August Yue Huang
August Yue Huang
Boston Children's Hospital & Harvard Medical School
Dirección de correo verificada de childrens.harvard.edu - Página principal
TítuloCitado porAño
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
1562011
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
752016
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
562017
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
522015
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
512015
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
402017
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
352014
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
222017
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
192017
Identification of EFHD1 as a novel Ca 2+ sensor for mitoflash activation
T Hou, C Jian, J Xu, AY Huang, J Xi, K Hu, L Wei, H Cheng, X Wang
Cell Calcium 59 (5), 262-270, 2016
132016
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
122017
Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs
AY Huang, X Yang, S Wang, X Zheng, Q Wu, AY Ye, L Wei
PLoS Genetics 14 (5), e1007395, 2018
92018
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
92017
Recent adaptive events in human brain revealed by meta-analysis of positively selected genes
Y Huang, C Xie, AY Ye, CY Li, G Gao, L Wei
PLoS ONE 8 (4), e61280, 2013
92013
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
72019
Confocal imaging of mouse mandibular condyle cartilage
Y He, M Zhang, AY Huang, Y Cui, D Bai, ML Warman
Scientific Reports 7, 43848, 2017
62017
Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS)
ME Michel, DJ Konczyk, KS Yeung, R Murillo, MP Vivero, AM Hall, ...
Clinical Genetics 93 (5), 1075-1080, 2018
52018
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, 2018
32018
A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations
AY Ye, Y Dou, X Yang, S Wang, AY Huang, L Wei
Genome Research 28 (7), 943-951, 2018
22018
Arteriovenous malformation associated with a HRAS mutation
DJ Konczyk, JA Goss, PJ Smits, AY Huang, A Al-Ibraheemi, CL Sudduth, ...
Human Genetics, 1-3, 2019
2019
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20