Gene-targeting pharmaceuticals for single-gene disorders

le Beaudet, Arthur L., Meng, Linyan
Foilsithe in Hum Mol Genet (2016)

Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a

le Meng, Linyan, Person, Richard E., Beaudet, Arthur L.
Foilsithe 2012

Towards a therapy for Angelman syndrome by reduction of a long non-coding RNA

le Meng, Linyan, Ward, Amanda J., Chun, Seung, Bennett, C. Frank, Beaudet, Arthur L., Rigo, Frank
Foilsithe in Nature (2014)

Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model

le Meng, Linyan, Person, Richard Erwin, Huang, Wei, Zhu, Ping Jun, Costa-Mattioli, Mauro, Beaudet, Arthur L.
Foilsithe 2013

Validation of the diagnosis of autism in general practitioner records

le Fombonne, Eric, Heavey, Lisa, Smeeth, Liam, Rodrigues, Laura C, Cook, Claire, Smith, Peter G, Meng, Linyan, Hall, Andrew J
Foilsithe 2004

Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions

le Balzotti, Marie, Meng, Linyan, Muzzey, Dale, Johansen Taber, Katherine, Beauchamp, Kyle, Curation Team, Myriad Genetics, Curation Team, Baylor Genetics, Mar‐Heyming, Rebecca, Buckley, Bethany, Moyer, Krista
Foilsithe in Hum Mutat (2020)

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia

le Gu, Shen, Chen, Chun-An, Rosenfeld, Jill A., Cope, Heidi, Launay, Nathalie, Flanigan, Kevin M., Waldrop, Megan A., Schrader, Rachel, Juusola, Jane, Goker-Alpan, Ozlem, Milunsky, Aubrey, Schlüter, Agatha, Troncoso, Mónica, Pujol, Aurora, Tan, Queenie K.-G., Schaaf, Christian P., Meng, Linyan
Foilsithe in Hum Mutat (2019)

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

le Cao, Ye, Tokita, Mari J., Chen, Edward S., Ghosh, Rajarshi, Chen, Tiansheng, Feng, Yanming, Gorman, Elizabeth, Gibellini, Federica, Ward, Patricia A., Braxton, Alicia, Wang, Xia, Meng, Linyan, Xiao, Rui, Bi, Weimin, Xia, Fan, Eng, Christine M., Yang, Yaping, Gambin, Tomasz, Shaw, Chad, Liu, Pengfei, Stankiewicz, Pawel
Foilsithe in Genome Med (2019)

Intranasal Glucagon for Treatment of Insulin-Induced Hypoglycemia in Adults With Type 1 Diabetes: A Randomized Crossover Noninferiority Study

le Rickels, Michael R., Ruedy, Katrina J., Foster, Nicole C., Piché, Claude A., Dulude, Hélène, Sherr, Jennifer L., Tamborlane, William V., Bethin, Kathleen E., DiMeglio, Linda A., Wadwa, R. Paul, Ahmann, Andrew J., Haller, Michael J., Nathan, Brandon M., Marcovina, Santica M., Rampakakis, Emmanouil, Meng, Linyan, Beck, Roy W.
Foilsithe in Diabetes Care (2016)

Glucagon Nasal Powder: A Promising Alternative to Intramuscular Glucagon in Youth With Type 1 Diabetes

le Sherr, Jennifer L., Ruedy, Katrina J., Foster, Nicole C., Piché, Claude A., Dulude, Hélène, Rickels, Michael R., Tamborlane, William V., Bethin, Kathleen E., DiMeglio, Linda A., Fox, Larry A., Wadwa, R. Paul, Schatz, Desmond A., Nathan, Brandon M., Marcovina, Santica M., Rampakakis, Emmanouil, Meng, Linyan, Beck, Roy W.
Foilsithe in Diabetes Care (2016)

Response to Comment on Rickels et al. Intranasal Glucagon for Treatment of Insulin-Induced Hypoglycemia in Adults With Type 1 Diabetes: A Randomized Crossover Noninferiority Study....

le Rickels, Michael R., Ruedy, Katrina J., Foster, Nicole C., Piché, Claude A., Dulude, Hélène, Sherr, Jennifer L., Tamborlane, William V., Bethin, Kathleen E., DiMeglio, Linda A., Wadwa, R. Paul, Ahmann, Andrew J., Haller, Michael J., Nathan, Brandon M., Marcovina, Santica M., Rampakakis, Emmanouil, Meng, Linyan, Beck, Roy W.
Foilsithe in Diabetes Care (2016)

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

le Normand, Elizabeth A., Braxton, Alicia, Nassef, Salma, Ward, Patricia A., Vetrini, Francesco, He, Weimin, Patel, Vipulkumar, Qu, Chunjing, Westerfield, Lauren E., Stover, Samantha, Dharmadhikari, Avinash V., Muzny, Donna M., Gibbs, Richard A., Dai, Hongzheng, Meng, Linyan, Wang, Xia, Xiao, Rui, Liu, Pengfei, Bi, Weimin, Xia, Fan, Walkiewicz, Magdalena, Van den Veyver, Ignatia B., Eng, Christine M., Yang, Yaping
Foilsithe in Genome Med (2018)

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

le Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F, Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S, Toribio, Janet, Mena, Rafael, Prada, Carlos E, Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R Frank, Baralle, Diana, Mancini, Grazia M S, Conway, Simon J, Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J
Foilsithe in Hum Mol Genet (2019)

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

le Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F, Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S, Toribio, Janet, Mena, Rafael, Prada, Carlos E, Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R Frank, Baralle, Diana, Mancini, Grazia M S, Conway, Simon J, Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J
Foilsithe in Hum Mol Genet (2020)

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel

le Chiang, Theodore, Liu, Xiuping, Wu, Tsung-Jung, Hu, Jianhong, Sedlazeck, Fritz J., White, Simon, Schaid, Daniel, Andrade, Mariza de, Jarvik, Gail P., Crosslin, David, Stanaway, Ian, Carrell, David S., Connolly, John J., Hakonarson, Hakon, Groopman, Emily E., Gharavi, Ali G., Fedotov, Alexander, Bi, Weimin, Leduc, Magalie S., Murdock, David R., Jiang, Yunyun, Meng, Linyan, Eng, Christine M., Wen, Shu, Yang, Yaping, Muzny, Donna M., Boerwinkle, Eric, Salerno, William, Venner, Eric, Gibbs, Richard A.
Foilsithe in Genet Med (2019)

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

le Dharmadhikari, Avinash V., Ghosh, Rajarshi, Yuan, Bo, Liu, Pengfei, Dai, Hongzheng, Al Masri, Sami, Scull, Jennifer, Posey, Jennifer E., Jiang, Allen H., He, Weimin, Vetrini, Francesco, Braxton, Alicia A., Ward, Patricia, Chiang, Theodore, Qu, Chunjing, Gu, Shen, Shaw, Chad A., Smith, Janice L., Lalani, Seema, Stankiewicz, Pawel, Cheung, Sau-Wai, Bacino, Carlos A., Patel, Ankita, Breman, Amy M., Wang, Xia, Meng, Linyan, Xiao, Rui, Xia, Fan, Muzny, Donna, Gibbs, Richard A., Beaudet, Arthur L., Eng, Christine M., Lupski, James R., Yang, Yaping, Bi, Weimin
Foilsithe in Genome Med (2019)

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

le Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Bearden, David R., Stray-Pedersen, Asbjorg, Busk, Oyvind L., Stong, Nicholas, Liston, Eriskay, Cohn, Ronald D., Scaglia, Fernando, Rosenfeld, Jill A., Tarpinian, Jennifer, Skraban, Cara M., Deardorff, Matthew A., Friedman, Jeremy N., Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A., Kranz, Peter G., Jasien, Joan, McConkie-Rosell, Allyn, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Nelson, Stanley F., Lee, Hane, Dorrani, Naghmeh, Goldstein, David B., Xiao, Rui, Yang, Yaping, Posey, Jennifer E., Martinez-Agosto, Julian A., Lupski, James R., Wangler, Michael F., Shashi, Vandana
Foilsithe in Am J Hum Genet (2017)

Reanalysis of Clinical Exome Sequencing Data

le Liu, Pengfei, Meng, Linyan, Normand, Elizabeth A., Xia, Fan, Song, Xiaofei, Ghazi, Andrew, Rosenfeld, Jill, Magoulas, Pilar L., Braxton, Alicia, Ward, Patricia, Dai, Hongzheng, Yuan, Bo, Bi, Weimin, Xiao, Rui, Wang, Xia, Chiang, Theodore, Vetrini, Francesco, He, Weimin, Cheng, Hanyin, Dong, Jie, Gijavanekar, Charul, Benke, Paul J., Bernstein, Jonathan A., Eble, Tanya, Eroglu, Yasemen, Erwin, Deanna, Escobar, Luis, Gibson, James B., Gripp, Karen W., Kleppe, Soledad, Koenig, Mary Kay, Lewis, Andrea M., Natowicz, Marvin, Mancias, Pedro, Minor, LaKeesha, Scaglia, Fernando, Schaaf, Christian P., Streff, Haley, Vernon, Hilary, Uhles, Crescenda L, Zackai, Elaine H., Wu, Nan, Sutton, V. Reid, Beaudet, Arthur L., Muzny, Donna, Gibbs, Richard A., Posey, Jennifer E., Lalani, Seema, Shaw, Chad, Eng, Christine M., Lupski, James R., Yang, Yaping
Foilsithe in N Engl J Med (2019)

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

le Meng, Linyan, Pammi, Mohan, Saronwala, Anirudh, Magoulas, Pilar, Ghazi, Andrew Ray, Vetrini, Francesco, Zhang, Jing, He, Weimin, Dharmadhikari, Avinash V., Qu, Chunjing, Ward, Patricia, Braxton, Alicia, Narayanan, Swetha, Ge, Xiaoyan, Tokita, Mari J., Santiago-Sim, Teresa, Dai, Hongzheng, Chiang, Theodore, Smith, Hadley, Azamian, Mahshid S., Robak, Laurie, Bostwick, Bret L., Schaaf, Christian P., Potocki, Lorraine, Scaglia, Fernando, Bacino, Carlos A., Hanchard, Neil A., Wangler, Michael F., Scott, Daryl, Brown, Chester, Hu, Jianhong, Belmont, John W., Burrage, Lindsay C., Graham, Brett H., Sutton, Vernon Reid, Craigen, William J., Plon, Sharon E., Lupski, James R., Beaudet, Arthur L., Gibbs, Richard A., Muzny, Donna M., Miller, Marcus J., Wang, Xia, Leduc, Magalie S., Xiao, Rui, Liu, Pengfei, Shaw, Chad, Walkiewicz, Magdalena, Bi, Weimin, Xia, Fan, Lee, Brendan, Eng, Christine, Yang, Yaping, Lalani, Seema R.
Foilsithe in JAMA Pediatr (2017)

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

le Carapito, Raphael, Ivanova, Ekaterina L., Morlon, Aurore, Meng, Linyan, Molitor, Anne, Erdmann, Eva, Kieffer, Bruno, Pichot, Angélique, Naegely, Lydie, Kolmer, Aline, Paul, Nicodème, Hanauer, Antoine, Tran Mau-Them, Frédéric, Jean-Marçais, Nolwenn, Hiatt, Susan M., Cooper, Gregory M., Tvrdik, Tatiana, Muir, Alison M., Dimartino, Clémantine, Chopra, Maya, Amiel, Jeanne, Gordon, Christopher T., Dutreux, Fabien, Garde, Aurore, Thauvin-Robinet, Christel, Wang, Xia, Leduc, Magalie S., Phillips, Meredith, Crawford, Heather P., Kukolich, Mary K., Hunt, David, Harrison, Victoria, Kharbanda, Mira, Smigiel, Robert, Gold, Nina, Hung, Christina Y., Viskochil, David H., Dugan, Sarah L., Bayrak-Toydemir, Pinar, Joly-Helas, Géraldine, Guerrot, Anne-Marie, Schluth-Bolard, Caroline, Rio, Marlène, Wentzensen, Ingrid M., McWalter, Kirsty, Schnur, Rhonda E., Lewis, Andrea M., Lalani, Seema R., Mensah-Bonsu, Noël, Céraline, Jocelyn, Sun, Zijie, Ploski, Rafal, Bacino, Carlos A., Mefford, Heather C., Faivre, Laurence, Bodamer, Olaf, Chelly, Jamel, Isidor, Bertrand, Bahram, Seiamak
Foilsithe in Am J Hum Genet (2019)