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Xiaoxu Yang, Ph.D. - Publications

Affiliations: 
2008-2009 Information Science and Technologies Beijing Normal University, Beijing, Beijing Shi, China 
 2009-2013 Life Sciences Beijing Normal University, Beijing, Beijing Shi, China 
 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://sites.google.com/view/xiaoxu-yang-lab

42 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
2024 Chung C, Yang X, Hevner RF, Kennedy K, Vong KI, Liu Y, Patel A, Nedunuri R, Barton ST, Noel G, Barrows C, Stanley V, Mittal S, Breuss MW, Schlachetzki JCM, et al. Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain. Nature. PMID 38600385 DOI: 10.1038/s41586-024-07292-5  0.773
2023 Garrison MA, Jang Y, Bae T, Cherskov A, Emery SB, Fasching L, Jones A, Moldovan JB, Molitor C, Pochareddy S, Peters MA, Shin JH, Wang Y, Yang X, Akbarian S, et al. Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases. Scientific Data. 10: 813. PMID 37985666 DOI: 10.1038/s41597-023-02645-7  0.599
2023 Chung C, Yang X, Hevner RF, Kennedy K, Vong KI, Liu Y, Patel A, Nedunuri R, Barton ST, Barrows C, Stanley V, Mittal S, Breuss MW, Schlachetzki JCM, Gleeson JG. Cell-type-resolved somatic mosaicism reveals clonal dynamics of the human forebrain. Biorxiv : the Preprint Server For Biology. PMID 37961480 DOI: 10.1101/2023.10.24.563814  0.771
2023 Graham JH, Schlachetzki JCM, Yang X, Breuss MW. Genomic Mosaicism of the Brain: Origin, Impact, and Utility. Neuroscience Bulletin. PMID 37898991 DOI: 10.1007/s12264-023-01124-8  0.803
2023 Chung C, Yang X, Gleeson JG. Post-zygotic brain mosaicism as a result of partial reversion of pre-zygotic aneuploidy. Nature Genetics. PMID 37872451 DOI: 10.1038/s41588-023-01552-2  0.603
2023 Wen Y, Wang J, Zhang Q, Yang X, Wei L, Bao X. MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males. Bmc Medicine. 21: 155. PMID 37081442 DOI: 10.1186/s12916-023-02846-2  0.562
2023 Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, et al. Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development. Nature Genetics. PMID 36635388 DOI: 10.1038/s41588-022-01276-9  0.805
2023 Yang X, Xu X, Breuss MW, Antaki D, Ball LL, Chung C, Shen J, Li C, George RD, Wang Y, Bae T, Cheng Y, Abyzov A, Wei L, Alexandrov LB, et al. Control-independent mosaic single nucleotide variant detection with DeepMosaic. Nature Biotechnology. PMID 36593400 DOI: 10.1038/s41587-022-01559-w  0.779
2022 Chen J, Chen Y, Yang Y, Niu X, Zhang J, Zeng Q, Liu A, Xu X, Yang X, Li S, Yang X, Wang Y, Zhang Y. Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing. Journal of Human Genetics. PMID 36482122 DOI: 10.1038/s10038-022-01103-3  0.358
2022 Zhang J, Li Z, Wu Y, Ye AY, Chen L, Yang X, Wu Q, Wei L. RJAfinder: An automated tool for quantification of responding to joint attention behaviors in autism spectrum disorder using eye tracking data. Frontiers in Neuroscience. 16: 915464. PMID 36466175 DOI: 10.3389/fnins.2022.915464  0.741
2022 Chen Y, Yang X, Chen J, Yang X, Yang Y, Liu A, Zhang X, Wu W, Sun D, Yang Z, Jiang Y, Zhang Y. -related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency. Frontiers in Neurology. 13: 1041509. PMID 36408521 DOI: 10.3389/fneur.2022.1041509  0.319
2022 Bae T, Fasching L, Wang Y, Shin JH, Suvakov M, Jang Y, Norton S, Dias C, Mariani J, Jourdon A, Wu F, Panda A, Pattni R, Chahine Y, Yeh R, ... ... Yang X, et al. Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability. Science (New York, N.Y.). 377: 511-517. PMID 35901164 DOI: 10.1126/science.abm6222  0.805
2022 Breuss MW, Yang X, Stanley V, McEvoy-Venneri J, Xu X, Morales AJ, Gleeson JG. Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission. Elife. 11. PMID 35787314 DOI: 10.7554/eLife.78459  0.81
2022 Breuss MW, Yang X, Schlachetzki JCM, Antaki D, Lana AJ, Xu X, Chung C, Chai G, Stanley V, Song Q, Newmeyer TF, Nguyen A, O'Brien S, Hoeksema MA, Cao B, et al. Somatic mosaicism reveals clonal distributions of neocortical development. Nature. PMID 35444276 DOI: 10.1038/s41586-022-04602-7  0.79
2021 von Elsner L, Chai G, Schneeberger PE, Harms FL, Casar C, Qi M, Alawi M, Abdel-Salam GMH, Zaki MS, Arndt F, Yang X, Stanley V, Hempel M, Gleeson JG, Kutsche K. Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation. Brain : a Journal of Neurology. PMID 34694367 DOI: 10.1093/brain/awab403  0.736
2021 Chai G, Szenker-Ravi E, Chung C, Li Z, Wang L, Khatoo M, Marshall T, Jiang N, Yang X, McEvoy-Venneri J, Stanley V, Anzenberg P, Lang N, Wazny V, Yu J, et al. A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. The New England Journal of Medicine. 385: 1292-1301. PMID 34587386 DOI: 10.1056/NEJMoa2033911  0.775
2021 Yang X, Breuss MW, Xu X, Antaki D, James KN, Stanley V, Ball LL, George RD, Wirth SA, Cao B, Nguyen A, McEvoy-Venneri J, Chai G, Nahas S, Van Der Kraan L, et al. Developmental and temporal characteristics of clonal sperm mosaicism. Cell. PMID 34388390 DOI: 10.1016/j.cell.2021.07.024  0.814
2021 Breuss MW, Yang X, Gleeson JG. Sperm mosaicism: implications for genomic diversity and disease. Trends in Genetics : Tig. PMID 34158173 DOI: 10.1016/j.tig.2021.05.007  0.803
2021 Wang Y, Bae T, Thorpe J, Sherman MA, Jones AG, Cho S, Daily K, Dou Y, Ganz J, Galor A, Lobon I, Pattni R, Rosenbluh C, Tomasi S, Tomasini L, ... Yang X, et al. Comprehensive identification of somatic nucleotide variants in human brain tissue. Genome Biology. 22: 92. PMID 33781308 DOI: 10.1186/s13059-021-02285-3  0.76
2020 Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, et al. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. PMID 33220177 DOI: 10.1016/j.neuron.2020.10.035  0.794
2020 Yang X, Yang C, Zheng X, Xiong L, Tao Y, Wang M, Yongxin Ye A, Wu Q, Dou Y, Luo J, Wei L, Yue Huang A. MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals. Genomics, Proteomics & Bioinformatics. PMID 32911083 DOI: 10.1016/J.Gpb.2020.05.002  0.808
2020 Ghosh SG, Scala M, Beetz C, Helman G, Stanley V, Yang X, Breuss MW, Mazaheri N, Selim L, Hadipour F, Pais L, Stutterd CA, Karageorgou V, Begtrup A, Crunk A, et al. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. European Journal of Human Genetics : Ejhg. PMID 32901138 DOI: 10.1038/S41431-020-00717-5  0.776
2020 Garcia CAB, Carvalho SCS, Yang X, Ball LL, George RD, James KN, Stanley V, Breuss MW, Thomé U, Santos MV, Saggioro FP, Neder Serafini L, Silva WA, Gleeson JG, Machado HR. mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly. Epilepsia Open. 5: 97-106. PMID 32140648 DOI: 10.1002/epi4.12377  0.761
2019 Breuss MW, Antaki D, George RD, Kleiber M, James KN, Ball LL, Hong O, Mitra I, Yang X, Wirth SA, Gu J, Garcia CAB, Gujral M, Brandler WM, Musaev D, et al. Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nature Medicine. PMID 31873310 DOI: 10.1038/S41591-019-0711-0  0.799
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  0.757
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  0.672
2019 Jiang S, Cheng SJ, Ren LC, Wang Q, Kang YJ, Ding Y, Hou M, Yang XX, Lin Y, Liang N, Gao G. An expanded landscape of human long noncoding RNA. Nucleic Acids Research. PMID 31350901 DOI: 10.1093/Nar/Gkz621  0.387
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  0.81
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  0.805
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  0.662
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  0.698
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  0.774
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  0.636
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  0.811
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  0.813
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  0.802
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  0.508
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  0.786
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  0.805
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  0.809
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  0.739
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  0.816
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