The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications
Gillentine, M. A., Berry, L. N., Goin-Kochel, R. P., Ali, M. A., Ge, J., Guffey, D., Rosenfeld, J. A., Hannig, V., Bader, P., Proud, M., Shinawi, M., Graham, B. H., Lin, A., Lalani, S. R., Reynolds, J., Chen, M., Grebe, T., Minard, C. G., Stankiewicz, P., Beaudet, A. L., Schaaf, C. P.
Published in Journal of autism and developmental disorders (01.03.2017)
Published in Journal of autism and developmental disorders (01.03.2017)
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Journal Article
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
Ben-Shachar, S, Lanpher, B, German, J R, Qasaymeh, M, Potocki, L, Nagamani, S C Sreenath, Franco, L M, Malphrus, A, Bottenfield, G W, Spence, J E, Amato, S, Rousseau, J A, Moghaddam, B, Skinner, C, Skinner, S A, Bernes, S, Armstrong, N, Shinawi, M, Stankiewicz, P, Patel, A, Cheung, S-W, Lupski, J R, Beaudet, A L, Sahoo, T
Published in Journal of medical genetics (01.06.2009)
Published in Journal of medical genetics (01.06.2009)
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Identification of incestuous parental relationships by SNP-based DNA microarrays
Schaaf, CP, Scott, DA, Wiszniewska, J, Beaudet, AL
Published in The Lancet (British edition) (12.02.2011)
Published in The Lancet (British edition) (12.02.2011)
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22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH
Dhar, S.U., del Gaudio, D., German, J.R., Peters, S.U., Ou, Z., Bader, P.I., Berg, J.S., Blazo, M., Brown, C.W., Graham, B.H., Grebe, T.A., Lalani, S., Irons, M., Sparagana, S., Williams, M., Phillips III, J.A., Beaudet, A.L., Stankiewicz, P., Patel, A., Cheung, S.W., Sahoo, T.
Published in American journal of medical genetics. Part A (01.03.2010)
Published in American journal of medical genetics. Part A (01.03.2010)
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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
Nambot, S., Gavrilov, D., Thevenon, J., Bruel, A.L., Bainbridge, M., Rio, M., Goizet, C., Rötig, A., Jaeken, J., Niu, N., Xia, F., Vital, A., Houcinat, N., Mochel, F., Kuentz, P., Lehalle, D., Duffourd, Y., Rivière, J.B., Thauvin‐Robinet, C., Beaudet, A.L., Faivre, L.
Published in Clinical genetics (01.08.2017)
Published in Clinical genetics (01.08.2017)
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The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology
Dindot, Scott V., Antalffy, Barbara A., Bhattacharjee, Meenakshi B., Beaudet, Arthur L.
Published in Human molecular genetics (01.01.2008)
Published in Human molecular genetics (01.01.2008)
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Genomic DNA transfer with a high-capacity adenovirus vector results in improved in vivo gene expression and decreased toxicity
Schiedner, Gudrun, Morral, Núria, Parks, Robin J, Wu, Ying, Koopmans, Suzanne C, Langston, Claire, Graham, Frank L, Beaudet, Arthur L, Kochanek, Stefan
Published in Nature genetics (01.02.1998)
Published in Nature genetics (01.02.1998)
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Paternal Deletion from Snrpn to Ube3a in the Mouse Causes Hypotonia, Growth Retardation and Partial Lethality and Provides Evidence for a Gene Contributing to Prader-Willi Syndrome
Tsai, Ting-Fen, Jiang, Yong-hui, Bressler, Jan, Armstrong, Dawna, Beaudet, Arthur L.
Published in Human molecular genetics (01.08.1999)
Published in Human molecular genetics (01.08.1999)
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Mice Lacking Specific Nicotinic Acetylcholine Receptor Subunits Exhibit Dramatically Altered Spontaneous Activity Patterns and Reveal a Limited Role for Retinal Waves in Forming ON and OFF Circuits in the Inner Retina
Bansal, Anu, Singer, Joshua H, Hwang, Bryan J, Xu, Wei, Beaudet, Art, Feller, Marla B
Published in The Journal of neuroscience (15.10.2000)
Published in The Journal of neuroscience (15.10.2000)
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De novo truncating mutations in E6-AP ubiquitin-protein ligase gene ( UBE3A ) in Angelman syndrome
Matsuura, Toshinobu, Sutcliffe, James S, Fang, Ping, Galjaard, Robert-Jan, Jiang, Yong-hui, Benton, Claudia S, Rommens, Johanna M, Beaudet, Arthur L
Published in Nature genetics (01.01.1997)
Published in Nature genetics (01.01.1997)
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Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations
Sahoo, T, Peters, S U, Madduri, N S, Glaze, D G, German, J R, Bird, L M, Barbieri-Welge, R, Bichell, T J, Beaudet, A L, Bacino, C A
Published in Journal of medical genetics (01.06.2006)
Published in Journal of medical genetics (01.06.2006)
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Journal Article
Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications
Gillentine, M. A., Berry, L. N., Goin-Kochel, R. P., Ali, M. A., Ge, J., Guffey, D., Rosenfeld, J. A., Hannig, V., Bader, P., Proud, M., Shinawi, M., Graham, B. H., Lin, A., Lalani, S. R., Reynolds, J., Chen, M., Grebe, T., Minard, C. G., Stankiewicz, P., Beaudet, A. L., Schaaf, C. P.
Published in Journal of autism and developmental disorders (01.03.2017)
Published in Journal of autism and developmental disorders (01.03.2017)
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Journal Article