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Elaine T. Lim
Elaine T. Lim
在 umassmed.edu 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
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
20542012
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
18292020
Using whole-exome sequencing to identify inherited causes of autism
WY Timothy, MH Chahrour, ME Coulter, S Jiralerspong, K Okamura-Ikeda, ...
Neuron 77 (2), 259-273, 2013
5252013
Distribution and medical impact of loss-of-function variants in the Finnish founder population
ET Lim, P Würtz, AS Havulinna, P Palta, T Tukiainen, K Rehnström, ...
PLoS genetics 10 (7), e1004494, 2014
4602014
An enhanced CRISPR repressor for targeted mammalian gene regulation
NC Yeo, A Chavez, A Lance-Byrne, Y Chan, D Menn, D Milanova, ...
Nature methods 15 (8), 611-616, 2018
4582018
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders
ET Lim, S Raychaudhuri, SJ Sanders, C Stevens, A Sabo, DG MacArthur, ...
Neuron 77 (2), 235-242, 2013
3062013
Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes
X He, SJ Sanders, L Liu, S De Rubeis, ET Lim, JS Sutcliffe, ...
PLoS genetics 9 (8), e1003671, 2013
2982013
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
ET Lim, M Uddin, S De Rubeis, Y Chan, AS Kamumbu, X Zhang, ...
Nature neuroscience 20 (9), 1217-1224, 2017
2852017
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination
DH Margolin, M Kousi, YM Chan, ET Lim, JD Schmahmann, ...
New England Journal of Medicine 368 (21), 1992-2003, 2013
2492013
The genetic landscape of Diamond-Blackfan anemia
JC Ulirsch, JM Verboon, S Kazerounian, MH Guo, D Yuan, LS Ludwig, ...
The American Journal of Human Genetics 103 (6), 930-947, 2018
2392018
De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder
PJ Hamilton, NG Campbell, S Sharma, K Erreger, F Herborg Hansen, ...
Molecular psychiatry 18 (12), 1315-1323, 2013
2392013
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism
MH Chahrour, TW Yu, ET Lim, B Ataman, ME Coulter, RS Hill, ...
PLoS genetics 8 (4), e1002635, 2012
2332012
REST and neural gene network dysregulation in iPSC models of Alzheimer’s disease
K Meyer, HM Feldman, T Lu, D Drake, ET Lim, KH Ling, NA Bishop, Y Pan, ...
Cell reports 26 (5), 1112-1127. e9, 2019
1912019
DGAT1 mutation is linked to a congenital diarrheal disorder
JT Haas, HS Winter, E Lim, A Kirby, B Blumenstiel, M DeFelice, S Gabriel, ...
The Journal of clinical investigation 122 (12), 4680-4684, 2012
1602012
Engineering adeno-associated viral vectors to evade innate immune and inflammatory responses
YK Chan, SK Wang, CJ Chu, DA Copland, AJ Letizia, H Costa Verdera, ...
Science translational medicine 13 (580), eabd3438, 2021
1562021
Recessive gene disruptions in autism spectrum disorder
RN Doan, ET Lim, S De Rubeis, C Betancur, DJ Cutler, AG Chiocchetti, ...
Nature genetics 51 (7), 1092-1098, 2019
1492019
Identification of function for CD44 intracytoplasmic domain (CD44-ICD): modulation of matrix metalloproteinase 9 (MMP-9) transcription via novel promoter response element
KE Miletti-González, K Murphy, MN Kumaran, AK Ravindranath, ...
Journal of Biological Chemistry 287 (23), 18995-19007, 2012
1382012
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system
JF Staropoli, A Karaa, ET Lim, A Kirby, N Elbalalesy, SG Romansky, ...
The American Journal of Human Genetics 91 (1), 202-208, 2012
1332012
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls
L Liu, A Sabo, BM Neale, U Nagaswamy, C Stevens, E Lim, CA Bodea, ...
PLoS genetics 9 (4), e1003443, 2013
1082013
The ESCRT-III protein CHMP1A mediates secretion of sonic hedgehog on a distinctive subtype of extracellular vesicles
ME Coulter, CM Dorobantu, GA Lodewijk, F Delalande, S Cianferani, ...
Cell reports 24 (4), 973-986. e8, 2018
942018
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