Suivre
August Yue Huang
August Yue Huang
Principal Investigator, Boston Children's Hospital and Harvard Medical School
Adresse e-mail validée de childrens.harvard.edu - Page d'accueil
Titre
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Citée par
Année
Somatic MAP2K1 mutations are associated with extracranial arteriovenous malformation
JA Couto, AY Huang, DJ Konczyk, JA Goss, SJ Fishman, JB Mulliken, ...
The American Journal of Human Genetics 100 (3), 546-554, 2017
2412017
Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma
UM Ayturk, JA Couto, S Hann, JB Mulliken, KL Williams, AY Huang, ...
The American Journal of Human Genetics 98 (4), 789-795, 2016
2052016
AutismKB: an evidence-based knowledgebase of autism genetics
LM Xu, JR Li, Y Huang, M Zhao, X Tang, L Wei
Nucleic Acids Research 40 (D1), D1016-D1022, 2011
2052011
Amplicon resequencing identified parental mosaicism for approximately 10% of “de novo” SCN1A mutations in children with Dravet syndrome
X Xu, X Yang, Q Wu, A Liu, X Yang, AY Ye, AY Huang, J Li, M Wang, Z Yu, ...
Human Mutation 36 (9), 861-872, 2015
1232015
A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth
JA Couto, UM Ayturk, DJ Konczyk, JA Goss, AY Huang, S Hann, JL Reeve, ...
Angiogenesis 20 (3), 303-306, 2017
1132017
Somatic genomic changes in single Alzheimer’s disease neurons
MB Miller, AY Huang, J Kim, Z Zhou, SL Kirkham, EA Maury, ...
Nature 604 (7907), 714-722, 2022
1122022
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
RE Rodin, Y Dou, M Kwon, MA Sherman, AM D’Gama, RN Doan, ...
Nature Neuroscience 24 (2), 176-185, 2021
862021
Post‐zygotic single‐nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations
Y Dou, X Yang, Z Li, S Wang, Z Zhang, AY Ye, L Yan, C Yang, Q Wu, J Li, ...
Human Mutation 38 (8), 1002-1013, 2017
842017
Profiling the RNA editomes of wild-type C. elegans and ADAR mutants
HQ Zhao, P Zhang, H Gao, X He, Y Dou, AY Huang, XM Liu, AY Ye, ...
Genome Research 25 (1), 66-75, 2015
832015
Landmarks of human embryonic development inscribed in somatic mutations
S Bizzotto, Y Dou, J Ganz, RN Doan, M Kwon, CL Bohrson, SN Kim, ...
Science 371 (6535), 1249-1253, 2021
762021
MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples
AY Huang, Z Zhang, AY Ye, Y Dou, L Yan, X Yang, Y Zhang, L Wei
Nucleic Acids Research 45 (10), e76-e76, 2017
652017
Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals
AY Huang, X Xu, AY Ye, Q Wu, L Yan, B Zhao, X Yang, Y He, S Wang, ...
Cell Research 24 (11), 1311-1327, 2014
652014
Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals
B Zhao, Q Wu, AY Ye, J Guo, X Zheng, X Yang, L Yan, QR Liu, TM Hyde, ...
PLoS Genetics 15 (4), e1008043, 2019
622019
Somatic mutations in intracranial arteriovenous malformations
JA Goss, AY Huang, E Smith, DJ Konczyk, PJ Smits, CL Sudduth, ...
PLoS ONE 14 (12), e0226852, 2019
602019
Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort
X Yang, A Liu, X Xu, X Yang, Q Zeng, AY Ye, Z Yu, S Wang, AY Huang, ...
Scientific Reports 7, 15677, 2017
522017
AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder
C Yang, J Li, Q Wu, X Yang, AY Huang, J Zhang, AY Ye, Y Dou, L Yan, ...
Database 2018, bay106, 2018
512018
Utility of quantitative micro-computed tomographic analysis in zebrafish to define gene function during skeletogenesis
JF Charles, M Sury, K Tsang, K Urso, K Henke, Y Huang, R Russell, ...
Bone 101, 162-171, 2017
442017
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
C Chung, X Yang, T Bae, KI Vong, S Mittal, C Donkels, H Westley Phillips, ...
Nature Genetics 55 (2), 209-220, 2023
382023
Parallel RNA and DNA analysis after Deep-sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain
AY Huang, P Li, RE Rodin, SN Kim, Y Dou, CJ Kenny, SK Akula, ...
Proceedings of the National Academy of Sciences 117 (25), 13886-13895, 2020
362020
Comprehensive identification of somatic nucleotide variants in human brain tissue
Y Wang, T Bae, J Thorpe, MA Sherman, AG Jones, S Cho, K Daily, Y Dou, ...
Genome Biology 22 (1), 1-32, 2021
342021
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