检索结果 - Rebekah Jobling

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  1. 1
    Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia

    Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia 由 Christian R. Marshall, Stephen W. Scherer, Maimoona A. Zariwala, Lynette Lau, Tara Paton, Tracy Stockley, Rebekah Jobling, Peter N. Ray, Michael R. Knowles, David A. Hall, Sharon Dell, Raymond H. Kim

    出版 2015
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  2. 2
    Peroxisomal D-bifunctional protein deficiency

    Peroxisomal D-bifunctional protein deficiency 由 Matthew A. Lines, Rebekah Jobling, Lauren Brady, Christian R. Marshall, Stephen W. Scherer, Amadeo R. Rodriguez, Liesly Lee, Anthony E. Lang, Tiago Mestre, Ronald J. A. Wanders, Sacha Ferdinandusse, Mark A. Tarnopolsky

    出版 2014
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  3. 3
    Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting

    Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting 由 Iris Cohn, Roozbeh Manshaei, Eriskay Liston, John B. A. Okello, Reem Khan, Meredith Curtis, Abby J. Krupski, Rebekah Jobling, Kelsey Kalbfleisch, Tara Paton, Miriam S. Reuter, Robin Z. Hayeems, Ruud H J Verstegen, Aaron Goldman, Raymond H. Kim, Shinya Ito

    出版 2021
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  4. 4
    Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

    Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing 由 Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S. Reuter, Meaghan Snell, Sarah Bowdin, Ronald D. Cohn, Lucie Dupuis, Stacy Hewson, Saadet Mercimek‐Andrews, Cheryl Shuman, Neal Sondheimer, Rosanna Weksberg, Grace Yoon, M. Stephen Meyn, Dimitri J. Stavropoulos, Stephen W. Scherer, Roberto Mendoza‐Londono, Christian R. Marshall

    出版 2018
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  5. 5
    Reappraisal of Reported Genes for Sudden Arrhythmic Death

    Reappraisal of Reported Genes for Sudden Arrhythmic Death 由 S. Mohsen Hosseini, Raymond H. Kim, Sharmila Udupa, Gregory Costain, Rebekah Jobling, Eriskay Liston, Seema M. Jamal, Marta Szybowska, Chantal F. Morel, Sarah Bowdin, John Garcia, Melanie Care, Amy C. Sturm, Valeria Novelli, Michael Ackerman, James S. Ware, Ray E. Hershberger, Arthur A.M. Wilde, Michael H. Gollob

    出版 2018
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  6. 6
    Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

    Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot 由 Miriam S. Reuter, Rebekah Jobling, Rajiv Chaturvedi, Roozbeh Manshaei, Gregory Costain, Tracy Heung, Meredith Curtis, S. Mohsen Hosseini, Eriskay Liston, Chelsea Lowther, Erwin Oechslin, Heinrich Sticht, Bhooma Thiruvahindrapuram, Spencer van Mil, Rachel M. Wald, Susan Walker, Christian R. Marshall, Candice K. Silversides, Stephen W. Scherer, Raymond H. Kim, Anne S. Bassett

    出版 2018
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  7. 7
    <i>PMPCA</i>mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

    <i>PMPCA</i>mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia 由 Rebekah Jobling, Mirna Assoum, Oleksandr Gakh, Susan Blasér, Julian Raiman, Cyril Mignot, Emmanuel Roze, Alexandra Dürr, Alexis Brice, Nicolas Lévy, Chitra Prasad, Tara Paton, Andrew D. Paterson, Nicole M. Roslin, Christian R. Marshall, Jean-Pierre Desvignes, Nathalie Roëckel-Trevisiol, Stephen W. Scherer, Guy A. Rouleau, André Mégarbané, Grazia Isaya, Valérie Delague, Grace Yoon

    出版 2015
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  8. 8
    The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease

    The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease 由 Miriam S. Reuter, Rajiv Chaturvedi, Eriskay Liston, Roozbeh Manshaei, Ritu B. Aul, Sarah Bowdin, Iris Cohn, Meredith Curtis, Priya Dhir, Robin Z. Hayeems, S. Mohsen Hosseini, Reem Khan, Linh Ly, Christian R. Marshall, Luc Mertens, John B. A. Okello, Sérgio L. Pereira, Akshaya Raajkumar, Mike Seed, Bhooma Thiruvahindrapuram, Stephen W. Scherer, Raymond H. Kim, Rebekah Jobling

    出版 2020
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  9. 9
    Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

    Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila 由 Jonas Straub, Enrico D.H. Konrad, Johanna Grüner, Annick Toutain, Levinus A. Bok, Megan T. Cho, Heather P. Crawford, Holly Dubbs, Ganka Douglas, Rebekah Jobling, Diana Johnson, Bryan L. Krock, Mohamad A. Mikati, Addie I. Nesbitt, Joost Nicolai, Meredith Phillips, Annapurna Poduri, Xilma R. Ortiz‐González, Zöe Powis, Avni Santani, Lacey Smith, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Maaike Vreeburg, Anna Fliedner, Anne Gregor, Heinrich Sticht, Christiane Zweier

    出版 2017
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  10. 10
    Neurodegenerative <i>VPS41</i> variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

    Neurodegenerative <i>VPS41</i> variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation 由 Reini E.N. van der Welle, Rebekah Jobling, Christian Burns, Paolo Sanzà, Jan van der Beek, Alfonso Fasano, Lan Chen, Fried Zwartkruis, Susan Zwakenberg, Edward F. Griffin, Corlinda ten Brink, Tineke Veenendaal, Nalan Liv, Conny M.A. van Ravenswaaij‐Arts, Henny H. Lemmink, Rolph Pfundt, Susan Blasér, Carolina Sepulveda, Andrés M. Lozano, Grace Yoon, Teresa Santiago‐Sim, Cédric S. Asensio, Guy A. Caldwell, Kim A. Caldwell, David Chitayat, Judith Klumperman

    出版 2021
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  11. 11
    Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery

    Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery 由 Stephanie Luca, Marc Clausen, Angela Shaw, Whiwon Lee, Suvetha Krishnapillai, Ella Adi-Wauran, Hanna Faghfoury, Gregory Costain, Rebekah Jobling, Melyssa Aronson, Eriskay Liston, Josh Silver, Cheryl Shuman, Lauren Chad, Robin Z. Hayeems, Yvonne Bombard, François Bernier, Michael Brudno, June C. Carroll, Ronald D. Cohn, Irfan A. Dhalla, Jan M. Friedman, Stacy Hewson, Trevor Jamieson, Rita Kodida, Anne‐Marie Laberge, Jordan Lerner‐Ellis, Muhammad Mamdani, Christian R. Marshall, Matthew Osmond, Quỳnh Phạm, Emma Reble, Frank Rudzicz, Emily Seto, Serena Shastri-Estrada, Maureen Smith, Kevin E. Thorpe, Wendy J. Ungar

    出版 2023
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  12. 12
    Clinical reappraisal of <scp>SHORT</scp> syndrome with <i><scp>PIK3R1</scp></i> mutations: toward recommendation for molecular testing and management

    Clinical reappraisal of <scp>SHORT</scp> syndrome with <i><scp>PIK3R1</scp></i> mutations: toward recommendation for molecular testing and management 由 Mayra Mejía, David A. Dyment, Jørn V. Sagen, Judith St‐Onge, Ute Moog, Brian Hon‐Yin Chung, Sophy Mo, Sahar Mansour, A. Albanese, S. Garcia, David Martin, Ainhoa Abad López, Tor Claudi, Rainer König, S.M. White, S.L. Sawyer, J.A. Bernstein, Lauren Slattery, Rebekah Jobling, G. Yoon, Cynthia J. Curry, M. Le Merrer, Bernard Le Luyer, D. Héron, M. Mathieu‐Dramard, Pierre Bitoun, S. Odent, Jeanne Amiel, Paul Kuentz, J. Thevenon, Marie-Alice Laville, Yves Reznik, C. Fagour, M.L. Nunès, D. Delesalle, Sylvie Manouvrier, Olivier Lascols, Frédéric Huet, Christine Binquet, Laurence Faivre, J Rivière, Corinne Vigouroux, Pål R. Njølstad, A. Micheil Innes, Christel Thauvin-Robinet

    出版 2015
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  13. 13
    Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

    Mutations in TOP3A Cause a Bloom Syndrome-like Disorder 由 Carol-Anne Martin, Kata Sarlós, Clare V. Logan, Roshan Singh Thakur, David Parry, Anna H. Bizard, Andrea Leitch, Louise Cleal, Nadia Shaukat Ali, Mohammed Al‐Owain, William Allen, Janine Altmüller, Miriam Aza‐Carmona, Bushra A.Y. Barakat, Jimena Barraza‐García, Amber Begtrup, Massimo Bogliolo, Megan T. Cho, Jaime Cruz‐Rojo, Hassan Ali Mundi Dhahrabi, Nursel Elçioğlu, Gráinne S. Gorman, Rebekah Jobling, Ian Kesterton, Yoshihito Kishita, Masakazu Kohda, Polona Le Quesne Stabej, Asam Jassim Malallah, Peter Nürnberg, Akira Ohtake, Yasushi Okazaki, Roser Pujol, Marı́a José Ramı́rez, Anya Revah‐Politi, Masaru Shimura, Paul E. Stevens, Robert W. Taylor, Lesley Turner, Hywel Williams, Carolyn M. Wilson, Gökhan Yigit, Laura Zahavich, Fowzan S. Alkuraya, Jordi Surrallés, Alejandro Iglesias, Kei Murayama, Bernd Wollnik, Mehul Dattani, Karen E. Heath, Ian D. Hickson, Andrew P. Jackson

    出版 2018
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  14. 14
    Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

    Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test 由 Anath C. Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S. Reuter, S. Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam, Giovanna Pellecchia, Wilson W. L. Sung, Zhuozhi Wang, Peter Bikangaga, Cyrus Boelman, Melissa T. Carter, Dawn Cordeiro, Cheryl Cytrynbaum, Sharon Dell, Priya Dhir, James J. Dowling, Elise Héon, Stacy Hewson, Linda T. Hiraki, Michal Inbar‐Feigenberg, Regan Klatt, Jonathan B. Kronick, Ronald M. Laxer, Christoph Licht, H. Robson MacDonald, Saadet Mercimek‐Andrews, Roberto Mendoza‐Londono, Tino D. Piscione, Rayfel Schneider, Andreas Schulze, Earl D. Silverman, Komudi Siriwardena, O. Carter Snead, Neal Sondheimer, Joanne Sutherland, Ajoy Vincent, Jonathan D. Wasserman, Rosanna Weksberg, Cheryl Shuman, Chris Carew, Michael J. Szego, Robin Z. Hayeems, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Sarah Bowdin, M. Stephen Meyn, Ronald D. Cohn, Stephen W. Scherer, Christian R. Marshall

    出版 2017
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  15. 15
    Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

    Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine 由 Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling, Sarah Bowdin, Nasim Monfared, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, Ryan K. C. Yuen, Michael J. Szego, Robin Z. Hayeems, Randi Zlotnik Shaul, Michael Brudno, Marta Gîrdea, Brendan J. Frey, Babak Alipanahi, Sohnee Ahmed, Riyana Babul‐Hirji, Ramses Badilla Porras, Melissa T. Carter, Lauren Chad, Ayeshah Chaudhry, David Chitayat, Soghra Jougheh Doust, Cheryl Cytrynbaum, Lucie Dupuis, Resham Ejaz, Leona Fishman, Andrea Guerin, Bita Hashemi, Mayada Helal, Stacy Hewson, Michal Inbar‐Feigenberg, Pekka Kannus, Natalya Karp, Raymond H. Kim, Jonathan B. Kronick, Eriskay Liston, H. Robson MacDonald, Saadet Mercimek‐Mahmutoglu, Roberto Mendoza‐Londono, Enas Nasr, Graeme Nimmo, Nicole Parkinson, Nada Quercia, Julian Raiman, Maian Roifman, Andreas Schulze, Andrea Shugar, Cheryl Shuman, Pierre Sinajon, Komudi Siriwardena, Rosanna Weksberg, Grace Yoon, Chris Carew, Raith Erickson, Richard A. Leach, Robert J. Klein, Peter N. Ray, M. Stephen Meyn, Stephen W. Scherer, Ronald D. Cohn, Christian R. Marshall

    出版 2016
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  16. 16
    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome 由 Sarah E. Sheppard, Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline Harris, C. Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca L. Miller, Beverly Nelson, Małgorzata J.M. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James S. Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph H. Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah Jobling, Amy E. Knight Johnson, Jessica D. Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth M. McCormick, D. Ross McLeod, Frank Mentch, Kelly Q. Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina Powell‐Hamilton, Zöe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois J. Starr, Joan M. Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk

    出版 2021
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