Výsledky vyhledávání - Hsiao‐Mei Lu

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  1. 1
    Probability landscape of heritable and robust epigenetic state of lysogeny in phage lambda

    Probability landscape of heritable and robust epigenetic state of lysogeny in phage lambda Autor Youfang Cao, Hsiao-Mei Lu, Jie Liang

    Vydáno 2010
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  2. 2
    Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing

    Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing Autor Wenbo Mu, Hsiao‐Mei Lu, Jefferey Chen, Shuwei Li, Aaron Elliott

    Vydáno 2016
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  3. 3
    A human de novo mutation in<i>MYH10</i>phenocopies the loss of function mutation in mice

    A human de novo mutation in<i>MYH10</i>phenocopies the loss of function mutation in mice Autor Lea Tuzović, Lan Yu, Wenqi Zeng, Xiang Li, Hong Lu, Hsiao‐Mei Lu, Kelly Gonzalez, Wendy K. Chung

    Vydáno 2013
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  4. 4
    The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay

    The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay Autor Hansook Kim Chong, Tao Wang, Hsiao-Mei Lu, Sara Seidler, Hong Lu, Steven Keiles, Elizabeth Chao, Aaron J. Stuenkel, Xiang Li, Aaron Elliott

    Vydáno 2014
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  5. 5
    Exome sequencing covers &gt;98% of mutations identified on targeted next generation sequencing panels

    Exome sequencing covers &gt;98% of mutations identified on targeted next generation sequencing panels Autor Holly LaDuca, Kelly D. Farwell, Huy Gia Vuong, Hsiao‐Mei Lu, Wenbo Mu, Layla Shahmirzadi, Sha Tang, Jefferey Chen, Shruti Bhide, Elizabeth Chao

    Vydáno 2017
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  6. 6
    REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification

    REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification Autor Yuan Tian, Tina Pesaran, Adam Chamberlin, R. Bryn Fenwick, Shuwei Li, Chia‐Ling Gau, Elizabeth Chao, Hsiao‐Mei Lu, Mary Helen Black, Dajun Qian

    Vydáno 2019
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  7. 7
    Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing

    Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing Autor Hsiao‐Mei Lu, Shuwei Li, Mary Helen Black, Shela Lee, Robert Hoiness, Sitao Wu, Wenbo Mu, Robert Huether, Jefferey Chen, Srijani Sridhar, Yuan Tian, Rachel McFarland, Jill S. Dolinsky, Brigette Tippin Davis, Sharon Mexal, Charles Dunlop, Aaron Elliott

    Vydáno 2018
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  8. 8
    Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

    Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis Autor Russell J. Butterfield, Tamara J. Stevenson, Lingyan Xing, Tara Newcomb, B.E. Nelson, Wenqi Zeng, Xiang Li, Hsiao-Mei Lu, Hong Lu, Kelly Gonzalez, Jia-Perng Wei, Elizabeth Chao, Thomas W. Prior, Pamela J. Snyder, Joshua L. Bonkowsky, Kathryn J. Swoboda

    Vydáno 2014
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  9. 9
    Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

    Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases Autor Kelly D. Farwell Hagman, Deepali N. Shinde, Cameron Mroske, Erica D. Smith, Kelly Radtke, Layla Shahmirzadi, Dima El‐Khechen, Zöe Powis, Elizabeth Chao, Wendy Alcaraz, Katherine L. Helbig, Samin A. Sajan, Mari Rossi, Hsiao‐Mei Lu, Robert Huether, Shuwei Li, Sitao Wu, Mark E. Nuñes, Sha Tang

    Vydáno 2016
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  10. 10
    Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

    Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions Autor Kelly D. Farwell, Layla Shahmirzadi, Dima El‐Khechen, Zöe Powis, Elizabeth Chao, Brigette Tippin Davis, Ruth M. Baxter, Wenqi Zeng, Cameron Mroske, Melissa Parra, Stephanie Gandomi, Ira Lu, Xiang Li, Hong Lu, Hsiao‐Mei Lu, David Salvador, David Ruble, Monica Lao, Soren Fischbach, Jennifer X. Wen, Shela Lee, Aaron Elliott, Charles Dunlop, Sha Tang

    Vydáno 2014
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  11. 11
    A recurrent mutation in <i>KCNA2</i> as a novel cause of hereditary spastic paraplegia and ataxia

    A recurrent mutation in <i>KCNA2</i> as a novel cause of hereditary spastic paraplegia and ataxia Autor Katherine L. Helbig, Ulrike B. S. Hedrich, Deepali N. Shinde, Ilona Krey, Anne‐Christin Teichmann, Julia Hentschel, Julian Schubert, Adam Chamberlin, Robert Huether, Hsiao‐Mei Lu, Wendy Alcaraz, Sha Tang, Chelsy Jungbluth, Sarah Dugan, Leena Vainionpää, Kathrin N. Karle, Matthis Synofzik, Lüdger Schöls, Rebecca Schüle, Anna‐Elina Lehesjoki, Ingo Helbig, Holger Lerche, Johannes R. Lemke

    Vydáno 2016
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  12. 12
    Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

    Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy Autor Gabrielle Rudolf, Gaëtan Lesca, Mana M. Mehrjouy, Audrey Labalme, Manal Salmi, Iben Bache, Nadine Bruneau, Manuela Pendziwiat, Joël Fluss, Julitta de Bellescize, Julia Scholly, Rikke S. Møller, Dana Craiu, Niels Tommerup, Maria Paola Valenti‐Hirsch, Caroline Schluth–Bolard, Frédérique Sloan‐Béna, Katherine L. Helbig, Sarah Weckhuysen, Patrick Edery, Safia Coulbaut, Mohamed Abbas, Ingrid E. Scheffer, Sha Tang, Candace T. Myers, Hannah Stamberger, Gemma L. Carvill, Deepali N. Shinde, Heather C. Mefford, Elena Neagu, Robert Huether, Hsiao‐Mei Lu, Alice Dica, Julie S. Cohen, Catrinel Iliescu, Cristina Pomeran, James L. Rubenstein, Ingo Helbig, Damien Sanlaville, Édouard Hirsch, Pierre Szepetowski

    Vydáno 2016
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  13. 13
    Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

    Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes Autor Tyler Landrith, Bing Li, Ashley Cass, Blair R. Conner, Holly LaDuca, Danielle McKenna, Kara N. Maxwell, Susan M. Domchek, Nichole A. Morman, Christopher Heinlen, Deborah Wham, Cathryn Koptiuch, Jennie Vagher, Ragene Rivera, Ann Bunnell, Gayle Patel, Jennifer L. Geurts, Morgan Depas, Shraddha Gaonkar, Sara Pirzadeh‐Miller, Rebekah C. Krukenberg, Meredith Seidel, Robert Pilarski, Meagan Farmer, Khateriaa Pyrtel, Kara J. Milliron, John Lee, Elizabeth Hoodfar, Deepika Nathan, Amanda Ganzak, Sitao Wu, Huy Gia Vuong, Dong Xu, Aarani Arulmoli, Melissa Parra, Lily Hoang, Bhuvan Molparia, Michele Fennessy, Susanne Fox, Sinead Charpentier, Julia Burdette, Tina Pesaran, Jessica Profato, Brandon Smith, Ginger Haynes, Emily Dalton, Joy Rae-Radecki Crandall, Ruth Baxter, Hsiao‐Mei Lu, Brigette Tippin‐Davis, Aaron Elliott, Elizabeth Chao, Rachid Karam

    Vydáno 2020
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