Year |
Citation |
Score |
2024 |
D'Gama AM, Phillips HW, Wang Y, Chiu MY, Chahine Y, Swanson AC, Smith RS, Pearl PL, Tsuboyama M, Madsen JR, Lidov H, Lee EA, Prabhu SP, Huang AY, Stone SSD, et al. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. Medrxiv : the Preprint Server For Health Sciences. PMID 39108522 DOI: 10.1101/2024.07.21.24310779 |
0.733 |
|
2024 |
McDonough GA, Cheng Y, Morillo KS, Doan RN, Zhou Z, Kenny CJ, Foutz A, Kim C, Cohen ML, Appleby BS, Walsh CA, Safar JG, Huang AY, Miller MB. Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease. Acta Neuropathologica. 148: 10. PMID 39048735 DOI: 10.1007/s00401-024-02774-2 |
0.623 |
|
2024 |
McDonough GA, Cheng Y, Morillo K, Doan RN, Kenny CJ, Foutz A, Kim C, Cohen ML, Appleby BS, Walsh CA, Safar JG, Huang AY, Miller MB. Neuropathologically-directed profiling of somatic and germline variants in sporadic human prion disease. Biorxiv : the Preprint Server For Biology. PMID 38979287 DOI: 10.1101/2024.06.25.600668 |
0.656 |
|
2024 |
Choudhury S, Sivankutty I, Jung Y, Huang A, Araten S, Kenny C, An Z, Doan R, Foijer F, Matsu E, Rosen I, Marciano J, Jain A, Sun L, Hilal N, et al. Single-nucleus multi-omic profiling of polyploid heart nuclei identifies fusion-derived cardiomyocytes in the human heart. Research Square. PMID 38853931 DOI: 10.21203/rs.3.rs-4414468/v1 |
0.441 |
|
2024 |
Huang AY, Zhou Z, Talukdar M, Miller MB, Chhouk B, Enyenihi L, Rosen I, Stronge E, Zhao B, Kim D, Choi J, Khoshkhoo S, Kim J, Ganz J, Travaglini K, et al. Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia. Biorxiv : the Preprint Server For Biology. PMID 38260600 DOI: 10.1101/2024.01.03.574078 |
0.762 |
|
2023 |
Phillips HW, D'Gama AM, Wang Y, Chahine Y, Chiu M, Swanson AC, Ahtam B, Bolton JB, Madsen JR, Lee EA, Prabhu SP, Lidov HG, Papadakis J, Huang AY, Poduri A, et al. Somatic Mosaicism in Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology. Neurology. Genetics. 10: e200117. PMID 38149038 DOI: 10.1212/NXG.0000000000200117 |
0.715 |
|
2023 |
Zhou Z, Kim J, Huang AY, Nolan M, Park J, Doan R, Shin T, Miller MB, Chhouk B, Morillo K, Yeh RC, Kenny C, Neil JE, Lee CZ, Ohkubo T, et al. Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations. Biorxiv : the Preprint Server For Biology. PMID 38077003 DOI: 10.1101/2023.11.30.569436 |
0.708 |
|
2023 |
Kim SN, Viswanadham VV, Doan RN, Dou Y, Bizzotto S, Khoshkhoo S, Huang AY, Yeh R, Chhouk B, Truong A, Chappell KM, Beaudin M, Barton A, Akula SK, Rento L, et al. Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex. Biorxiv : the Preprint Server For Biology. PMID 37986891 DOI: 10.1101/2023.11.06.565899 |
0.769 |
|
2023 |
Khoshkhoo S, Wang Y, Chahine Y, Erson-Omay EZ, Robert SM, Kiziltug E, Damisah EC, Nelson-Williams C, Zhu G, Kong W, Huang AY, Stronge E, Phillips HW, Chhouk BH, Bizzotto S, et al. Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. Jama Neurology. PMID 37126322 DOI: 10.1001/jamaneurol.2023.0473 |
0.372 |
|
2022 |
Kim J, Huang AY, Johnson SL, Lai J, Isacco L, Jeffries AM, Miller MB, Lodato MA, Walsh CA, Lee EA. Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders. Nature Communications. 13: 5918. PMID 36207339 DOI: 10.1038/s41467-022-33642-w |
0.815 |
|
2022 |
Choudhury S, Huang AY, Kim J, Zhou Z, Morillo K, Maury EA, Tsai JW, Miller MB, Lodato MA, Araten S, Hilal N, Lee EA, Chen MH, Walsh CA. Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity. Nature Aging. 2: 714-725. PMID 36051457 DOI: 10.1038/s43587-022-00261-5 |
0.809 |
|
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, ... ... Huang AY, 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 |
0.763 |
|
2022 |
Huang AY, Lee EA. Identification of Somatic Mutations From Bulk and Single-Cell Sequencing Data. Frontiers in Aging. 2: 800380. PMID 35822012 DOI: 10.3389/fragi.2021.800380 |
0.578 |
|
2022 |
Miller MB, Huang AY, Kim J, Zhou Z, Kirkham SL, Maury EA, Ziegenfuss JS, Reed HC, Neil JE, Rento L, Ryu SC, Ma CC, Luquette LJ, Ames HM, Oakley DH, et al. Somatic genomic changes in single Alzheimer's disease neurons. Nature. PMID 35444284 DOI: 10.1038/s41586-022-04640-1 |
0.776 |
|
2021 |
Doan RN, Miller MB, Kim SN, Rodin RE, Ganz J, Bizzotto S, Morillo KS, Huang AY, Digumarthy R, Zemmel Z, Walsh CA. MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations. Bmc Medical Genomics. 14: 47. PMID 33579278 DOI: 10.1186/s12920-021-00893-3 |
0.737 |
|
2020 |
Kim J, Zhao B, Huang AY, Miller MB, Lodato MA, Walsh CA, Lee EA. APP gene copy number changes reflect exogenous contamination. Nature. 584: E20-E28. PMID 32814883 DOI: 10.1038/S41586-020-2522-3 |
0.749 |
|
2020 |
Huang AY, Li P, Rodin RE, Kim SN, Dou Y, Kenny CJ, Akula SK, Hodge RD, Bakken TE, Miller JA, Lein ES, Park PJ, Lee EA, Walsh CA. Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain. Proceedings of the National Academy of Sciences of the United States of America. PMID 32522880 DOI: 10.1073/Pnas.2006163117 |
0.791 |
|
2019 |
Goss JA, Huang AY, Smith E, Konczyk DJ, Smits PJ, Sudduth CL, Stapleton C, Patel A, Alexandrescu S, Warman ML, Greene AK. Somatic mutations in intracranial arteriovenous malformations. Plos One. 14: e0226852. PMID 31891627 DOI: 10.1371/Journal.Pone.0226852 |
0.652 |
|
2019 |
Konczyk DJ, Goss JA, Smits PJ, Huang AY, Al-Ibraheemi A, Sudduth CL, Warman ML, Greene AK. Arteriovenous malformation associated with a HRAS mutation. Human Genetics. PMID 31637524 DOI: 10.1007/S00439-019-02072-Y |
0.661 |
|
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 |
0.8 |
|
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 |
0.796 |
|
2018 |
Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, ... ... Huang AY, et al. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Cell Reports. 25: 3544. PMID 30566877 DOI: 10.1016/j.celrep.2018.12.024 |
0.718 |
|
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 |
0.76 |
|
2018 |
Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, ... ... Huang AY, et al. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Cell Reports. 24: 3441-3454.e12. PMID 30257206 DOI: 10.1016/J.Celrep.2018.08.082 |
0.664 |
|
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 |
0.803 |
|
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 |
0.807 |
|
2017 |
Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung BHY, Warman ML. Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS). Clinical Genetics. PMID 29231959 DOI: 10.1111/Cge.13195 |
0.656 |
|
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 |
0.798 |
|
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 |
0.775 |
|
2017 |
Willsey AJ, Fernandez TV, Yu D, King RA, Dietrich A, Xing J, Sanders SJ, Mandell JD, Huang AY, Richer P, Smith L, Dong S, Samocha KE, et al. De Novo Coding Variants Are Strongly Associated with Tourette Disorder. Neuron. 94: 486-499.e9. PMID 28472652 DOI: 10.1016/J.Neuron.2017.04.024 |
0.615 |
|
2017 |
He Y, Zhang M, Huang AY, Cui Y, Bai D, Warman ML. Confocal imaging of mouse mandibular condyle cartilage. Scientific Reports. 7: 43848. PMID 28266618 DOI: 10.1038/Srep43848 |
0.507 |
|
2017 |
Couto JA, Huang AY, Konczyk DJ, Goss JA, Fishman SJ, Mulliken JB, Warman ML, Greene AK. Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation. American Journal of Human Genetics. PMID 28190454 DOI: 10.1016/J.Ajhg.2017.01.018 |
0.647 |
|
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 |
0.797 |
|
2017 |
Couto JA, Ayturk UM, Konczyk DJ, Goss JA, Huang AY, Hann S, Reeve JL, Liang MG, Bischoff J, Warman ML, Greene AK. A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth. Angiogenesis. PMID 28120216 DOI: 10.1007/S10456-016-9538-1 |
0.646 |
|
2017 |
Couto JA, Ayturk UM, Konczyk DJ, Goss JA, Huang AY, Hann S, Reeve JL, Liang MG, Bischoff J, Warman ML, Greene AK. Abstract 135 Plastic and Reconstructive Surgery - Global Open. 5: 99-100. DOI: 10.1097/01.Gox.0000516654.69082.Be |
0.468 |
|
2016 |
Ayturk UM, Couto JA, Hann S, Mulliken JB, Williams KL, Huang AY, Fishman SJ, Boyd TK, Kozakewich HP, Bischoff J, Greene AK, Warman ML. Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. American Journal of Human Genetics. 98: 1271. PMID 27259057 DOI: 10.1016/J.Ajhg.2016.05.010 |
0.661 |
|
2016 |
Ayturk UM, Couto JA, Hann S, Mulliken JB, Williams KL, Huang AY, Fishman SJ, Boyd TK, Kozakewich HP, Bischoff J, Greene AK, Warman ML. Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. American Journal of Human Genetics. 98: 789-95. PMID 27058448 DOI: 10.1016/j.ajhg.2016.03.009 |
0.623 |
|
2016 |
Hou T, Jian C, Xu J, Huang AY, Xi J, Hu K, Wei L, Cheng H, Wang X. Identification of EFHD1 as a novel Ca(2+) sensor for mitoflash activation. Cell Calcium. PMID 26975899 DOI: 10.1016/J.Ceca.2016.03.002 |
0.471 |
|
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 |
0.807 |
|
2015 |
Zhao HQ, Zhang P, Gao H, He X, Dou Y, Huang AY, Liu XM, Ye AY, Dong MQ, Wei L. Profiling the RNA editomes of wild-type C. elegans and ADAR mutants. Genome Research. 25: 66-75. PMID 25373143 DOI: 10.1101/Gr.176107.114 |
0.746 |
|
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, 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 |
0.808 |
|
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