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Ryan K.C. Yuen
Ryan K.C. Yuen
Senior Scientist, Hospital for Sick Children
Подтвержден адрес электронной почты в домене sickkids.ca - Главная страница
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Год
Synaptic, transcriptional and chromatin genes disrupted in autism
S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, AE Cicek, ...
Nature 515 (7526), 209-215, 2014
28282014
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ...
Cell 180 (3), 568-584. e23, 2020
18552020
The human splicing code reveals new insights into the genetic determinants of disease
HY Xiong, B Alipanahi, LJ Lee, H Bretschneider, D Merico, RKC Yuen, ...
Science 347 (6218), 1254806, 2015
14422015
The Database of Genomic Variants: a curated collection of structural variation in the human genome
JR MacDonald, R Ziman, RKC Yuen, L Feuk, SW Scherer
Nucleic acids research 42 (D1), D986-D992, 2014
14142014
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
RKC Yuen, D Merico, M Bookman, JL Howe, B Thiruvahindrapuram, ...
Nature Neuroscience 20 (4), 602-611, 2017
8002017
Whole-genome sequencing of quartet families with autism spectrum disorder
RKC Yuen, B Thiruvahindrapuram, D Merico, S Walker, K Tammimies, ...
Nature medicine 21 (2), 185-191, 2015
5952015
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
Y Jiang, RKC Yuen, X Jin, M Wang, N Chen, X Wu, J Ju, J Mei, Y Shi, ...
The American Journal of Human Genetics 93 (2), 249-263, 2013
5492013
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
K Tammimies, CR Marshall, S Walker, G Kaur, B Thiruvahindrapuram, ...
JAMA 314 (9), 895-903, 2015
4362015
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
DJ Stavropoulos, D Merico, R Jobling, S Bowdin, N Monfared, ...
npj Genomic Medicine 1, 15012, 2016
3812016
DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia
RKC Yuen, MS Peñaherrera, P Von Dadelszen, DE McFadden, ...
European Journal of Human Genetics 18 (9), 1006-1012, 2010
2572010
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins, S Dong, B Wamsley, ...
Nature genetics 54 (9), 1320-1331, 2022
2562022
Genome-wide characteristics of de novo mutations in autism
RKC Yuen, D Merico, H Cao, G Pellecchia, B Alipanahi, ...
npj Genomic Medicine 1, 16027, 2016
2422016
Widespread DNA hypomethylation at gene enhancer regions in placentas associated with early-onset pre-eclampsia
JD Blair, RKC Yuen, BK Lim, DE McFadden, P von Dadelszen, ...
Molecular human reproduction 19 (10), 697-708, 2013
2312013
Hypermethylation of RASSF1A in human and rhesus placentas
RWK Chiu, SSC Chim, IHN Wong, CSC Wong, WS Lee, KF To, JHM Tong, ...
The American journal of pathology 170 (3), 941, 2007
2262007
Evidence for widespread changes in promoter methylation profile in human placenta in response to increasing gestational age and environmental/stochastic factors
B Novakovic, RK Yuen, L Gordon, MS Penaherrera, A Sharkey, A Moffett, ...
BMC genomics 12 (1), 529, 2011
2072011
The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders
JD Buxbaum, MJ Daly, B Devlin, T Lehner, K Roeder
Neuron 76 (6), 1052-1056, 2012
1942012
Genome-wide detection of tandem DNA repeats that are expanded in autism
B Trost, W Engchuan, CM Nguyen, B Thiruvahindrapuram, E Dolzhenko, ...
Nature 586 (7827), 80-86, 2020
1802020
Disruption of the ASTN2/TRIM32 locus at 9q33. 1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
AC Lionel, K Tammimies, AK Vaags, JA Rosenfeld, JW Ahn, D Merico, ...
Human molecular genetics 23 (10), 2752-2768, 2014
1802014
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data
B Trost, S Walker, Z Wang, B Thiruvahindrapuram, JR MacDonald, ...
The American Journal of Human Genetics 102 (1), 142-155, 2018
1772018
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
M Uddin, K Tammimies, G Pellecchia, B Alipanahi, P Hu, Z Wang, D Pinto, ...
Nature genetics 46 (7), 742-747, 2014
1762014
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