Mung Bean Nuclease Treatment Increases Capture Specificity of Microdroplet-PCR Based Targeted DNA Enrichment

von Yu, Zhenming, Cao, Kajia, Tischler, Tanya, Stolle, Catherine A., Santani, Avni B.
Veröffentlicht 2014

Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel

von Leung, Marco L., Watson, Deborah J., Vaccaro, Courtney N., Mafra, Fernanda, Wenocur, Adam, Wang, Tiancheng, Hakonarson, Hakon, Santani, Avni
Veröffentlicht in Sci Data (2020)

A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia

von Deutsch, Eric C., Santani, Avni B., Perlman, Susan L., Farmer, Jennifer M., Stolle, Catherine A., Marusich, Michael F., Lynch, David R.
Veröffentlicht 2010

A detailed physical map of the horse Y chromosome

von Raudsepp, Terje, Santani, Avni, Wallner, Barbara, Kata, Srinivas R., Ren, Chengwei, Zhang, Hong-Bin, Womack, James E., Skow, Loren C., Chowdhary, Bhanu P.
Veröffentlicht 2004

Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing

von Bhoj, Elizabeth J., Yu, Zhenming, Guan, Qiaoning, Ahrens-Nicklas, Rebecca, Cao, Kajia, Luo, Minjie, Tischler, Tanya, Deardorff, Matthew A., Zackai, Elaine, Santani, Avni B.
Veröffentlicht in Genet Med (2016)

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

von 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
Veröffentlicht in Orphanet J Rare Dis (2016)

Identification of Intragenic Deletions and Duplication in the FLCN Gene in Birt-Hogg-Dubé Syndrome

von 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
Veröffentlicht 2011

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

von 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
Veröffentlicht in Am J Hum Genet (2015)

Clinical Utility of Exome Sequencing in Infantile Heart Failure

von 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.
Veröffentlicht in Genet Med (2019)

Muenke syndrome: Medical and surgical comorbidities and long-term management

von 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
Veröffentlicht in Am J Med Genet A (2019)

Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1

von 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.
Veröffentlicht in Neurol Genet (2017)

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis

von 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
Veröffentlicht in Genet Med (2016)

Mitochondrial genome sequence analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy

von 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
Veröffentlicht 2011

Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach

von 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
Veröffentlicht in Eur J Hum Genet (2019)

Validation of association of the apolipoprotein E ε2 allele with neurodevelopmental dysfunction after cardiac surgery in neonates and infants

von 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.
Veröffentlicht in J Thorac Cardiovasc Surg (2014)

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death

von 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.
Veröffentlicht in Hum Genomics (2015)

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

von 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.
Veröffentlicht in Genet Med (2018)

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

von 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.
Veröffentlicht in Am J Hum Genet (2017)

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

von Straub, Jonas, Konrad, Enrico D.H., Grüner, Johanna, Toutain, Annick, Bok, Levinus A., Cho, Megan T., Crawford, Heather P., Dubbs, Holly, Douglas, Ganka, Jobling, Rebekah, Johnson, Diana, Krock, Bryan, Mikati, Mohamad A., Nesbitt, Addie, Nicolai, Joost, Phillips, Meredith, Poduri, Annapurna, Ortiz-Gonzalez, Xilma R., Powis, Zöe, Santani, Avni, Smith, Lacey, Stegmann, Alexander P.A., Stumpel, Constance, Vreeburg, Maaike, Fliedner, Anna, Gregor, Anne, Sticht, Heinrich, Zweier, Christiane
Veröffentlicht in Am J Hum Genet (2018)

Scaling Resolution of Variant Classification Differences in ClinVar between 41 Clinical Laboratories Through an Outlier Approach

von Harrison, Steven M., Dolinksy, Jill S., Chen, Wenjie, Collins, Christin D., Das, Soma, Deignan, Joshua L., Garber, Kathryn B., Garcia, John, Jarinova, Olga, Knight Johnson, Amy E., Koskenvuo, Juha W., Lee, Hane, Mao, Rong, Mar-Heyming, Rebecca, McFaddin, Andrew, Moyer, Krista, Nagan, Narasimhan, Rentas, Stefan, Santani, Avni B., Seppälä, Eija H., Shirts, Brian, Tidwell, Timothy, Topper, Scott, Vincent, Lisa M., Vinette, Kathy, Rehm, Heidi L.
Veröffentlicht in Hum Mutat (2018)