Takip et
Ryan K.C. Yuen
Ryan K.C. Yuen
Senior Scientist, Hospital for Sick Children
sickkids.ca üzerinde doğrulanmış e-posta adresine sahip - Ana Sayfa
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
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
29452014
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
20282020
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
14852015
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
14602014
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
8372017
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
6232015
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
5522013
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
4602015
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
3982016
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
3482022
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
2652010
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
2532016
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
2322013
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
2282007
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
2162011
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
2002020
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease
GEB Wright, JA Collins, C Kay, C McDonald, E Dolzhenko, Q Xia, ...
The American Journal of Human Genetics 104 (6), 1116-1126, 2019
1992019
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
1962012
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
1902018
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
1892014
Sistem, işlemi şu anda gerçekleştiremiyor. Daha sonra yeniden deneyin.
Makaleler 1–20