檢索結果 - Roa, Benjamin B. 

Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms 由 Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y., Roa, Benjamin B.

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Interruptions in the Expanded ATTCT Repeat of Spinocerebellar Ataxia Type 10: Repeat Purity as a Disease Modifier? 由 Matsuura, Tohru, Fang, Ping, Pearson, Christopher E., Jayakar, Parul, Ashizawa, Tetsuo, Roa, Benjamin B., Nelson, David L.

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A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next‐generation sequencing hereditary pan‐cancer panel are acquired somatically 由 Coffee, Bradford, Cox, Hannah C., Bernhisel, Ryan, Manley, Susan, Bowles, Karla, Roa, Benjamin B., Mancini‐DiNardo, Debora

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Infrequency of Two Deletion Mutations at the DFNB1 Locus in Patients and Controls 由 Tang, Hsiao-Yuan, Basehore, Monica J., Blakey, Gregory L., Darilek, Sandra, Oghalai, John S., Roa, Benjamin B., Fang, Ping, Alford, Raye Lynn

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Analytical validation of a 12-gene molecular test for the prediction of distant recurrence in breast cancer 由 Warf, M Bryan, Rajamani, Saradha, Krappmann, Kristin, Doedt, Jennifer, Cassiano, Jared, Brown, Krystal, Reid, Julia E, Kronenwett, Ralf, Roa, Benjamin B

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DNA Sequence Analysis of GJB2, Encoding Connexin 26: Observations From a Population of Hearing Impaired Cases and Variable Carrier Rates, Complex Genotypes, and Ethnic Stratificati... 由 Tang, Hsiao-Yuan, Fang, Ping, Ward, Patricia A., Schmitt, Eric, Darilek, Sandra, Manolidis, Spiros, Oghalai, John S., Roa, Benjamin B., Alford, Raye Lynn

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Clinical significance of large rearrangements in BRCA1 and BRCA2 由 Judkins, Thaddeus, Rosenthal, Eric, Arnell, Christopher, Burbidge, Lynn Anne, Geary, Wade, Barrus, Toby, Schoenberger, Jeremy, Trost, Jeffrey, Wenstrup, Richard J, Roa, Benjamin B

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DNA sequence analysis and genotype–phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy 由 Tang, Hsiao-Yuan, Fang, Ping, Lin, Jerry W, Darilek, Sandra, Osborne, Brooke T, Haymond, Jo Ann, Manolidis, Spiros, Roa, Benjamin B, Oghalai, John S, Alford, Raye L

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Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing 由 Mancini-DiNardo, Debora, Judkins, Thaddeus, Kidd, John, Bernhisel, Ryan, Daniels, Courtney, Brown, Krystal, Meek, Kirsten, Craft, Jonathan, Holladay, Jayson, Morris, Brian, Roa, Benjamin B.

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Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients with Suspected Lynch Syndrome 由 Yurgelun, Matthew B., Allen, Brian, Kaldate, Rajesh R., Bowles, Karla R., Judkins, Thaddeus, Kaushik, Praveen, Roa, Benjamin B., Wenstrup, Richard J., Hartman, Anne-Renee, Syngal, Sapna

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Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes 由 Gallagher, Shannon, Hughes, Elisha, Wagner, Susanne, Tshiaba, Placede, Rosenthal, Eric, Roa, Benjamin B., Kurian, Allison W., Domchek, Susan M., Garber, Judy, Lancaster, Johnathan, Weitzel, Jeffrey N., Gutin, Alexander, Lanchbury, Jerry S., Robson, Mark

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Somatic and Germline Instability of the ATTCT Repeat in Spinocerebellar Ataxia Type 10 由 Matsuura, Tohru, Fang, Ping, Lin, Xi, Khajavi, Mehrdad, Tsuji, Kuniko, Rasmussen, Astrid, Grewal, Raji P., Achari, Madhureeta, Alonso, Maria E., Pulst, Stefan M., Zoghbi, Huda Y., Nelson, David L., Roa, Benjamin B., Ashizawa, Tetsuo

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Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS 由 Mendoza-Londono, Roberto , Lammer, Edward , Watson, Rosemarie , Harper, John , Hatamochi, Atsushi , Hatamochi-Hayashi, Saori , Napierala, Dobrawa , Hermanns, Pia , Collins, Sinead , Roa, Benjamin B. , Hedge, Madhuri R. , Wakui, Keiko , Nguyen, Diep , Stockton, David W. , Lee, Brendan 

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Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay 由 Biswas, Kajal, Das, Ranabir, Eggington, Julie M., Qiao, Huanyu, North, Susan L., Stauffer, Stacey, Burkett, Sandra S., Martin, Betty K., Southon, Eileen, Sizemore, Scott C., Pruss, Dmitry, Bowles, Karla R., Roa, Benjamin B., Hunter, Neil, Tessarollo, Lino, Wenstrup, Richard J., Byrd, R. Andrew, Sharan, Shyam K.

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An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic nevi 由 Clarke, Loren E., Flake, Darl D., Busam, Klaus, Cockerell, Clay, Helm, Klaus, McNiff, Jennifer, Reed, Jon, Tschen, Jaime, Kim, Jinah, Barnhill, Raymond, Elenitsas, Rosalie, Prieto, Victor G., Nelson, Jonathan, Kimbrell, Hillary, Kolquist, Kathryn A., Brown, Krystal L., Warf, M. Bryan, Roa, Benjamin B., Wenstrup, Richard J.

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Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study 由 Amos Wilson, Jean, Pratt, Victoria M., Phansalkar, Amit, Muralidharan, Kasinathan, Highsmith, W. Edward, Beck, Jeanne C., Bridgeman, Scott, Courtney, Ebony M., Epp, Lidia, Ferreira-Gonzalez, Andrea, Hjelm, Nick L., Holtegaard, Leonard M., Jama, Mohamed A., Jakupciak, John P., Johnson, Monique A., Labrousse, Paul, Lyon, Elaine, Prior, Thomas W., Richards, C. Sue, Richie, Kristy L., Roa, Benjamin B., Rohlfs, Elizabeth M., Sellers, Tina, Sherman, Stephanie L., Siegrist, Karen A., Silverman, Lawrence M., Wiszniewska, Joanna, Kalman, Lisa V.

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