Towards a therapy for Angelman syndrome by targeting a long non-coding RNA
Meng, Linyan, Ward, Amanda J, Chun, Seung, Bennett, C Frank, Beaudet, Arthur L, Rigo, Frank
Published in Nature (London) (19.02.2015)
Published in Nature (London) (19.02.2015)
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Journal Article
Using fetal cells for prenatal diagnosis: History and recent progress
Beaudet, Arthur L.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2016)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2016)
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Journal Article
Epigenetics and Human Disease
Zoghbi, Huda Y, Beaudet, Arthur L
Published in Cold Spring Harbor perspectives in biology (01.02.2016)
Published in Cold Spring Harbor perspectives in biology (01.02.2016)
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Journal Article
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yang, Yaping, Muzny, Donna M, Xia, Fan, Niu, Zhiyv, Person, Richard, Ding, Yan, Ward, Patricia, Braxton, Alicia, Wang, Min, Buhay, Christian, Veeraraghavan, Narayanan, Hawes, Alicia, Chiang, Theodore, Leduc, Magalie, Beuten, Joke, Zhang, Jing, He, Weimin, Scull, Jennifer, Willis, Alecia, Landsverk, Megan, Craigen, William J, Bekheirnia, Mir Reza, Stray-Pedersen, Asbjorg, Liu, Pengfei, Wen, Shu, Alcaraz, Wendy, Cui, Hong, Walkiewicz, Magdalena, Reid, Jeffrey, Bainbridge, Matthew, Patel, Ankita, Boerwinkle, Eric, Beaudet, Arthur L, Lupski, James R, Plon, Sharon E, Gibbs, Richard A, Eng, Christine M
Published in JAMA : the journal of the American Medical Association (12.11.2014)
Published in JAMA : the journal of the American Medical Association (12.11.2014)
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Journal Article
Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a
LINYAN MENG, PERSON, Richard E, BEAUDET, Arthur L
Published in Human molecular genetics (01.07.2012)
Published in Human molecular genetics (01.07.2012)
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Journal Article
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium
Meehan, Terrence F, Conte, Nathalie, West, David B, Jacobsen, Julius O, Mason, Jeremy, Warren, Jonathan, Chen, Chao-Kung, Tudose, Ilinca, Relac, Mike, Matthews, Peter, Karp, Natasha, Santos, Luis, Fiegel, Tanja, Ring, Natalie, Westerberg, Henrik, Greenaway, Simon, Sneddon, Duncan, Morgan, Hugh, Codner, Gemma F, Stewart, Michelle E, Brown, James, Horner, Neil, Haendel, Melissa, Washington, Nicole, Mungall, Christopher J, Reynolds, Corey L, Gallegos, Juan, Gailus-Durner, Valerie, Sorg, Tania, Pavlovic, Guillaume, Bower, Lynette R, Moore, Mark, Morse, Iva, Gao, Xiang, Tocchini-Valentini, Glauco P, Obata, Yuichi, Cho, Soo Young, Seong, Je Kyung, Seavitt, John, Beaudet, Arthur L, Dickinson, Mary E, Herault, Yann, Wurst, Wolfgang, de Angelis, Martin Hrabe, Lloyd, K C Kent, Flenniken, Ann M, Nutter, Lauryl M J, Newbigging, Susan, McKerlie, Colin, Justice, Monica J, Murray, Stephen A, Svenson, Karen L, Braun, Robert E, White, Jacqueline K, Bradley, Allan, Flicek, Paul, Wells, Sara, Skarnes, William C, Adams, David J, Parkinson, Helen, Mallon, Ann-Marie, Brown, Steve D M, Smedley, Damian
Published in Nature genetics (01.08.2017)
Published in Nature genetics (01.08.2017)
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Posey, Jennifer E, Harel, Tamar, Liu, Pengfei, Rosenfeld, Jill A, James, Regis A, Coban Akdemir, Zeynep H, Walkiewicz, Magdalena, Bi, Weimin, Xiao, Rui, Ding, Yan, Xia, Fan, Beaudet, Arthur L, Muzny, Donna M, Gibbs, Richard A, Boerwinkle, Eric, Eng, Christine M, Sutton, V. Reid, Shaw, Chad A, Plon, Sharon E, Yang, Yaping, Lupski, James R
Published in The New England journal of medicine (05.01.2017)
Published in The New England journal of medicine (05.01.2017)
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Journal Article
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
Sanders, Stephan J., Ercan-Sencicek, A. Gulhan, Hus, Vanessa, Luo, Rui, Murtha, Michael T., Moreno-De-Luca, Daniel, Chu, Su H., Moreau, Michael P., Gupta, Abha R., Thomson, Susanne A., Mason, Christopher E., Bilguvar, Kaya, Celestino-Soper, Patricia B.S., Choi, Murim, Crawford, Emily L., Davis, Lea, Davis Wright, Nicole R., Dhodapkar, Rahul M., DiCola, Michael, DiLullo, Nicholas M., Fernandez, Thomas V., Fielding-Singh, Vikram, Fishman, Daniel O., Frahm, Stephanie, Garagaloyan, Rouben, Goh, Gerald S., Kammela, Sindhuja, Klei, Lambertus, Lowe, Jennifer K., Lund, Sabata C., McGrew, Anna D., Meyer, Kyle A., Moffat, William J., Murdoch, John D., O'Roak, Brian J., Ober, Gordon T., Pottenger, Rebecca S., Raubeson, Melanie J., Song, Youeun, Wang, Qi, Yaspan, Brian L., Yu, Timothy W., Yurkiewicz, Ilana R., Beaudet, Arthur L., Cantor, Rita M., Curland, Martin, Grice, Dorothy E., Günel, Murat, Lifton, Richard P., Mane, Shrikant M., Martin, Donna M., Shaw, Chad A., Sheldon, Michael, Tischfield, Jay A., Walsh, Christopher A., Morrow, Eric M., Ledbetter, David H., Fombonne, Eric, Lord, Catherine, Martin, Christa Lese, Brooks, Andrew I., Sutcliffe, James S., Cook, Edwin H., Geschwind, Daniel, Roeder, Kathryn, Devlin, Bernie, State, Matthew W.
Published in Neuron (Cambridge, Mass.) (09.06.2011)
Published in Neuron (Cambridge, Mass.) (09.06.2011)
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Journal Article
Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
Wapner, Ronald J, Martin, Christa Lese, Levy, Brynn, Ballif, Blake C, Eng, Christine M, Zachary, Julia M, Savage, Melissa, Platt, Lawrence D, Saltzman, Daniel, Grobman, William A, Klugman, Susan, Scholl, Thomas, Simpson, Joe Leigh, McCall, Kimberly, Aggarwal, Vimla S, Bunke, Brian, Nahum, Odelia, Patel, Ankita, Lamb, Allen N, Thom, Elizabeth A, Beaudet, Arthur L, Ledbetter, David H, Shaffer, Lisa G, Jackson, Laird
Published in The New England journal of medicine (06.12.2012)
Published in The New England journal of medicine (06.12.2012)
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Journal Article
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Yang, Yaping, Muzny, Donna M, Reid, Jeffrey G, Bainbridge, Matthew N, Willis, Alecia, Ward, Patricia A, Braxton, Alicia, Beuten, Joke, Xia, Fan, Niu, Zhiyv, Hardison, Matthew, Person, Richard, Bekheirnia, Mir Reza, Leduc, Magalie S, Kirby, Amelia, Pham, Peter, Scull, Jennifer, Wang, Min, Ding, Yan, Plon, Sharon E, Lupski, James R, Beaudet, Arthur L, Gibbs, Richard A, Eng, Christine M
Published in The New England journal of medicine (17.10.2013)
Published in The New England journal of medicine (17.10.2013)
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Journal Article
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
Schaaf, Christian P, Gonzalez-Garay, Manuel L, Xia, Fan, Potocki, Lorraine, Gripp, Karen W, Zhang, Baili, Peters, Brock A, McElwain, Mark A, Drmanac, Radoje, Beaudet, Arthur L, Caskey, C Thomas, Yang, Yaping
Published in Nature genetics (01.11.2013)
Published in Nature genetics (01.11.2013)
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Journal Article
Preimplantation genetic screens
Beaudet, Arthur L
Published in Science (American Association for the Advancement of Science) (25.09.2015)
Published in Science (American Association for the Advancement of Science) (25.09.2015)
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