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James S Sutcliffe
James S Sutcliffe
Associate Professor, Vanderbilt University
Potvrđena adresa e-pošte na vanderbilt.edu - Početna stranica
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Citirano
Citirano
Godina
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
AJMH Verkerk, M Pieretti, JS Sutcliffe, YH Fu, DPA Kuhl, A Pizzuti, ...
Cell 65 (5), 905-914, 1991
42341991
Strong association of de novo copy number mutations with autism
J Sebat, B Lakshmi, D Malhotra, J Troge, C Lese-Martin, T Walsh, ...
Science 316 (5823), 445-449, 2007
34462007
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis
Cross-Disorder Group of the Psychiatric Genomics Consortium
The Lancet 381 (9875), 1371-1379, 2013
30132013
Synaptic, transcriptional and chromatin genes disrupted in autism
S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, ...
Nature 515 (7526), 209-215, 2014
27942014
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox
YH Fu, DPA Kuhl, A Pizzuti, M Pieretti, JS Sutcliffe, S Richards, ...
Cell 67 (6), 1047-1058, 1991
25911991
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
B Devlin, JR Kelsoe, P Sklar, MJ Daly, MC O'Donovan, N Craddock, ...
Nature genetics 45 (9), 984-994, 2013
23512013
Functional impact of global rare copy number variation in autism spectrum disorders
D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ...
Nature 466 (7304), 368-372, 2010
23202010
Patterns and rates of exonic de novo mutations in autism spectrum disorders
BM Neale, Y Kou, L Liu, A Ma’Ayan, KE Samocha, A Sabo, CF Lin, ...
Nature 485 (7397), 242-245, 2012
20362012
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
17662020
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Nature genetics 39 (3), 319-328, 2007
16552007
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
JT Glessner, K Wang, G Cai, O Korvatska, CE Kim, S Wood, H Zhang, ...
Nature 459 (7246), 569-573, 2009
16062009
Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism
SJ Sanders, AG Ercan-Sencicek, V Hus, R Luo, MT Murtha, ...
Neuron 70 (5), 863-885, 2011
14842011
Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci
SJ Sanders, X He, AJ Willsey, AG Ercan-Sencicek, KE Samocha, ...
Neuron 87 (6), 1215-1233, 2015
14832015
Common genetic variants on 5p14. 1 associate with autism spectrum disorders
K Wang, H Zhang, D Ma, M Bucan, JT Glessner, BS Abrahams, ...
Nature 459 (7246), 528-533, 2009
11352009
A framework for the interpretation of de novo mutation in human disease
KE Samocha, EB Robinson, SJ Sanders, C Stevens, A Sabo, LM McGrath, ...
Nature genetics 46 (9), 944-950, 2014
10902014
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
D Pinto, E Delaby, D Merico, M Barbosa, A Merikangas, L Klei, ...
The American Journal of Human Genetics 94 (5), 677-694, 2014
10832014
Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders
PH Lee, V Anttila, H Won, YCA Feng, J Rosenthal, Z Zhu, EM Tucker-Drob, ...
Cell 179 (7), 1469-1482. e11, 2019
10692019
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
T Matsuura, JS Sutcliffe, P Fang, RJ Galjaard, Y Jiang, CS Benton, ...
Nature genetics 15 (1), 74-77, 1997
10251997
DNA methylation represses FMR-1 transcription in fragile X syndrome
JS Sutcliffe, DL Nelson, F Zhang, M Pieretti, CT Caskey, D Saxe, ...
Human molecular genetics 1 (6), 397-400, 1992
8501992
Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes
HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ...
New England Journal of Medicine 359 (16), 1685-1699, 2008
8442008
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