Search Results - Santani, Avni

Mung Bean Nuclease Treatment Increases Capture Specificity of Microdroplet-PCR Based Targeted DNA Enrichment by Yu, Zhenming, Cao, Kajia, Tischler, Tanya, Stolle, Catherine A., Santani, Avni B.

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Clinical Exome Reanalysis: Current Practice and Beyond by Ji, Jianling, Leung, Marco L., Baker, Samuel, Deignan, Joshua L., Santani, Avni

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Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel by Leung, Marco L., Watson, Deborah J., Vaccaro, Courtney N., Mafra, Fernanda, Wenocur, Adam, Wang, Tiancheng, Hakonarson, Hakon, Santani, Avni

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A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia by Deutsch, Eric C., Santani, Avni B., Perlman, Susan L., Farmer, Jennifer M., Stolle, Catherine A., Marusich, Michael F., Lynch, David R.

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A detailed physical map of the horse Y chromosome by Raudsepp, Terje, Santani, Avni, Wallner, Barbara, Kata, Srinivas R., Ren, Chengwei, Zhang, Hong-Bin, Womack, James E., Skow, Loren C., Chowdhary, Bhanu P.

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Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing by Bhoj, Elizabeth J., Yu, Zhenming, Guan, Qiaoning, Ahrens-Nicklas, Rebecca, Cao, Kajia, Luo, Minjie, Tischler, Tanya, Deardorff, Matthew A., Zackai, Elaine, Santani, Avni B.

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Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies by Matalon, Dena R., Stevenson, David A., Bhoj, Elizabeth J., Santani, Avni B., Keena, Beth, Cohen, Meryl S., Lin, Angela E., Sheppard, Sarah E., Zackai, Elaine H.

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SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss by Buchert, Rebecca, Nesbitt, Addie I., Tawamie, Hasan, Krantz, Ian D., Medne, Livija, Helbig, Ingo, Matalon, Dena R., Reis, André, Santani, Avni, Sticht, Heinrich, Abou Jamra, Rami

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Identification of Intragenic Deletions and Duplication in the FLCN Gene in Birt-Hogg-Dubé Syndrome by Benhammou, Jihane N., Vocke, Cathy D., Santani, Avni, Schmidt, Laura S., Baba, Masaya, Seyama, Kuniaki, Wu, Xiaolin, Korolevich, Susana, Nathanson, Katherine L., Stolle, Catherine A., Linehan, W. Marston

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Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features by Tham, Emma, Lindstrand, Anna, Santani, Avni, Malmgren, Helena, Nesbitt, Addie, Dubbs, Holly A., Zackai, Elaine H., Parker, Michael J., Millan, Francisca, Rosenbaum, Kenneth, Wilson, Golder N., Nordgren, Ann

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Clinical Utility of Exome Sequencing in Infantile Heart Failure by Ritter, Alyssa, Bedoukian, Emma, Berger, Justin H., Copenheaver, Deborah, Gray, Christopher, Krantz, Ian, Izumi, Kosuke, Juusola, Jane, Leonard, Jacqueline, Lin, Kimberly, Medne, Livija, Santani, Avni, Skraban, Cara, Yang, Sandra, Ahrens-Nicklas, Rebecca C.

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Muenke syndrome: Medical and surgical comorbidities and long-term management by Murali, Chaya N., McDonald-McGinn, Donna M., Wenger, Tara Lynn, McDougall, Carey, Stroup, Bridget M., Sheppard, Sarah E., Taylor, Jesse, Bartlett, Scott P., Bhoj, Elizabeth J., Zackai, Elaine H., Santani, Avni

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Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1 by Ahrens-Nicklas, Rebecca C., Umanah, George K.E., Sondheimer, Neal, Deardorff, Matthew A., Wilkens, Alisha B., Conlin, Laura K., Santani, Avni B., Nesbitt, Addie, Juulsola, Jane, Ma, Erica, Dawson, Ted M., Dawson, Valina L., Marsh, Eric D.

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Tracheal cartilaginous sleeves in children with syndromic craniosynostosis by Wenger, Tara L., Dahl, John, Bhoj, Elizabeth J., Rosen, Anna, McDonald-McGinn, Donna, Zackai, Elaine, Jacobs, Ian, Heike, Carrie L., Hing, Anne, Santani, Avni, Inglis, Andrew F., Sie, Kathleen C.Y., Cunningham, Michael, Perkins, Jonathan

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Mitochondrial genome sequence analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy by Xie, Hongbo M, Perin, Juan C, Schurr, Theodore G, Dulik, Matthew C, Zhadanov, Sergey I, Baur, Joseph A, King, Michael P, Place, Emily, Clarke, Colleen, Grauer, Michael, Schug, Jonathan, Santani, Avni, Albano, Anthony, Kim, Cecilia, Procaccio, Vincent, Hakonarson, Hakon, Gai, Xiaowu, Falk, Marni J

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Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach by Wu, Chao, Devkota, Batsal, Evans, Perry, Zhao, Xiaonan, Baker, Samuel W., Niazi, Rojeen, Cao, Kajia, Gonzalez, Michael A., Jayaraman, Pushkala, Conlin, Laura K., Krock, Bryan L., Deardorff, Matthew A., Spinner, Nancy B., Krantz, Ian D., Santani, Avni B., Tayoun, Ahmad N. Abou, Sarmady, Mahdi

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Validation of association of the apolipoprotein E ε2 allele with neurodevelopmental dysfunction after cardiac surgery in neonates and infants by Gaynor, J. William, Kim, Daniel Seung, Arrington, Cammon B., Atz, Andrew M., Bellinger, David C., Burt, Amber A., Ghanayem, Nancy S., Jacobs, Jeffery P., Lee, Teresa M., Lewis, Alan B., Mahle, William T., Marino, Bradley S., Miller, Stephen G., Newburger, Jane W., Pizarro, Christian, Ravishankar, Chitra, Santani, Avni B., Wilder, Nicole S., Jarvik, Gail P., Mital, Seema, Russell, Mark W.

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Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death by Li, Mindy H., Abrudan, Jenica L., Dulik, Matthew C., Sasson, Ariella, Brunton, Joshua, Jayaraman, Vijayakumar, Dugan, Noreen, Haley, Danielle, Rajagopalan, Ramakrishnan, Biswas, Sawona, Sarmady, Mahdi, DeChene, Elizabeth T., Deardorff, Matthew A., Wilkens, Alisha, Noon, Sarah E., Scarano, Maria I., Santani, Avni B., White, Peter S., Pennington, Jeffrey, Conlin, Laura K., Spinner, Nancy B., Krantz, Ian D., Vetter, Victoria L.

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss by Sheppard, Sarah, Biswas, Sawona, Li, Mindy H., Jayaraman, Vijayakumar, Slack, Ian, Romasko, Edward J., Sasson, Ariella, Brunton, Joshua, Rajagopalan, Ramakrishnan, Sarmady, Mahdi, Abrudan, Jenica L., Jairam, Sowmya, DeChene, Elizabeth T., Ying, Xiahoan, Choi, Jiwon, Wilkens, Alisha, Raible, Sarah E., Scarano, Maria I., Santani, Avni, Pennington, Jeffrey W., Luo, Minjie, Conlin, Laura K., Devkota, Batsal, Dulik, Matthew C., Spinner, Nancy B., Krantz, Ian D.

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Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource by Strande, Natasha T., Riggs, Erin Rooney, Buchanan, Adam H., Ceyhan-Birsoy, Ozge, DiStefano, Marina, Dwight, Selina S., Goldstein, Jenny, Ghosh, Rajarshi, Seifert, Bryce A., Sneddon, Tam P., Wright, Matt W., Milko, Laura V., Cherry, J. Michael, Giovanni, Monica A., Murray, Michael F., O’Daniel, Julianne M., Ramos, Erin M., Santani, Avni B., Scott, Alan F., Plon, Sharon E., Rehm, Heidi L., Martin, Christa L., Berg, Jonathan S.

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