Kết quả tìm kiếm - Person, Richard

Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a Bằng Meng, Linyan, Person, Richard E., Beaudet, Arthur L.

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Epigenetic profiling at mouse imprinted gene clusters reveals novel epigenetic and genetic features at differentially methylated regions Bằng Dindot, Scott V., Person, Richard, Strivens, Mark, Garcia, Rejinaldo, Beaudet, Arthur L.

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Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the... Bằng Benson, Kathleen F., Person, Richard E., Li, Feng-Qian, Williams, Kayleen, Horwitz, Marshall

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Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model Bằng Meng, Linyan, Person, Richard Erwin, Huang, Wei, Zhu, Ping Jun, Costa-Mattioli, Mauro, Beaudet, Arthur L.

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Epigenetic Regulation of Protein-Coding and MicroRNA Genes by the Gfi1-Interacting Tumor Suppressor PRDM5 Bằng Duan, Zhijun, Person, Richard E., Lee, Hu-Hui, Huang, Shi, Donadieu, Jean, Badolato, Raffaele, Grimes, H. Leighton, Papayannopoulou, Thalia, Horwitz, Marshall S.

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Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster Bằng Sahoo, Trilochan, del Gaudio, Daniela, German, Jennifer R, Shinawi, Marwan, Peters, Sarika U, Person, Richard E, Garnica, Adolfo, Cheung, Sau Wai, Beaudet, Arthur L

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Contributions to Neutropenia from PFAAP5 (N4BP2L2), a Novel Protein Mediating Transcriptional Repressor Cooperation between Gfi1 and Neutrophil Elastase Bằng Salipante, Stephen J., Rojas, Meghan E. B., Korkmaz, Brice, Duan, Zhijun, Wechsler, Jeremy, Benson, Kathleen F., Person, Richard E., Grimes, H. Leighton, Horwitz, Marshall S.

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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2 Bằng Person, Richard E, Li, Feng-Qian, Duan, Zhijun, Benson, Kathleen F, Wechsler, Jeremy, Papadaki, Helen A, Eliopoulos, George, Kaufman, Christina, Bertolone, Salvatore J, Nakamoto, Betty, Papayannopoulou, Thalia, Grimes, H Leighton, Horwitz, Marshall

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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome Bằng Duker, Angela L, Ballif, Blake C, Bawle, Erawati V, Person, Richard E, Mahadevan, Sangeetha, Alliman, Sarah, Thompson, Regina, Traylor, Ryan, Bejjani, Bassem A, Shaffer, Lisa G, Rosenfeld, Jill A, Lamb, Allen N, Sahoo, Trilochan

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Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth vent... Bằng Lin, Frank Y., Bergstrom, Katie, Person, Richard, Bavle, Abhishek, Ballester, Leomar Y., Scollon, Sarah, Raesz-Martinez, Robin, Jea, Andrew, Birchansky, Sherri, Wheeler, David A., Berg, Stacey L., Chintagumpala, Murali M., Adesina, Adekunle M., Eng, Christine, Roy, Angshumoy, Plon, Sharon E., Parsons, D. Williams

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Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities Bằng Bend, Renee, Cohen, Lior, Carter, Melissa T., Lyons, Michael J., Niyazov, Dmitriy, Mikati, Mohamad A., Rojas, Samantha K., Person, Richard E., Si, Yue, Wentzensen, Ingrid M., Torti, Erin, Lee, Jennifer A., Boycott, Kym M., Basel-Salmon, Lina, Ferreira, Carlos R., Gonzaga-Jauregui, Claudia

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Structures and Molecular Mechanisms for Common 15q13.3 Microduplications Involving CHRNA7: Benign or Pathological? Bằng Szafranski, Przemyslaw, Schaaf, Christian P., Person, Richard E., Gibson, Ian B., Xia, Zhilian, Mahadevan, Sangeetha, Wiszniewska, Joanna, Bacino, Carlos A., Lalani, Seema, Potocki, Lorraine, Kang, Sung-Hae, Patel, Ankita, Cheung, Sau Wai, Probst, Frank J., Graham, Brett H., Shinawi, Marwan, Beaudet, Arthur L., Stankiewicz, Pawel

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Novel NUDT2 variant causes intellectual disability and polyneuropathy Bằng Diaz, Frank, Khosa, Shaweta, Niyazov, Dmitriy, Lee, Hane, Person, Richard, Morrow, Michelle M., Signer, Rebecca, Dorrani, Naghmeh, Zheng, Allison, Herzog, Matthew, Freundlich, Robert, Birath, J. Brandon, Cervantes‐Manzo, Yurivia, Martinez‐Agosto, Julian A., Palmer, Christina, Nelson, Stanley F., Fogel, Brent L., Mishra, Shri K.

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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy Bằng Lehman, Anna, Thouta, Samrat, Mancini, Grazia M.S., Naidu, Sakkubai, van Slegtenhorst, Marjon, McWalter, Kirsty, Person, Richard, Mwenifumbo, Jill, Salvarinova, Ramona, Guella, Ilaria, McKenzie, Marna B., Datta, Anita, Connolly, Mary B., Kalkhoran, Somayeh Mojard, Poburko, Damon, Friedman, Jan M., Farrer, Matthew J., Demos, Michelle, Desai, Sonal, Claydon, Thomas

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CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders Bằng El Ghaleb, Yousra, Schneeberger, Pauline E, Fernández-Quintero, Monica L, Geisler, Stefanie M, Pelizzari, Simone, Polstra, Abeltje M, van Hagen, Johanna M, Denecke, Jonas, Campiglio, Marta, Liedl, Klaus R, Stevens, Cathy A, Person, Richard E, Rentas, Stefan, Marsh, Eric D, Conlin, Laura K, Tuluc, Petronel, Kutsche, Kerstin, Flucher, Bernhard E

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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148 Bằng Dharmadhikari, Avinash V., Kang, Sung-Hae L., Szafranski, Przemyslaw, Person, Richard E., Sampath, Srirangan, Prakash, Siddharth K., Bader, Patricia I., Phillips, John A., Hannig, Vickie, Williams, Misti, Vinson, Sherry S., Wilfong, Angus A., Reimschisel, Tyler E., Craigen, William J., Patel, Ankita, Bi, Weimin, Lupski, James R., Belmont, John, Cheung, Sau Wai, Stankiewicz, Pawel

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Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome Bằng Bauer, Christiane K., Calligari, Paolo, Radio, Francesca Clementina, Caputo, Viviana, Dentici, Maria Lisa, Falah, Nadia, High, Frances, Pantaleoni, Francesca, Barresi, Sabina, Ciolfi, Andrea, Pizzi, Simone, Bruselles, Alessandro, Person, Richard, Richards, Sarah, Cho, Megan T., Claps Sepulveda, Daniela J., Pro, Stefano, Battini, Roberta, Zampino, Giuseppe, Digilio, Maria Cristina, Bocchinfuso, Gianfranco, Dallapiccola, Bruno, Stella, Lorenzo, Tartaglia, Marco

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Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder Bằng Ganapathi, Mythily, Padgett, Leah R., Yamada, Kentaro, Devinsky, Orrin, Willaert, Rebecca, Person, Richard, Au, Ping-Yee Billie, Tagoe, Julia, McDonald, Marie, Karlowicz, Danielle, Wolf, Barry, Lee, Joanna, Shen, Yufeng, Okur, Volkan, Deng, Liyong, LeDuc, Charles A., Wang, Jiayao, Hanner, Ashleigh, Mirmira, Raghavendra G., Park, Myung Hee, Mastracci, Teresa L., Chung, Wendy K.

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders Bằng 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.

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Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients Bằng Posey, Jennifer E., Rosenfeld, Jill A., James, Regis A., Bainbridge, Matthew, Niu, Zhiyv, Wang, Xia, Dhar, Shweta, Wiszniewski, Wojciech, Akdemir, Zeynep H.C., Gambin, Tomasz, Xia, Fan, Person, Richard E., Walkiewicz, Magdalena, Shaw, Chad A., Sutton, V. Reid, Beaudet, Arthur L., Muzny, Donna, Eng, Christine M., Yang, Yaping, Gibbs, Richard A., Lupski, James R., Boerwinkle, Eric, Plon, Sharon E.

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