | 2024 | Science Bulletin2024，69，6： | 0 |
| 6 | Homozygous Mutation in the MTHFS Gene May Contribute to the Development of Cerebral Folate Deficiency Syndrome显示文摘Objective:The purpose of this study was to examine the role of rare variants in the one-carbon metabolic pathway in the etiology of the cerebral folate deficiency(CFD)syndrome.The CFD syndrome is a neurometabolic syndrome identified by low concentrations of 5-methyltetrahydrofolate(5-MTHF)in the cerebrospinal fluid(CSF)in spite of near-normal peripheral folate levels resulting in neurodevelopmental disorders.Methods:The localized folate metabolism impairments in CFD are thought to be either the result of mutations in genes responsible for folate transport or folate turnover through degradation.Genes that have been previously implicated in the etiology of CFD include folate receptor alpha-1(FOLR1),dihydrofolate reductase,proton-coupled folate transporter,and capicua.We performed whole-exome sequencing(WES)analysis of a CFD patient that revealed 99 novel missense mutations,of which 21 were classified as damaging mutations through the Poly-Phen2 prediction algorithm.In vitro functional studies were conducted by transient transfection of wild-type and mutant MTHFS into HEK293T cells to determine the impact of the variants on enzyme activity.Results:Of the damaging variants identified in the WES studies,we focused on the gene coding for the enzyme 5,10-methenyl-tetrahydrofolate synthetase(MTHFS).This enzyme catalyzes the production of methenyl THF which is subsequently converted to 5-MTHF.The CFD patient described within was found to carry a homozygous mutation,c.101G>T(p.R34L,rs200058464)in MTHFS,while the parents of the proband are heterozygotes for the MTHFS gene,and the healthy sibling is not a carrier.Conclusion:The mutant allele displayed a 50%reduction in luciferase activity(P<0.05),suggesting that homozygous loss of the MTHFS gene may play a significant role in the development of CFD. | Dharaniya Sakthivel Yunping Lei Xuanye Cao Richard H.Finnell | 2020 | Reproductive and Developmental Medicine2020，4，2： | 0 |
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