Xiaoxu Yang, Ph.D. - Publications

Affiliations: 
2013-2018 School of Life Science Peking University, Beijing, Beijing Shi, China 
 2018- Neurosciences University of California, San Diego, La Jolla, CA 
Area:
mosaicism in development and its role in neurological disorders
Website:
https://www.researchgate.net/profile/Xiaoxu_Yang4

17 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Ghosh SG, Wang L, Breuss MW, Green JD, Stanley V, Yang X, Ross D, Traynor BJ, Alhashem AM, Azam M, Selim L, Bastaki L, Elbastawisy HI, Temtamy S, Zaki M, et al. Recurrent homozygous damaging mutation in , encoding a protein disulfide isomerase, in four families with microlissencephaly. Journal of Medical Genetics. PMID 31586943 DOI: 10.1136/jmedgenet-2019-106409  0.08
2019 Pelorosso C, Watrin F, Conti V, Buhler E, Gelot A, Yang X, Mei D, McEvoy-Venneri J, Manent JB, Cetica V, Ball LL, Buccoliero AM, Vinck A, Barba C, Gleeson JG, et al. Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy. Human Molecular Genetics. PMID 31411685 DOI: 10.1093/hmg/ddz194  0.12
2019 Zhao B, Wu Q, Ye AY, Guo J, Zheng X, Yang X, Yan L, Liu QR, Hyde TM, Wei L, Huang AY. Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals. Plos Genetics. 15: e1008043. PMID 30973874 DOI: 10.1371/journal.pgen.1008043  1
2019 Yang X, Yang X, Chen J, Li S, Zeng Q, Huang AY, Ye AY, Yu Z, Wang S, Jiang Y, Wu X, Wu Q, Wei L, Zhang Y. ATP1A3 mosaicism in families with alternating hemiplegia of childhood. Clinical Genetics. PMID 30891744 DOI: 10.1111/cge.13539  1
2019 Zhang Q, Yang X, Wang J, Li J, Wu Q, Wen Y, Zhao Y, Zhang X, Yao H, Wu X, Yu S, Wei L, Bao X. Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30783265 DOI: 10.1038/s41436-019-0461-x  1
2018 Zhang Q, Yang X, Wang J, Li J, Wu Q, Wen Y, Zhao Y, Zhang X, Yao H, Wu X, Yu S, Wei L, Bao X. Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30405208 DOI: 10.1038/s41436-018-0348-2  1
2018 Yang C, Li J, Wu Q, Yang X, Huang AY, Zhang J, Ye AY, Dou Y, Yan L, Zhou WZ, Kong L, Wang M, Ai C, Yang D, Wei L. AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder. Database : the Journal of Biological Databases and Curation. 2018. PMID 30339214 DOI: 10.1093/database/bay106  1
2018 Liu A, Yang X, Yang X, Wu Q, Zhang J, Sun D, Yang Z, Jiang Y, Wu X, Wei L, Zhang Y. Mosaicism and incomplete penetrance of mutations. Journal of Medical Genetics. PMID 30287595 DOI: 10.1136/jmedgenet-2017-105235  1
2018 Ye AY, Dou Y, Yang X, Wang S, Huang AY, Wei L. A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations. Genome Research. PMID 29875290 DOI: 10.1101/gr.230003.117  1
2018 Huang AY, Yang X, Wang S, Zheng X, Wu Q, Ye AY, Wei L. Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs. Plos Genetics. 14: e1007395. PMID 29763432 DOI: 10.1371/journal.pgen.1007395  1
2017 Yang X, Liu A, Xu X, Yang X, Zeng Q, Ye AY, Yu Z, Wang S, Huang AY, Wu X, Wu Q, Wei L, Zhang Y. Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort. Scientific Reports. 7: 15677. PMID 29142202 DOI: 10.1038/s41598-017-15814-7  1
2017 Wang K, Lai S, Yang X, Zhu T, Lu X, Wu CI, Ruan J. Ultrasensitive and high-efficiency screen of de novo low-frequency mutations by o2n-seq. Nature Communications. 8: 15335. PMID 28530222 DOI: 10.1038/ncomms15335  0.08
2017 Dou Y, Yang X, Li Z, Wang S, Zhang Z, Ye AY, Yan L, Yang C, Wu Q, Li J, Zhao B, Huang AY, Wei L. Post-zygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations. Human Mutation. PMID 28503910 DOI: 10.1002/humu.23255  1
2017 Huang AY, Zhang Z, Ye AY, Dou Y, Yan L, Yang X, Zhang Y, Wei L. MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples. Nucleic Acids Research. PMID 28132024 DOI: 10.1093/nar/gkx024  1
2015 Xu X, Yang X, Wu Q, Liu A, Yang X, Ye AY, Huang AY, Li J, Wang M, Yu Z, Wang S, Zhang Z, Wu X, Wei L, Zhang Y. Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome. Human Mutation. PMID 26096185 DOI: 10.1002/humu.22819  1
2014 Ding Y, Wang M, He Y, Ye AY, Yang X, Liu F, Meng Y, Gao G, Wei L. "Bioinformatics: introduction and methods," a bilingual Massive Open Online Course (MOOC) as a new example for global bioinformatics education. Plos Computational Biology. 10: e1003955. PMID 25503717 DOI: 10.1371/journal.pcbi.1003955  1
2014 Huang AY, Xu X, Ye AY, Wu Q, Yan L, Zhao B, Yang X, He Y, Wang S, Zhang Z, Gu B, Zhao HQ, Wang M, Gao H, Gao G, ... ... Yang X, et al. Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals. Cell Research. 24: 1311-27. PMID 25312340 DOI: 10.1038/cr.2014.131  1
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