Resultados da busca - Jack Reilly

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  1. 1
    Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis

    Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Ana... por Laila C. Schenkel, Jennifer Kerkhof, Alan Stuart, Jack Reilly, Barry Eng, Crystal Woodside, Alexander Levstik, Christopher J. Howlett, Anthony Rupar, Joan H.M. Knoll, Peter Ainsworth, John S. Waye, Bekim Sadiković

    Publicado em 2016
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  2. 2
    Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels

    Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels por Jennifer Kerkhof, Laila C. Schenkel, Jack Reilly, Sheri McRobbie, Erfan Aref‐Eshghi, Alan Stuart, C. Anthony Rupar, Paul C. Adams, Robert A. Hegele, Hanxin Lin, David I. Rodenhiser, Joan H.M. Knoll, Peter Ainsworth, Bekim Sadiković

    Publicado em 2017
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  3. 3
    Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

    Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders por Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares‐Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin Hilton, Zandra A. Jenkins, Simranpreet Kaur, M. E. Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Pallarès, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocío Rius, Stephen P. Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Niels Vos, Kellie K. Walden, Dimitar N. Azmanov, Tuğçe B. Balcı, Siddharth Banka, Jozef Gécz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Mok Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym M. Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, John Christodoulou, David A. Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Geneviève, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl R. Greenberg, Charles E. Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Mariëlle Alders, Matthew L. Tedder, Bekim Sadiković

    Publicado em 2021
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  4. 4
    Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

    Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders por Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckevičienė, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares‐Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S. Fletcher, Florian Cherick, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin Hilton, Zandra A. Jenkins, Simranpreet Kaur, M. E. Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Pallarès, Maria Piccione, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Rocío Rius, Stephen P. Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Niels Vos, Kellie K. Walden, Dimitar N. Azmanov, Tuğçe B. Balcı, Siddharth Banka, Jozef Gécz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Mok Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym M. Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, Dominique Campion, John Christodoulou, David A. Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Geneviève, Delphine Héron, Thomas Husson, Kristin D. Kernohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl R. Greenberg, Charles E. Schwartz, Steven A. Skinner, Roger E. Stevenson, Marie Vincent, Antonio Vitobello, Marco Tartaglia, Mariëlle Alders, Matthew L. Tedder, Bekim Sadiković

    Publicado em 2022
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