Search Results - Murdock, David
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Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening by Murdock, David R., Donovan, Frank X., Chandrasekharappa, Settara C., Banks, Nicole, Bondy, Carolyn, Muenke, Maximilian, Kruszka, Paul
Published 2017Text -
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A dose‐ranging study of a new, once‐daily, dual‐component drug product containing niacin extended‐release and lovastatin by Hunninghake, Donald B., McGovern, Mark E., Koren, Michael, Brazg, Ronald, Murdock, David, Weiss, Stuart, Pearson, Thomas
Published 2006Text -
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Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability by Sabo, Aniko, Murdock, David, Dugan, Shannon, Meng, Qingchang, Gingras, Marie‐Claude, Hu, Jianhong, Muzny, Donna, Gibbs, Richard
Published 2020Text -
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Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy by Fleming, Leah, Lemmon, Monica, Beck, Natalie, Johnson, Maria, Mu, Weiyi, Murdock, David, Bodurtha, Joann, Hoover-Fong, Julie, Cohn, Ronald, Bosemani, Thangamadhan, Barañano, Kristin, Hamosh, Ada
Published 2015Text -
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Whole-Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent Polymicrogyria by 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.
Published 2011Text -
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Xia–Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition by 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.
Published 2019Text -
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Whole-Exome Sequencing as a diagnostic tool in a child with Atypical Episodic Muscle Weakness by 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.
Published 2012Text -
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SIX3 Deletions and Incomplete Penetrance in Families Affected by Holoprosencephaly by 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
Published 2017Text -
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Harmonizing variant classification for return of results in the All of Us Research Program by Harrison, Steven M., Austin‐Tse, Christina A., Kim, Serra, Lebo, Matthew, Leon, Annette, Murdock, David, Radhakrishnan, Aparna, Shirts, Brian H., Steeves, Marcie, Venner, Eric, Gibbs, Richard A., Jarvik, Gail P., Rehm, Heidi L.
Published 2021Text -
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A Novel, De Novo Intronic Variant in POGZ Causes White-Sutton Syndrome by 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.
Published 2022Text -
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Exome Sequencing in Children with Clinically Suspected Maturity-Onset Diabetes of the Young (MODY) by 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
Published 2021Text -
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Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome by 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
Published 2014Text -
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The phenotypic spectrum of Xia-Gibbs syndrome by 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.
Published 2018Text