Arthur Beaudet
Arthur Beaudet
Verified email at bcm.edu - Homepage
Title
Cited by
Cited by
Year
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
HT Orr, M Chung, S Banfi, TJ Kwiatkowski, A Servadio, AL Beaudet, ...
Nature genetics 4 (3), 221-226, 1993
18411993
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
Y Yang, DM Muzny, JG Reid, MN Bainbridge, A Willis, PA Ward, ...
New England Journal of Medicine 369 (16), 1502-1511, 2013
17282013
The NIH roadmap epigenomics mapping consortium
BE Bernstein, JA Stamatoyannopoulos, JF Costello, B Ren, ...
Nature biotechnology 28 (10), 1045-1048, 2010
14372010
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
12282011
Molecular findings among patients referred for clinical whole-exome sequencing
Y Yang, DM Muzny, F Xia, Z Niu, R Person, Y Ding, P Ward, A Braxton, ...
Jama 312 (18), 1870-1879, 2014
11012014
Chromosomal microarray versus karyotyping for prenatal diagnosis
RJ Wapner, CL Martin, B Levy, BC Ballif, CM Eng, JM Zachary, M Savage, ...
New England Journal of Medicine 367 (23), 2175-2184, 2012
10242012
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
9252015
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
8771997
Genomic DNA transfer with a high-capacity adenovirus vector results in improved in vivo gene expression and decreased toxicity
G Schiedner, N Morral, RJ Parks, Y Wu, SC Koopmans, C Langston, ...
Nature genetics 18 (2), 180-183, 1998
8311998
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation
Y Jiang, D Armstrong, U Albrecht, CM Atkins, JL Noebels, G Eichele, ...
Neuron 21 (4), 799-811, 1998
7931998
Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report
T Buie, DB Campbell, GJ Fuchs, GT Furuta, J Levy, J VandeWater, ...
Pediatrics 125 (Supplement 1), S1-S18, 2010
7902010
Sequential contribution of L-and P-selectin to leukocyte rolling in vivo.
K Ley, DC Bullard, ML Arbonés, R Bosse, D Vestweber, TF Tedder, ...
The Journal of experimental medicine 181 (2), 669-675, 1995
7301995
Inflammatory and immune responses are impaired in mice deficient in intercellular adhesion molecule 1
JE Sligh, CM Ballantyne, SS Rich, HK Hawkins, CW Smith, A Bradley, ...
Proceedings of the National Academy of Sciences 90 (18), 8529-8533, 1993
6741993
P-Selectin or Intercellular Adhesion Molecule (Icam)-1 Deficiency Substantially Protects against Atherosclerosis in Apolipoprotein E–Deficient Mice
RG Collins, R Velji, NV Guevara, MJ Hicks, L Chan, AL Beaudet
The Journal of experimental medicine 191 (1), 189-194, 2000
6472000
High-throughput discovery of novel developmental phenotypes
ME Dickinson, AM Flenniken, X Ji, L Teboul, MD Wong, JK White, ...
Nature 537 (7621), 508-514, 2016
5752016
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
T Sahoo, D Del Gaudio, JR German, M Shinawi, SU Peters, RE Person, ...
Nature genetics 40 (6), 719-721, 2008
5692008
Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice
CJ Cummings, E Reinstein, Y Sun, B Antalffy, Y Jiang, A Ciechanover, ...
Neuron 24 (4), 879-892, 1999
5661999
Mice deficient in the α7 neuronal nicotinic acetylcholine receptor lack α-bungarotoxin binding sites and hippocampal fast nicotinic currents
A Orr-Urtreger, FM Göldner, M Saeki, I Lorenzo, L Goldberg, M De Biasi, ...
Journal of Neuroscience 17 (23), 9165-9171, 1997
5611997
Angelman syndrome 2005: updated consensus for diagnostic criteria
CA Williams, AL Beaudet, J Clayton‐Smith, JH Knoll, M Kyllerman, ...
American journal of medical genetics Part A 140 (5), 413-418, 2006
5482006
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
U Albrecht, JS Sutcliffe, BM Cattanach, CV Beechey, D Armstrong, ...
Nature genetics 17 (1), 75-78, 1997
5131997
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