Towards a therapy for Angelman syndrome by targeting a long non-coding RNA
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Published in Nature (London) (19.02.2015)
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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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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
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Published in The New England journal of medicine (05.01.2017)
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Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
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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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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
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Published in Nature genetics (01.11.2013)
Published in Nature genetics (01.11.2013)
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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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Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3
Wang, Xiaoming, McCoy, Portia A., Rodriguiz, Ramona M., Pan, Yanzhen, Je, H. Shawn, Roberts, Adam C., Kim, Caroline J., Berrios, Janet, Colvin, Jennifer S., Bousquet-Moore, Danielle, Lorenzo, Isabel, Wu, Gangyi, Weinberg, Richard J., Ehlers, Michael D., Philpot, Benjamin D., Beaudet, Arthur L., Wetsel, William C., Jiang, Yong-hui
Published in Human molecular genetics (01.08.2011)
Published in Human molecular genetics (01.08.2011)
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Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
Lalani, Seema R., Zhang, Jing, Schaaf, Christian P., Brown, Chester W., Magoulas, Pilar, Tsai, Anne Chun-Hui, El-Gharbawy, Areeg, Wierenga, Klaas J., Bartholomew, Dennis, Fong, Chin-To, Barbaro-Dieber, Tina, Kukolich, Mary K., Burrage, Lindsay C., Austin, Elise, Keller, Kory, Pastore, Matthew, Fernandez, Fabio, Lotze, Timothy, Wilfong, Angus, Purcarin, Gabriela, Zhu, Wenmiao, Craigen, William J., McGuire, Marianne, Jain, Mahim, Cooney, Erin, Azamian, Mahshid, Bainbridge, Matthew N., Muzny, Donna M., Boerwinkle, Eric, Person, Richard E., Niu, Zhiyv, Eng, Christine M., Lupski, James R., Gibbs, Richard A., Beaudet, Arthur L., Yang, Yaping, Wang, Meng C., Xia, Fan
Published in American journal of human genetics (06.11.2014)
Published in American journal of human genetics (06.11.2014)
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Comparative analysis of single-stranded DNA donors to generate conditional null mouse alleles
Lanza, Denise G, Gaspero, Angelina, Lorenzo, Isabel, Liao, Lan, Zheng, Ping, Wang, Ying, Deng, Yu, Cheng, Chonghui, Zhang, Chuansheng, Seavitt, John R, DeMayo, Francesco J, Xu, Jianming, Dickinson, Mary E, Beaudet, Arthur L, Heaney, Jason D
Published in BMC biology (21.06.2018)
Published in BMC biology (21.06.2018)
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Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Halim, Danny, Brosens, Erwin, Muller, Françoise, Wangler, Michael F., Beaudet, Arthur L., Lupski, James R., Akdemir, Zeynep H. Coban, Doukas, Michael, Stoop, Hans J., de Graaf, Bianca M., Brouwer, Rutger W.W., van Ijcken, Wilfred F.J., Oury, Jean-François, Rosenblatt, Jonathan, Burns, Alan J., Tibboel, Dick, Hofstra, Robert M.W., Alves, Maria M.
Published in American journal of human genetics (06.07.2017)
Published in American journal of human genetics (06.07.2017)
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A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?
Chaste, Pauline, Klei, Lambertus, Sanders, Stephan J, Hus, Vanessa, Murtha, Michael T, Lowe, Jennifer K, Willsey, A. Jeremy, Moreno-De-Luca, Daniel, Yu, Timothy W, Fombonne, Eric, Geschwind, Daniel, Grice, Dorothy E, Ledbetter, David H, Mane, Shrikant M, Martin, Donna M, Morrow, Eric M, Walsh, Christopher A, Sutcliffe, James S, Lese Martin, Christa, Beaudet, Arthur L, Lord, Catherine, State, Matthew W, Cook, Edwin H, Devlin, Bernie
Published in Biological psychiatry (1969) (01.05.2015)
Published in Biological psychiatry (1969) (01.05.2015)
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The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing
Feng, Yanming, Ge, Xiaoyan, Meng, Linyan, Scull, Jennifer, Li, Jianli, Tian, Xia, Zhang, Tao, Jin, Weihong, Cheng, Hanyin, Wang, Xia, Tokita, Mari, Liu, Pengfei, Mei, Hui, Wang, Yue, Li, Fangyuan, Schmitt, Eric S., Zhang, Wei V., Muzny, Donna, Wen, Shu, Chen, Zhao, Yang, Yaping, Beaudet, Arthur L., Liu, Xiaoming, Eng, Christine M., Xia, Fan, Wong, Lee-Jun, Zhang, Jinglan
Published in Genetics in medicine (01.08.2017)
Published in Genetics in medicine (01.08.2017)
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Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3
Jiang, Yong-Hui, Pan, Yanzhen, Zhu, Li, Landa, Luis, Yoo, Jong, Spencer, Corinne, Lorenzo, Isabel, Brilliant, Murray, Noebels, Jeffrey, Beaudet, Arthur L
Published in PloS one (20.08.2010)
Published in PloS one (20.08.2010)
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Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women
Kølvraa, Steen, Singh, Ripudaman, Normand, Elizabeth A., Qdaisat, Sadeem, van den Veyver, Ignatia B., Jackson, Laird, Hatt, Lotte, Schelde, Palle, Uldbjerg, Niels, Vestergaard, Else Marie, Zhao, Li, Chen, Rui, Shaw, Chad A., Breman, Amy M., Beaudet, Arthur L.
Published in Prenatal diagnosis (01.12.2016)
Published in Prenatal diagnosis (01.12.2016)
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Three-dimensional microCT imaging of mouse development from early post-implantation to early postnatal stages
Hsu, Chih-Wei, Wong, Leeyean, Rasmussen, Tara L., Kalaga, Sowmya, McElwee, Melissa L., Keith, Lance C., Bohat, Ritu, Seavitt, John R., Beaudet, Arthur L., Dickinson, Mary E.
Published in Developmental biology (15.11.2016)
Published in Developmental biology (15.11.2016)
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Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing
Breman, Amy M., Chow, Jennifer C., U'Ren, Lance, Normand, Elizabeth A., Qdaisat, Sadeem, Zhao, Li, Henke, David M., Chen, Rui, Shaw, Chad A., Jackson, Laird, Yang, Yaping, Vossaert, Liesbeth, Needham, Rachel H. V., Chang, Elizabeth J., Campton, Daniel, Werbin, Jeffrey L., Seubert, Ron C., Van den Veyver, Ignatia B., Stilwell, Jackie L., Kaldjian, Eric P., Beaudet, Arthur L.
Published in Prenatal diagnosis (01.11.2016)
Published in Prenatal diagnosis (01.11.2016)
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