खोज परिणाम - Murdock, David R.

Effects of Chlorpromazine on Mechanical Properties of the Outer Hair Cell Plasma Membrane द्वारा Murdock, David R., Ermilov, Sergey A., Spector, Alexander A., Popel, Aleksander S., Brownell, William E., Anvari, Bahman

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Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening द्वारा Murdock, David R., Donovan, Frank X., Chandrasekharappa, Settara C., Banks, Nicole, Bondy, Carolyn, Muenke, Maximilian, Kruszka, Paul

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Whole-Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent Polymicrogyria द्वारा Murdock, David R., Clark, Gary D., Bainbridge, Matthew N., Newsham, Irene, Wu, Yuan-Qing, Muzny, Donna M., Cheung, Sau Wai, Gibbs, Richard A., Ramocki, Melissa B.

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Xia–Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition द्वारा Murdock, David R., Jiang, Yunyun, Wangler, Michael, Khayat, Michael M., Sabo, Aniko, Juusola, Jane, McWalter, Kirsty, Schatz, Krista Sondergaard, Gunay-Aygun, Meral, Gibbs, Richard A.

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Whole-Exome Sequencing as a diagnostic tool in a child with Atypical Episodic Muscle Weakness द्वारा Hanchard, Neil A., Murdock, David R., Magoulas, Pilar L., Bainbridge, Matthew, Muzny, Donna, Wu, YuanQing, Wang, Min, Lupski, James R., Gibbs, Richard A., Brown, Chester W.

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SIX3 Deletions and Incomplete Penetrance in Families Affected by Holoprosencephaly द्वारा Stokes, Bethany, Berger, Seth I., Hall, Beth A., Weiss, Karin, Hadley, Donald W., Murdock, David R., Ramanathan, Subhadra, Clark, Robin D., Roessler, Erich, Kruszka, Paul, Muenke, Maximilian

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A Novel, De Novo Intronic Variant in POGZ Causes White-Sutton Syndrome द्वारा Merriweather, Ashanta, Murdock, David R., Rosenfeld, Jill A., Dai, Hongzheng, Ketkar, Shamika, Emrick, Lisa, Nicholas, Sarah, Lewis, Richard A., Bacino, Carlos A., Scott, Daryl A., Lee, Brendan, Sutton, V. Reid, Potocki, Lorraine, Burrage, Lindsay C.

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Exome Sequencing in Children with Clinically Suspected Maturity-Onset Diabetes of the Young (MODY) द्वारा Tosur, Mustafa, Soler-Alfonso, Claudia, Chan, Katie M, Khayat, Michael M, Jhangiani, Shalini N, Meng, Qingchang, Refaey, Ahmad, Muzny, Donna, Gibbs, Richard A, Murdock, David R, Posey, Jennifer E, Balasubramanyam, Ashok, Redondo, Maria J, Sabo, Aniko

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Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome द्वारा Carvalho, Claudia M B, Zuccherato, Luciana W, Williams, Christopher L, Neill, Nicholas J, Murdock, David R, Bainbridge, Matthew, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Ip, Wan, Guillerman, Robert Paul, Lupski, James R, Bertuch, Alison A

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The phenotypic spectrum of Xia-Gibbs syndrome द्वारा Jiang, Yunyun, Wangler, Michael F., McGuire, Amy L., Lupski, James R., Posey, Jennifer E., Khayat, Michael M., Murdock, David R., Sanchez-Pulido, Luis, Ponting, Chris P., Xia, Fan, Hunter, Jill V., Meng, Qingchang, Murugan, Mullai, Gibbs, Richard A.

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Whole-Genome Sequencing for Optimized Patient Management द्वारा Bainbridge, Matthew N., Wiszniewski, Wojciech, Murdock, David R., Friedman, Jennifer, Gonzaga-Jauregui, Claudia, Newsham, Irene, Reid, Jeffrey G., Fink, John K., Morgan, Margaret B., Gingras, Marie-Claude, Muzny, Donna M., Hoang, Linh D., Yousaf, Shahed, Lupski, James R., Gibbs, Richard A.

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Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia–Gibbs syndrome द्वारा Khayat, Michael M., Li, He, Chander, Varuna, Hu, Jianhong, Hansen, Adam W., Li, Shoudong, Traynelis, Josh, Shen, Hua, Weissenberger, George, Stossi, Fabio, Johnson, Hannah L., Lupski, James R., Posey, Jennifer E., Sabo, Aniko, Meng, Qingchang, Murdock, David R., Wangler, Michael, Gibbs, Richard A.

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De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy द्वारा Chung, Hyung-lok, Mao, Xiao, Wang, Hua, Park, Ye-Jin, Marcogliese, Paul C., Rosenfeld, Jill A., Burrage, Lindsay C., Liu, Pengfei, Murdock, David R., Yamamoto, Shinya, Wangler, Michael F., Chao, Hsiao-Tuan, Long, Hongyu, Feng, Li, Bacino, Carlos A., Bellen, Hugo J., Xiao, Bo

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Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing द्वारा Murdock, David R., Dai, Hongzheng, Burrage, Lindsay C., Rosenfeld, Jill A., Ketkar, Shamika, Müller, Michaela F., Yépez, Vicente A., Gagneur, Julien, Liu, Pengfei, Chen, Shan, Jain, Mahim, Zapata, Gladys, Bacino, Carlos A., Chao, Hsiao-Tuan, Moretti, Paolo, Craigen, William J., Hanchard, Neil A., Lee, Brendan

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Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases द्वारा Kobren, Shilpa Nadimpalli, Baldridge, Dustin, Velinder, Matt, Krier, Joel B., LeBlanc, Kimberly, Esteves, Cecilia, Pusey, Barbara N., Züchner, Stephan, Blue, Elizabeth, Lee, Hane, Huang, Alden, Bastarache, Lisa, Bican, Anna, Cogan, Joy, Marwaha, Shruti, Alkelai, Anna, Murdock, David R., Liu, Pengfei, Wegner, Daniel J., Paul, Alexander J., Sunyaev, Shamil R., Kohane, Isaac S.

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Best practices for the interpretation and reporting of clinical whole genome sequencing द्वारा Austin-Tse, Christina A., Jobanputra, Vaidehi, Perry, Denise L., Bick, David, Taft, Ryan J., Venner, Eric, Gibbs, Richard A., Young, Ted, Barnett, Sarah, Belmont, John W., Boczek, Nicole, Chowdhury, Shimul, Ellsworth, Katarzyna A., Guha, Saurav, Kulkarni, Shashikant, Marcou, Cherisse, Meng, Linyan, Murdock, David R., Rehman, Atteeq U., Spiteri, Elizabeth, Thomas-Wilson, Amanda, Kearney, Hutton M., Rehm, Heidi L.

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

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Cohesin complex-associated holoprosencephaly द्वारा Kruszka, Paul, Berger, Seth I, Casa, Valentina, Dekker, Mike R, Gaesser, Jenna, Weiss, Karin, Martinez, Ariel F, Murdock, David R, Louie, Raymond J, Prijoles, Eloise J, Lichty, Angie W, Brouwer, Oebele F, Zonneveld-Huijssoon, Evelien, Stephan, Mark J, Hogue, Jacob, Hu, Ping, Tanima-Nagai, Momoko, Everson, Joshua L, Prasad, Chitra, Cereda, Anna, Iascone, Maria, Schreiber, Allison, Zurcher, Vickie, Corsten-Janssen, Nicole, Escobar, Luis, Clegg, Nancy J, Delgado, Mauricio R, Hajirnis, Omkar, Balasubramanian, Meena, Kayserili, Hülya, Deardorff, Matthew, Poot, Raymond A, Wendt, Kerstin S, Lipinski, Robert J, Muenke, Maximilian

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Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications द्वारा Murdock, David R., Venner, Eric, Muzny, Donna M., Metcalf, Ginger A., Murugan, Mullai, Hadley, Trevor D., Chander, Varuna, De Vries, Paul, Jia, Xiaoming, Hussain, Aliza, Agha, Ali M., Sabo, Aniko, Li, Shoudong, Meng, Qingchang, Hu, Jianhong, Tian, Xia, Cohen, Michelle, Yi, Victoria, Kovar, Christie L., Gingras, Marie-Claude, Korchina, Viktoriya, Howard, Chad, Riconda, Daniel L., Pereira, Stacey, Smith, Hadley, Huda, Zohra A., Buentello, Alexandria, Marino, Patricia R., Leiber, Lee, Balasubramanyam, Ashok, Amos, Christopher I., Civitello, Andrew, Chelu, Mihail G., Maag, Ronald, McGuire, Amy L., Boerwinkle, Eric, Wehrens, Xander H.T., Ballantyne, Christie M., Gibbs, Richard A.

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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms द्वारा Barish, Scott, Barakat, Tahsin Stefan, Michel, Brittany C., Mashtalir, Nazar, Phillips, Jennifer B., Valencia, Alfredo M., Ugur, Berrak, Wegner, Jeremy, Scott, Tiana M., Bostwick, Brett, Murdock, David R., Dai, Hongzheng, Perenthaler, Elena, Nikoncuk, Anita, van Slegtenhorst, Marjon, Brooks, Alice S., Keren, Boris, Nava, Caroline, Mignot, Cyril, Douglas, Jessica, Rodan, Lance, Nowak, Catherine, Ellard, Sian, Stals, Karen, Lynch, Sally Ann, Faoucher, Marie, Lesca, Gaetan, Edery, Patrick, Engleman, Kendra L., Zhou, Dihong, Thiffault, Isabelle, Herriges, John, Gass, Jennifer, Louie, Raymond J., Stolerman, Elliot, Washington, Camerun, Vetrini, Francesco, Otsubo, Aiko, Pratt, Victoria M., Conboy, Erin, Treat, Kayla, Shannon, Nora, Camacho, Jose, Wakeling, Emma, Yuan, Bo, Chen, Chun-An, Rosenfeld, Jill A., Westerfield, Monte, Wangler, Michael, Yamamoto, Shinya, Kadoch, Cigall, Scott, Daryl A., Bellen, Hugo J.

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