Tools and Publications

SELECTED Tools

(* First authors, # corresponding authors, lab members, full publication lists on My Bibliography, google scholar or ORCID)

DeepMosaic: Control-independent mosaic single nucleotide variant detection with convolutional neural network

Xiaoxu Yang*,#, Xin Xu*, Martin W Breuss, Danny Antaki, Laurel L Ball, Changuk Chung, Jiawei Shen, Chen Li, Renee D George, Yifan Wang, Taejeong Bae, Yuhe Cheng, Alexej Abyzov, Liping Wei, Ludmil B Alexandrov, Jonathan L Sebat, NIMH Brain Somatic Mosacism Network, Joseph G Gleeson#, 2023, Nature Biotechnology, 41(6), 870-877. (PMID 36593400, DeepMosaic on Github, Docker Container on Docker Hub, Singularity Container on Sylabs, Youtube intro video)

PASM and MPAS: Developmental and temporal characteristics of clonal sperm mosaicism

Xiaoxu Yang*, Martin W Breuss*, Xin Xu, Danny Antaki, Kiely N James, Valentina Stanley, Laurel L Ball, Renee D George, Sara A Wirth, Beibei Cao, An Nguyen, Jennifer McEvoy-Venneri, Guoliang Chai, Shareef Nahas, Lucitia Van Der Kraan, Yan Ding, Jonathan Sebat, Joseph G Gleeson, 2021, Cell, 184 (18), P4772-4783.e15. (PMID 34388390, PASM and MPAS on Github, Data and Pipelines on Github)

Mosaic Variant Barcode Analysis: Genomic mosaicism reveals developmental organization of sensory and sympathetic ganglia

Keng Ioi Vong*, Yanina D Alvarez, Qingquan Zhang, Jiaming Weng, Geoffroy Noel, Scott T Barton, Changuk Chung, Robyn Howarth, Naomi Meave, Fiza Jiwani, Sai Babu Patarlapalli, Chelsea Barrows, Arzoo Patel, Jiang Xiong Wang, Neil Chi, Stephen F Kingsmore, Melanie D White, Xiaoxu Yang*,#, Joseph G Gleeson# , 2026, Nature (Accepted, Preprint version, Data on SRA, Codes on GitHub)

MosaicBase: A Knowledgebase of postzygotic mosaic variants in noncancer disease-related and healthy human Individuals

Xiaoxu Yang*, Changhong Yang*, Xianing Zheng*, Luoxing Xiong, Yutian Tao, Meng Wang, Adam Yongxin Ye, Qixi Wu, Yanmei Dou, Junyu Luo, Liping Wei#, August Yue Huang#, 2020, Genomics, Proteomics & Bioinformatics, 18 (2), 140-149. (PMID 32911083, MosaicBase website, Tutorials on GitHub)

More tools and scripts are available on GitHub.

SELECTED RESEARCH ARTICLES

Somatic mosaicism patterns define clinical-surgical subtypes of focal cortical dysplasia through cell-type-specific expression

Camila Araújo Bernardino Garcia*, Muhammad Zubair*, Xincen Xi, Ian Alfred Graham, Sang Hyun Lee, Sai Babu Patarlapalli, Marcelo Volpon Santos, Hélio Rubens Machado#, Xiaoxu Yang# 2025, medRxiv (PMID 41282912, Codes on GitHub)

Identification of novel mosaic variants in focal epilepsy-associated patients’ brain lesions

Camila Araújo Bernardino Garcia*, Muhammad Zubair*, Marcelo Volpon Santos, Sang Hyun Lee, Ian Alfred Graham, Valentina Stanley, Renee D. George, Joseph G. Gleeson, Hélio Rubens Machado#, Xiaoxu Yang#, 2025, Genes, 16 (4), 421. (PMID 40282380)

Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain

Changuk Chung*, Xiaoxu Yang*, Robert F Hevner, Keng Ioi Vong, Yang Liu, Arzoo Patel, Rahul Nedunri, Scott T Barton, Geoffroy Noel, Chelsea Barrows, Valentina Stanley, Swapni Mittal, Martin W Breuss, Johannes C M Schlachetzki, Stephen F Kingsmore, Joseph G Gleeson, 2024, Nature, 629 (8011), 384-392. (PMID 38600385 Data on SRA, Data on NDA, Codes on GitHub, Youtube intro video)

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Changuk Chung*, Xiaoxu Yang*, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H Westley Phillips, Zhen Li, Ashley PL Marsh, Martin W Breuss, Laurel L Ball, Camila Araújo Bernardino Garcia, Renee D George, Jing Gu, Mingchu Xu, Chelsea Barrows, Kiely N James, Valentina Stanley, Anna S Nidhiry, Sami Khoury, Gabrielle Howe, Emily Riley, Xin Xu, Brett Copeland, Yifan Wang, Se Hoon Kim, Hoon-Chul Kang, Andreas Schulze-Bonhage, Carola A Haas, Horst Urbach, Marco Prinz, David D Limbrick, Christina A Gurnett, Matthew D Smyth, Shifteh Sattar, Mark Nespeca, David D Gonda, Katsumi Imai, Yukitoshi Takahashi, Hsin-Hung Chen, Jin-Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Wilson A Silva, Helio R Machado, Gary W Mathern, Alexej Abyzov, Sara Baldassari, Stéphanie Baulac, Joseph G Gleeson, 2023, Nature Genetics, 55 (2), 209-220. (Cover Article, PMID 36635388, Data on dbGaP, Data on NDA, Codes on GitHub, Youtube intro video)

Somatic mosaicism reveals clonal distributions of neocortical development

Martin W. Breuss*, Xiaoxu Yang*, Johannes C. M. Schlachetzki*, Danny Antaki*, Addison J. Lana, Xin Xu, Changuk Chung, Guoliang Chai, Valentina Stanley, Qiong Song, Traci F. Newmeyer, An Nguyen, Sydney O’ Brien, Marten A. Hoeksema, Beibei Cao, Alexi Nott, Jennifer McEvoy-Venneri, Martina P. Pasillas, Scott T. Barton, Brett R. Copeland, Shareef Nahas, Lucitia Van Der Kraan, Yan Ding, NIMH Brain Somatic Mosaicism Network, Christopher K. Glass, Joseph G. Gleeson, 2022, Nature, 604 (7907), 689-696. (PMID 35444276, Data on SRA, Data on NDA, Codes on Github)

Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission

Martin W Breuss*,#, Xiaoxu Yang*, Valentina Stanley, Jennifer McEvoy-Venneri, Xin Xu, Arlene J Morales, Joseph G Gleeson#, 2022, eLife, 11, e78459. (PMID 35787314 , Codes on GitHub)

ATP1A3 mosaicism in families with alternating hemiplegia of childhood

Xiaoling Yang*, Xiaoxu Yang*, Jiaoyang Chen, Shupin Li, Qi Zeng, August Yue Huang, Adam Yongxin Ye, Zhe Yu, Sheng Wang, Yuwu Jiang, Xiru Wu, Qixi Wu#, Liping Wei#, Yuehua Zhang#, 2019, Clinical Genetics, 96 (1), 43-52. (PMID 30891744, Raw Digital PCR Data)

Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort

Qingping Zhang*, Xiaoxu Yang*, Jiaping Wang*, Jiarui Li*, Qixi Wu, Yongxin Wen, Ying Zhao, Xiaoying Zhang, He Yao, Xiru Wu, Shujie Yu, Liping Wei#, Xinhua Bao#, 2019, Genetics in Medicine, 21 (9), 2162-2162. (PMID 30405208)

Mosaicism and incomplete penetrance of PCDH19 mutations

Aijie Liu*, Xiaoxu Yang*, Xiaoling Yang*, Qixi Wu, Jing Zhang, Dan Sun, Zhixian Yang, Yuwu Jiang, Xiru Wu, Liping Wei#, Yuehua Zhang#, 2018, Journal of Medical Genetics, 56 (2), 81-88. (PMID 30287595)

Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs

August Yue Huang*,#, Xiaoxu Yang*, Sheng Wang, Xianing Zheng, Qixi Wu, Adam Yongxin Ye, Liping Wei#, 2018, PLoS Genetics, 14 (5), e1007395. (PMID 29763432, Data on SRA, Codes on GitHub)

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort

Xiaoxu Yang*, Aijie Liu*, Xiaojing Xu, Xiaoling Yang, Qi Zeng, Adam Yongxin Ye, Zhe Yu, Sheng Wang, August Yue Huang, Xiru Wu, Qixi Wu#, Liping Wei#, Yuehua Zhang#, 2017, Scientific Reports, 7 (1), 15677. (PMID 29142202, Data on ClinVar, Codes on GitHub)

Amplicon resequencing identified parental mosaicism for approximately 10% of “de novo” SCN1A mutations in children with Dravet syndrome

Xiaojing Xu*, Xiaoxu Yang*, Qixi Wu*, Aijie Liu, Xiaoling Yang, Adam Yongxin Ye, August Yue Huang, Jiarui Li, Meng Wang, Zhe Yu, Sheng Wang, Zhichao Zhang, Xiru Wu, Liping Wei#, Yuehua Zhang#, 2015, Human Mutation, 36 (9), 861-872. (PMID 26096185, PASM and MPAS on Github, Data on ClinVar)

OTHER PUBLIcaTIONS / CONSORTIUM PUBLICATIONS

2026Conserved shifts in sperm small non-coding RNA profiles during mouse and human aging Junchao Shi*, Xudong Zhang*, Chen Cai, Shichao Liu, Jiancheng Yu, Emma R James, Lihua Liu, Benjamin R Emery, Megan R McMurray Bires, Elizabeth Torres-Arce, Hukam C Rawal, Joemy Ramsay, Jason Kunisaki, Changcheng Zhou, David S Milstone, Mary Elizabeth Patti, Xiaoxu Yang, Tim G Jenkins, Aaron Quinlan, Bradley R Cairns, Paul Schimmel, James M Hotaling, Kenneth I Aston#, Tong Zhou#, Qi Chen#. 2026, EMBO J. (PMID 41559200)
2025Somatic gene mutations in the motor cortex of patients with sporadic amyotrophic lateral sclerosis Oscar Gonzalez-Velasco*, Rosanna Parlato*, Rustem Yilmaz, Lorena Decker, Sonja Menge, Axel Freischmidt, Xiaoxu Yang, Nikshitha Tulasi, David Brenner, Peter M. Andersen, Karin Forsberg, Johannes C.M. Schlachetzki, Benedikt Brors, Lena Voith von Voithenberg#, Jochen H. Weishaupt#. 2025, Brain. (PMID 41378777)
Direct identification of de novo mobile element insertions from single molecule sequencing of human sperm, Stacy Li, Kenneth Aston, Joseph G Gleeson, Aaron Quinlan, Xiaoxu Yang, Peter H Sudmant. 2025, bioRxiv. (PMID 41278641)
A Universal duplex sequencing approach for accurate detection of somatic mutations, Shuvro Nandi*, Yuhe Cheng*, Shams Al-Azzam, Safa Saeed, Audrey Kristin, Nadia Sunico, Isabella Stuewe, Zichen Jiang, Luka Culibrk, Maria Zhivagui, Xiaoxu Yang, Rachel Wise, Foster Jacobs, Berenice Chavanel, Michael Korenjak, Mia Petljak, Silvia Balbo, Laurie G Hudson, Ke Jian Liu, Jiri Zavadil, Joseph G Gleeson, Ludmil B Alexandrov. 2025, bioRxiv. (PMID 41000705)
Integrated subcellular localization of functional fluorescence probes and functional analysis in motile spermatozoa by an AI-enhanced algorithm. Ya-Zhen Wei*, Yu-Xiang Nong*, Si-Xian Wu, Xiao-Xu Yang, Yu-Xi Chen, Kang-Kang Yu, Han-Yu Zhu, Xu-Dong Shan, Wei-Wei Zhi, Ang Bian, Wen-Ming Xu. 2025, Asian Journal of Andrology. (PMID 40908796)
CREPE (CREate Primers and Evaluate): a computational tool for large-scale primer design and specificity analysis, Jonathan W Pitsch, Sara A Wirth, Nicole T Costantino, Josh Mejia, Rose M Doss, Ava V.A. Warren, Jack Ustanik, Xiaoxu Yang, Martin W Breuss. 2025. Genes, 2025.03.28.646040 . (PMID 40282380)
High-resolution dissection of human cell type-specific enhancers in cis and trans activities, Meng Wang#, Xiaoxu Yang, Qixi Wu#, 2025, Genomics, 110985. (PMID 39755338)
2024Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes, Eduardo A Maury*, Attila Jones*, Vladimir Seplyarskiy*, Thanh L. Nguyen, Chaggai Rosenbluh, Taejong Bae, Yifan Wang, Alexej Abyzov, Sattar Khoshkoo, Yasmine Chahine, Sijing Zhao, Sanan Venkateshi, Elise Root, Georglos Voloudakis, Panagiotis Roussos, Brain Somatic Mosaicism Network, Peter J Park, Schahram Akbarian, Kristen Brennand, Steven Reilly, Eunjung Alice Lee, Shamil R Sunyaev#, Christopher A Walsh#, Andrew Chess#, 2024, Science, 386, 217-224. (PMID 39388546)
Gene expression and chromatin conformation of microglia in virally suppressed people with HIV, Johannes CM Schlachetzki#, Sara Gianella, Zhengyu Ouyang, Addison J Lana, Xiaoxu Yang, Sydney O’Brien, Jean F Challacombe, Peter J Gaskill, Kelly L Jordan-Sciutto, Antoine Chaillon, David Moore, Cristian L Achim, Ronald J Ellis, Davey M Smith, Christopher K Glass#, Life Science Alliance, 8 (1),1-13. (PMID 39060113)
Mapping recurrent mosaic copy number variation in human neurons, Chen Sun*, Kunal Kathuria*, Sarah B Emery, ByungJun Kim, Ian E Burbulis, JooHeon Shin, Brain Somatic Mosaicism Network, Daniel R Weinberger, John V Moran, Jeffery M Kidd, Ryan E Mills, Michael J McConnell, 2024, Nature Communications, 15(1):4220. (PMID 38760338)
2023Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases, McKinzie A Garrison, Yeongjun Jang, Taejeong Bae, Adriana Cherskov, Sarah B Emery, Liana Fasching, Attila Jones, John B Moldovan, Cindy Molitor, Sirisha Pochareddy, Mette A Peters, Joo Heon Shin, Yifan Wang, Xiaoxu Yang, Schahram Akbarian, Andrew Chess, Fred H Gage, Joseph G Gleeson, Jeffrey M Kidd, Michael McConnell, Ryan E Mills, John V Moran, Peter J Park, Nenad Sestan, Alexander E Urban, Flora M Vaccarino, Christopher A Walsh, Daniel R Weinberger, Sarah J Wheelan, Alexej Abyzov, & BSMN Consortium, 2023, Scientific Data, 2023.10.24.563814. (PMID 37985666, Codes on GitHub)
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions, Eduardo A Maury, Maxwell A Sherman, Giulio Genovese, Thomas G Gilgenast, Tushar Kamath, SJ Burris, Prashanth Rajarajan, Erin Flaherty, Schahram Akbarian, Andrew Chess, Steven A McCarroll, Po-Ru Loh, Jennifer E Phillips-Cremins, Kristen J Brennand, Evan Z Macosko, James TR Walters, Michael O’Donovan, Patrick Sullivan, Psychiatric Genomic Consortium Schizophrenia and CNV workgroup and Brain Somatic Mosaicism Network, Sebat Jonathan L, Lee Eunjung A, Christopher A Walsh, 2023, Cell Genomics, 3(100356), 1-15 e6. (PMID 37601975)
MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males, Yongxin Wen*, Jiaping Wang*, Qingping Zhang, Xiaoxu Yang, Liping Wei, Xinhua Bao, 2023, BMC Medicine, 21(155), 1-10. (PMID 37081442)
2022Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing, Jiaoyang Chen*, Yi Chen*, Ying Yang, Xueyang Niu, Jing Zhang, Qi Zeng, Aijie Liu, Xiaojiang Xu, Xiaoxu Yang, Shupin Li, Xiaoling Yang, Yi Wang, Yuehua Zhang, 2022, Journal of Human Genetics, 68(2), 73-80. (PMID 36482122)
RJAfinder: an automated tool for quantification of responding to joint attention behaviors in autism spectrum disorder using eye tracking data, Jie Zhang*, Ziyi Li*, Yige Wu, Adam Yongxin Ye, Lei Chen, Xiaoxu Yang, Qixi Wu, Liping Wei, 2022, Frontiers in Neurosciences, 16(915464), 1-13. (PMID 36466175)
PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency, Yi Chen, Xiaoxu Yang, Jiaoyang Chen, Xiaoling Yang, Ying Yang, Aijie Liu, Xiaoli Zhang, Wenjuan Wu, Dan Sun, Zhixian Yang, Yuwu Jiang, Zhang Yuehua, 2022, Frontiers in Neurology, 13(1041509), 1-13. (PMID 36408521)
Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability, Taejeong Bae*, Liana Fasching*, Yifan Wang*, Joo Heon Shin*, Milovan Suvakov, Yeongjun Jang, Scott Norton, Caroline Dias, Jessica Mariani, Alexandre Jourdon, Feinan Wu, Arijit Panda, Reenal Pattni, Yasmine Chahine, Rebecca Yeh, Rosalinda C Roberts, Anita Huttner, Joel E Kleinman, Thomas M Hyde, Richard E Straub, Christopher A Walsh, Brain Somatic Mosaicism Network, Alexander E Urban, James F Leckman, Daniel R Weinberger#, Flora M Vaccarino#, Alexej Abyzov#, 2022, Science, 377(6605), 511-517. (PMID 35901164)
2021Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation, Leonie von Elsner*, Guoliang Chai*, Pauline E Schneeberger*, Frederike L Harms, Christian Casar, Minyue Qi, Malik Alawi, Ghada MH Abdel-Salam, Maha S Zaki, Florian Arndt, Xiaoxu Yang, Valentina Stanley, Maja Hempel, Joseph G Gleeson, Kerstin Kutsche, 2021, Brain, 145(4),1551-1563. (PMID 34694367)
A human pleiotropic multiorgan condition caused by deficient Wnt secretion, Guoliang Chai, Emmanuelle Szenker-Ravi, Changuk Chung, Zhen Li, Lu Wang, Muznah Khatoo, Trevor Marshall, Nan Jiang, Xiaoxu Yang, Jennifer McEvoy-Venneri, Valentina Stanley, Paula Anzenberg, Nhi Lang, Vanessa Wazny, Jia Yu, David M Virshup, Rie Nygaard, Filippo Mancia, Rijad Merdzanic, Maria BP Toralles, Paula ML Pitanga, Ratna D Puri, Rebecca Hernan, Wendy K Chung, Aida M Bertoli-Avella, Nouriya Al-Sannaa, Maha S Zaki, Karl Willert, Bruno Reversade#, Joseph G Gleeson#, 2021, New England Journal of Medicine, 385(14), 1292-1301. (PMID 34587386)
Comprehensive identification of somatic nucleotide variants in human brain tissue, Yifan Wang*, Taejeong Bae*, Jeremy Thorpe*, Maxwell A Sherman*, Attila G Jones*, Sean Cho, Kenneth Daily, Yanmei Dou, Javier Ganz, Alon Galor, Irene Lobon, Reenal Pattni, Chaggai Rosenbluh, Simone Tomasi, Livia Tomasini, Xiaoxu Yang, Bo Zhou, Schahram Akbarian, Laurel L Ball, Sara Bizzotto, Sarah B Emery, Ryan Doan, Liana Fasching, Yeongjun Jang, David Juan, Esther Lizano, Lovelace J Luquette, John B Moldovan, Rujuta Narurkar, Matthew T Oetjens, Rachel E Rodin, Shobana Sekar, Joo Heon Shin, Eduardo Soriano, Richard E Straub, Weichen Zhou, Andrew Chess, Joseph G Gleeson, Tomas Marquès-Bonet, Peter J Park, Mette A Peters, Jonathan Pevsner, Christopher A Walsh, Daniel R Weinberger, Flora M Vaccarino, John V Moran, Alexander E Urban, Jeffrey M Kidd, Ryan E Mills, Alexej Abyzov, 2021, Genome Biology, 22(92), 1-23. (PMID 33781308, Codes on GitHub)
Landmarks of human embryonic development inscribed in somatic mutations, Sara Bizzotto*, Yanmei Dou*, Javier Ganz*, Ryan N Doan, Minseok Kwon, Craig L Bohrson, Sonia N Kim, Taejeong Bae, Alexej Abyzov, Brain Somatic Mosaicism Network, Peter J Park#, Christopher A Walsh#, 2021, Science, 371(6535), 1249-1253. (PMID 33737485)
2020Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly, Guoliang Chai*, Alice Webb*, Chen Li, Danny Antaki, Sangmoon Lee, Martin W Breuss, Nhi Lang, Valentina Stanley, Paula Anzenberg, Xiaoxu Yang, Trevor Marshall, Patrick Gaffney, Klaas J Wierenga, Brian Hon-Yin Chung, Mandy Ho-Yin Tsang, Lynn S Pais, Alysia Kern Lovgren, Grace E VanNoy, Heidi L Rehm, Ghayda Mirzaa, Eyby Leon, Julianne Diaz, Alexander Neumann, Arnout P Kalverda, Iain W Manfield, David A Parry, Clare V Logan, Colin A Johnson, David T Bonthron, Elizabeth MA Valleley, Mahmoud Y Issa, Sherif F Abdel-Ghafar, Mohamed S Abdel-Hamid, Patricia Jennings, Maha S Zaki, Eamonn Sheridan#, Joseph G Gleeson#, 2020, Neuron, 109(2), 241-256 e9. (PMID 33220177, Data on SRA)
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome, Shereen G Ghosh*, Marcello Scala*, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour, Lynn Pais, Chloe A Stutterd, Vasiliki Karageorgou, Amber Begtrup, Amy Crunk, Jane Juusola, Rebecca Willaert, Leigh A Flore, Kelly Kennelly, Christopher Spencer, Martha Brown, Pamela Trapane, Anna CE Hurst, S Lane Rutledge, Dana H Goodloe, Marie T McDonald, Vandana Shashi, Kelly Schoch, Hoda Tomoum, Raghda Zaitoun, Zahra Hadipour, Hamid Galehdari, Alistair T Pagnamenta, Majid Mojarrad, Alireza Sedaghat, Patrícia Dias, Sofia Quintas, Atiyeh Eslahi, Gholamreza Shariati, Peter Bauer, Cas Simons, Henry Houlden, Mahmoud Y Issa, Maha S Zaki, Reza Maroofian#, Joseph G Gleeson#, 2020, European Journal of Human Genetics, 29(2), 271-279. (PMID 32901138)
mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly, Camila AB Garcia, Simone CS Carvalho, Xiaoxu Yang, Laurel L Ball, Renee D George, Kiely N James, Valentina Stanley, Martin W Breuss, Ursula Thomé, Marcelo V Santos, Fabiano P Saggioro, Luciano Neder Serafini, Wilson A Silva, Joseph G Gleeson, Hélio R Machado, 2020, Epilepsia Open, 2020(5), 97-106. (PMID 32140648)
Autism risk in offspring can be assessed through quantification of male sperm mosaicism, Martin W Breuss, Danny Antaki, Renee D George, Morgan Kleiber, Kiely N James, Laurel L Ball, Oanh Hong, Ileena Mitra, Xiaoxu Yang, Sara A Wirth, Jing Gu, Camila AB Garcia, Madhusudan Gujral, William M Brandler, Damir Musaev, An Nguyen, Jennifer McEvoy-Venneri, Renatta Knox, Evan Sticca, Martha Cristina Cancino Botello, Javiera Uribe Fenner, Maria Cárcel Pérez, Maria Arranz, Andrea B Moffitt, Zihua Wang, Amaia Hervás, Orrin Devinsky, Melissa Gymrek, Jonathan Sebat#, Joseph G Gleeson#, 2020, Nature Medicine, 26(1), 143-150. (PMID 31873310, Codes on GitHub)
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly, Shereen Georges Ghosh, Lu Wang, Martin W Breuss, Joshua D Green, Valentina Stanley, Xiaoxu Yang, Danica Ross, Bryan J Traynor, Amal M Alhashem, Matloob Azam, Laila Selim, Laila Bastaki, Hanan I Elbastawisy, Samia Temtamy, Maha Zaki, Joseph G Gleeson, 2020, Journal of Medical Genetics, 57(4), 274-282. (PMID 31586943)
2019Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy, Cristiana Pelorosso*, Françoise Watrin*, Valerio Conti*, Emmanuelle Buhler, Antoinette Gelot, Xiaoxu Yang, Davide Mei, Jennifer McEvoy-Venneri, Jean-Bernard Manent, Valentina Cetica, Laurel L Ball, Anna Maria Buccoliero, Antonin Vinck, Carmen Barba, Joseph G Gleeson, Renzo Guerrini, Alfonso Represa, 2019, Human Molecular Genetics, 28(22), 3755-3765. (PMID 31411685)
An expanded landscape of human long noncoding RNA, Shuai Jiang*, Si-Jin Cheng*, Li-Chen Ren, Qian Wang, Yu-Jian Kang, Yang Ding, Mei Hou, Xiao-Xu Yang, Yuan Lin, Nan Liang, Ge Gao, 2019, Nucleic Acids Research, 47(15), 7842-7856. (PMID 31350901)
Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals, Boxun Zhao, Qixi Wu, Adam Yongxin Ye, Jing Guo, Xianing Zheng, Xiaoxu Yang, Linlin Yan, Qing-Rong Liu, Thomas M Hyde, Liping Wei#, August Yue Huang#, 2019, PLoS Genetics, 15(4), e1008043. (PMID 30973874)
2018AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder, Changhong Yang, Jiarui Li, Qixi Wu, Xiaoxu Yang, August Yue Huang, Jie Zhang, Adam Yongxin Ye, Yanmei Dou, Linlin Yan, Wei-zhen Zhou, Lei Kong, Meng Wang, Chen Ai, Dechang Yang, Liping Wei, 2018, Database, 2018(bay106), 1-8. (PMID 30339214)
A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations, Adam Yongxin Ye*, Yanmei Dou*, Xiaoxu Yang, Sheng Wang, August Yue Huang#, Liping Wei#, 2018, Genome Research, 28(7), 943-951. (PMID 29875290)
2017Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome, AiJie Liu, Xiaoxu Yang, Xiaojing Xu, Qiqi Wu, Xiaojuan Tian, Xiaoling Yang, Xiru Wu, Liping Wei, Yuehua Zhang, 2017, Chinese Journal of Pediatrics, 55(11), 818-823. (PMID 29141311)
Ultrasensitive and high-efficiency screen of de novo low-frequency mutations by o2n-seq, Kaile Wang, Shujuan Lai, Xiaoxu Yang, Tianqi Zhu, Xuemei Lu, Chung-I Wu#, Jue Ruan#, 2017, Nature Communications, 8(1), 1-11. (PMID 28530222)
Postzygotic single‐nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations, Yanmei Dou, Xiaoxu Yang, Ziyi Li, Sheng Wang, Zheng Zhang, Adam Yongxin Ye, Linlin Yan, Changhong Yang, Qixi Wu, Jiarui Li, Boxun Zhao, August Yue Huang#, Liping Wei#, 2017, Human Mutation, 38(8), 1002-1013. (Cover Article, PMID 28503910)
MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples, August Yue Huang*, Zheng Zhang*, Adam Yongxin Ye*, Yanmei Dou*, Linlin Yan, Xiaoxu Yang, Yuehua Zhang, Liping Wei, 2017, Nucleic Acids Research, 45(10), e76. (PMID 28132024)
2014“Bioinformatics: introduction and methods,” a bilingual Massive Open Online Course (MOOC) as a new example for global bioinformatics education, Yang Ding, Meng Wang, Yao He, Adam Yongxin Ye, Xiaoxu Yang, Fenglin Liu, Yuqi Meng, Ge Gao#, Liping Wei#, 2014, PLoS Computational Biology, 10(12), e1003955. (PMID 25503717, Course on Coursera)
Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals, August Y Huang*, Xiaojing Xu*, Adam Y Ye*, Qixi Wu*, Linlin Yan, Boxun Zhao, Xiaoxu Yang, Yao He, Sheng Wang, Zheng Zhang, Bowen Gu, Han-Qing Zhao, Meng Wang, Hua Gao, Ge Gao, Zhichao Zhang, Xiaoling Yang, Xiru Wu, Yuehua Zhang#, Liping Wei#, 2014, Cell Research, 24(11), 1311. (Cover Article, PMID 25312340)

COVER STORIES

Page updated

Google Sites

Report abuse